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Number of items at this level: 327.

2019

Poliaková, Michaela; Felser, Andrea; Pierzchala, Katarzyna; Nuoffer, Jean-Marc; Aebersold, Daniel; Zimmer, Yitzhak; Zamboni, Nicola; Medova, Michaela (2019). Metabolomics reveals tepotinib-related mitochondrial dysfunction in MET activating mutations-driven models. FEBS journal, 286(14), pp. 2692-2710. Wiley-Blackwell 10.1111/febs.14852

Wyss, Rahel Kathrin; Méndez Carmona, Natalia; Sanz-Garcia, Maria Nieves; Arnold, Maria Regula; Segiser, Adrian; Fiedler, Georg Martin; Carrel, Thierry; Djafarzadeh, Siamak; Tevaearai, Hendrik; Henning Longnus, Sarah (2019). Mitochondrial integrity during early reperfusion in an isolated rat heart model of donation after circulatory death-consequences of ischemic duration. Journal of heart and lung transplantation, 38(6), pp. 647-657. Elsevier 10.1016/j.healun.2018.12.013

Franco-Pereira, Alba M; Nakas, Christos T.; Leichtle, Alexander Benedikt; Pardo, M Carmen (2019). Bootstrap-based testing approaches for the assessment of the diagnostic accuracy of biomarkers subject to a limit of detection. Statistical Methods in Medical Research, 28(5), pp. 1564-1578. SAGE Publications (UK and US) 10.1177/0962280218769334

Hertig, Damian; Felser, Andrea; Diserens, Gaëlle; Kurth, Sandra; Vermathen, Peter; Nuoffer, Jean-Marc (2019). Correction to: Selective galactose culture condition reveals distinct metabolic signatures in pyruvate dehydrogenase and complex I deficient human skin fibroblasts. Metabolomics, 15(4), p. 49. Springer 10.1007/s11306-019-1509-2

Hertig, Damian; Felser, Andrea; Diserens, Gaëlle; Kurth, Sandra; Vermathen, Peter; Nuoffer, Jean-Marc (2019). Selective galactose culture condition reveals distinct metabolic signatures in pyruvate dehydrogenase and complex I deficient human skin fibroblasts. Metabolomics, 15(3), p. 32. Springer 10.1007/s11306-019-1497-2

Jackson, Christopher; Huemer, Martina; Bolognini, Ramona; Martin, Franck; Szinnai, Gabor; Donner, Birgit C; Richter, Uwe; Battersby, Brendan J; Nuoffer, Jean-Marc; Suomalainen, Anu; Schaller, André (2019). A variant in MRPS14 (uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement. Human molecular genetics, 28(4), pp. 639-649. Oxford University Press 10.1093/hmg/ddy374

Wright, Galen E B; Amstutz, Ursula; Drögemöller, Britt I; Shih, Joanne; Rassekh, Shahrad R; Hayden, Michael R; Carleton, Bruce C; Ross, Colin J D (2019). Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes. Clinical pharmacology and therapeutics, 105(2), pp. 402-410. Wiley 10.1002/cpt.1179

Drögemöller, Britt I; Wright, Galen E B; Shih, Joanne; Monzon, Jose G; Gelmon, Karen A; Ross, Colin J D; Amstutz, Ursula; Carleton, Bruce C (2019). CYP2D6 as a treatment decision aid for ER-positive non-metastatic breast cancer patients: a systematic review with accompanying clinical practice guidelines. Breast cancer research and treatment, 173(3), pp. 521-532. Springer 10.1007/s10549-018-5027-0

2018

Bacher, Vera Ulrike; Shumilov, Evgenii; Flach, Johanna; Porret, Naomi; Joncourt, Raphael; Wiedemann, Gertrud; Fiedler, Martin; Novak, Urban; Amstutz, Ursula; Pabst, Thomas (2018). Challenges in the introduction of next-generation sequencing (NGS) for diagnostics of myeloid malignancies into clinical routine use. Blood cancer journal, 8(11), p. 113. Nature Publishing Group 10.1038/s41408-018-0148-6

Rohner, Lionel; Reinhart, Ramona; Hagmann, Björn; Odermatt, Andrea; Babirye, Annet; Kaufmann, Thomas; Fux, Michaela (2018). FcɛRI cross-linking and IL-3 protect human basophils from intrinsic apoptotic stress. The Journal of allergy and clinical immunology, 142(5), 1647-1650.e3. Elsevier 10.1016/j.jaci.2018.06.040

Amstutz, Ursula; Largiadèr, Carlo Rodolfo (2018). Genotype-guided fluoropyrimidine dosing: ready for implementation. The lancet oncology, 19(11), pp. 1421-1422. Elsevier 10.1016/S1470-2045(18)30744-7

von Wolff, M.; Nakas, Christos T.; Wolf, Marlene; Merz, Tobias; Hilty, M P; Veldhuis, J D; Huber, A R; Pichler Hefti, Jacqueline Renée (2018). Adrenal, thyroid and gonadal axes are affected at high altitude. Endocrine Connections, 7(10), pp. 1081-1089. BioScientifica 10.1530/EC-18-0242

Dzhonova, Dzhuliya Vihrenova; Olariu, Radu; Leckenby, Jonathan Ian; Banz Wälti, Yara; Prost, Jean-Christophe; Dhayani, Ashish; Vemula, Praveen K; Vögelin, Esther; Taddeo, Adriano; Rieben, Robert (2018). Local injections of tacrolimus-loaded hydrogel reduce systemic immunosuppression-related toxicity in vascularized composite allotransplantation. Transplantation, 102(10), pp. 1684-1694. Lippincott Williams & Wilkins 10.1097/TP.0000000000002283

Simonis, Alexander; Fux, Michaela; Nair, Gayathri; Mueller, Nicolas J; Haralambieva, Eugenia; Pabst Müller, Thomas Niklaus; Pachlopnik Schmid, Jana; Schmidt, Adrian; Schanz, Urs; Manz, Markus G; Müller, Antonia M S (2018). Allogeneic hematopoietic cell transplantation in patients with GATA2 deficiency-a case report and comprehensive review of the literature. Annals of hematology, 97(10), pp. 1961-1973. Springer-Verlag 10.1007/s00277-018-3388-4

Lobmaier, Janek; Fischbacher, Urs; Wirthmüller, Urs; Knoch, Daria (2018). The scent of attractiveness: levels of reproductive hormones explain individual differences in women's body odour. Proceedings of the Royal Society. Series B - biological sciences, 285(1886), pp. 1-7. Royal Society of London 10.1098/rspb.2018.1520

Huemer, Martina; Diodato, Daria; Martinelli, Diego; Olivieri, Giorgia; Blom, Henk; Gleich, Florian; Kölker, Stefan; Kožich, Viktor; Morris, Andrew A.; Seifert, Burkhardt; Froese, D. Sean; Baumgartner, Matthias R.; Dionisi-Vici, Carlo; Alcalde Martin, C.; Baethmann, M.; Ballhausen, D.; Blasco-Alonso, J.; Boy, N.; Bueno, M.; Burgos Peláez, R.; ... (2018). Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry (In Press). Journal of inherited metabolic disease Springer 10.1007/s10545-018-0238-4

Rajasekaran, Raviprasadh; Felser, Andrea; Nuoffer, Jean-Marc; Dufour, Jean-François; St-Pierre, Marie (2018). The histidine triad nucleotide-binding protein 2 (HINT-2) positively regulates hepatocellular energy metabolism. FASEB journal, 32(9), pp. 5143-5161. Federation of American Societies for Experimental Biology 10.1096/fj.201701429R

Müller, Martin; Schefold, Joerg C.; Leichtle, Alexander Benedikt; Srivastava, David Shiva; Lindner, G; Exadaktylos, Aristomenis K.; Pfortmüller, Carmen (2018). qSOFA score not predictive of in-hospital mortality in emergency patients with decompensated liver cirrhosis. (In Press). Medizinische Klinik, Intensivmedizin und Notfallmedizin Springer 10.1007/s00063-018-0477-z

Tran, Christel; Bonafé, Luisa; Nuoffer, Jean-Marc; Rieger, Julie; Berger, Mette M. (2018). Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management. Clinical nutrition, 37(4), pp. 1114-1120. Elsevier 10.1016/j.clnu.2017.07.013

Amini, Poorya; Stojkov, Darko; Felser, Andrea; Jackson, Christopher B; Courage, Carolina; Schaller, André; Gelman, Laurent; Soriano, Maria Eugenia; Nuoffer, Jean-Marc; Scorrano, Luca; Benarafa, Charaf; Yousefi, Shida; Simon, Hans-Uwe (2018). Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production. Nature communications, 9(1), p. 2958. Nature Publishing Group 10.1038/s41467-018-05387-y

van der Stouwe, Jan Gerrit; Carmeli, Cristian; Aeschbacher, Stefanie; Schoen, Tobias; Krisai, Philipp; Wenger, Giuditta; Ehret, Georg; Ponte, Belen; Pruijm, Menno; Ackermann, Daniel; Guessous, Idris; Paccaud, Fred; Pechère-Bertschi, Antoinette; Vogt, Bruno; Mohaupt, Markus G; Martin, Pierre-Yves; Burnier, Michel; Risch, Martin; Risch, Lorenz; Bochud, Murielle; ... (2018). Association of 24-Hour Blood Pressure With Urinary Sodium Excretion In Healthy Adults. American journal of hypertension, 31(7), pp. 784-791. Oxford University Press 10.1093/ajh/hpy031

Hamzic, Seid; Amstutz, Ursula; Largiadèr, Carlo Rodolfo (2018). Come a long way, still a ways to go: from predicting and preventing fluoropyrimidine toxicity to increased efficacy? Pharmacogenomics, 19(8), pp. 689-692. Future Medicine 10.2217/pgs-2018-0040

Shumilov, Evgenii; Flach, Johanna; Pabst Müller, Thomas Niklaus; Fiedler, Georg Martin; Angelillo, Anne; Trümper, Lorenz; Joncourt, Raphael; Kohlmann, Alexander; Bacher, Vera Ulrike (2018). Genetic alterations crossing the borders of distinct hematopoetic lineages and solid tumors: Diagnostic challenges in the era of high-throughput sequencing in hemato-oncology. Critical reviews in oncology, hematology, 126, pp. 64-79. Elsevier 10.1016/j.critrevonc.2018.03.020

Smy, Laura; Shaw, Kaitlyn; Amstutz, Ursula; Staub, Michelle; Chaudhry, Shahnaz; Smith, Anne; Carleton, Bruce; Koren, Gideon (2018). Assessment of hair cortisol as a potential biomarker for possible adrenal suppression due to inhaled corticosteroid use in children with asthma: A retrospective observational study. Clinical biochemistry, 56, pp. 26-32. Elsevier 10.1016/j.clinbiochem.2018.04.006

Amstutz, Ursula; Schärer, Dominic Manuel; Andrey, G; Wirthmüller, Urs; Largiadèr, Carlo Rodolfo (2018). An SSP-PCR method for the rapid detection of disease-associated alleles HLA-A*29 and HLA-B*51. HLA : immune response genetic, 92(2), pp. 90-93. Wiley 10.1111/tan.13296

de Graauw, E; Sitaru, C; Horn, Michael; Borradori, Luca; Yousefi, Shida; Simon, Dagmar; Simon, Hans-Uwe (2018). Monocytes enhance neutrophil-induced blister formation in an ex vivo model of bullous pemphigoid. Allergy, 73(5), pp. 1119-1130. Wiley-Blackwell 10.1111/all.13376

Schütz, Narayan; Leichtle, Alexander Benedikt; Riesen, Kaspar (2018). A comparative study of pattern recognition algorithms for predicting the inpatient mortality risk using routine laboratory measurements (In Press). Artificial intelligence review Springer 10.1007/s10462-018-9625-3

Aubry, Emilie; Aeberhard, Carla; Bally, Lia; Nuoffer, Jean-Marc; Risch, Lorenz; Mühlebach, Stefan; Burgunder, Jean-Marc; Stanga, Zeno (2018). Are patients affected by mitochondrial disorders at nutritional risk? Nutrition, 47, pp. 56-62. Elsevier 10.1016/j.nut.2017.09.011

Pop, Ana; Williams, Monique; Struys, Eduard A.; Monné, Magnus; Jansen, Erwin E. W.; De Grassi, Anna; Kanhai, Warsha A.; Scarcia, Pasquale; Ojeda, Matilde R. Fernandez; Porcelli, Vito; van Dooren, Silvy J. M.; Lennertz, Pascal; Nota, Benjamin; Abdenur, Jose E.; Coman, David; Das, Anibh Martin; El-Gharbawy, Areeg; Nuoffer, Jean-Marc; Polic, Branka; Santer, René; ... (2018). An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants. Journal of inherited metabolic disease, 41(2), pp. 169-180. Springer 10.1007/s10545-017-0106-7

Nakas, Christos T.; Reiser, Benjamin (2018). Editorial for the special issue of "Statistical Methods in Medical Research" on "Advanced ROC analysis". Statistical Methods in Medical Research, 27(3), pp. 649-650. SAGE Publications (UK and US) 10.1177/0962280217742536

Egli, Peter; Aeschbacher, Stefanie; Bossard, Matthias; Eggimann, Lucien; Blum, Steffen; Meyre, Pascal; Bargetzi, Laura; Estis, Joel; Todd, John; Risch, Martin; Risch, Lorenz; Conen, David (2018). Relationships of kidney injury molecule-1 with renal function and cardiovascular risk factors in the general population. Clinica chimica acta, 478, pp. 13-17. Elsevier 10.1016/j.cca.2017.12.019

Rindlisbacher, Barbara; Schmid, Cornelia; Geiser, Thomas; Bovet, Cédric; Funke-Chambour, Manuela (2018). Serum metabolic profiling identified a distinct metabolic signature in patients with idiopathic pulmonary fibrosis - a potential biomarker role for LysoPC. Respiratory research, 19(1), p. 7. BioMed Central 10.1186/s12931-018-0714-2

Blissenbach, Birgit; Nakas, Christos T.; Krönke, Martin; Geiser, Thomas; Merz, Tobias; Pichler Hefti, Jacqueline Renée (2018). Hypoxia-induced changes in plasma microRNAs correlate with pulmonary artery pressure at high altitude. American journal of physiology - lung cellular and molecular physiology, 314(1), L157-L164. American Physiological Society 10.1152/ajplung.00146.2017

Reinhart, Ramona; Rohner, Lionel; Wicki, Simone; Fux, Michaela; Kaufmann, Thomas (2018). BH3 mimetics efficiently induce apoptosis in mouse basophils and mast cells. Cell death and differentiation, 25(1), pp. 204-216. Nature Publishing Group 10.1038/cdd.2017.154

Amstutz, Ursula; Henricks, Linda M; Offer, Steven M; Barbarino, Julia; Schellens, Jan H M; Swen, Jesse J; Klein, Teri E; McLeod, Howard L; Caudle, Kelly E; Diasio, Robert B; Schwab, Matthias (2018). Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for Dihydropyrimidine Dehydrogenase Genotype and Fluoropyrimidine Dosing: 2017 Update. Clinical pharmacology and therapeutics, 103(2), pp. 210-216. Wiley 10.1002/cpt.911

Hilmenyuk, Tamara; Ruckstuhl, Carla A.; Hayoz, Michael; Berchtold, Christian; Nuoffer, Jean-Marc; Solanki, Shyam; Keun, Hector C.; Beavis, Paul A.; Riether, Carsten; Ochsenbein, Adrian F. (2018). T cell inhibitory mechanisms in a model of aggressive Non-Hodgkin's Lymphoma. Oncoimmunology, 7(1), e1365997. Landes Bioscience 10.1080/2162402x.2017.1365997

Lobmaier, Janek; Fischbacher, Urs; Probst, Fabian; Wirthmüller, Urs; Knoch, Daria (2018). Accumulating evidence suggests that men do not find body odours of human leucocyte antigen-dissimilar women more attractive. Proceedings of the Royal Society. Series B - biological sciences, 285(1878) Royal Society of London 10.1098/rspb.2018.0566

Dzhonova, Dzhuliya Vihrenova; Olariu, Radu; Leckenby, Jonathan Ian; Dhayani, Ashish; Vemula, Praveen Kumar; Prost, Jean-Christophe; Banz, Yara; Taddeo, Adriano; Rieben, Robert (2018). Local release of tacrolimus from hydrogel-based drug delivery system is controlled by inflammatory enzymes in vivo and can be monitored non-invasively using in vivo imaging. PLoS ONE, 13(8), e0203409. Public Library of Science 10.1371/journal.pone.0203409

Wagner, Franca; Grunder, Lorenz Nicolas; Hakim, Arsany; Kamber, Nicole; Horn, Michael; Müllner, Julia Nicole Maria; Hoepner, Robert; Wiest, Roland; Metz, Imke; Chan, Andrew; Salmen, Anke (2018). Rebound After Fingolimod and a Single Daclizumab Injection in a Patient Retrospectively Diagnosed With NMO Spectrum Disorder-MRI Apparent Diffusion Coefficient Maps in Differential Diagnosis of Demyelinating CNS Disorders. Frontiers in neurology, 9(782), p. 782. Frontiers Media S.A. 10.3389/fneur.2018.00782

Walder, Anna; Müller, Martin; Dahdal, Suzan; Sidler, Daniel; Devetzis, Vasilios; Leichtle, Alexander B.; Fiedler, Martin G.; Popp, Albrecht; Lippuner, Kurt; Vogt, Bruno; Uehlinger, Dominik; Huynh-Do, Uyen; Arampatzis, Spyridon (2018). The effect of a previous created distal arteriovenous-fistula on radial bone DXA measurements in prevalent renal transplant recipients. PLoS ONE, 13(7), e0200708. Public Library of Science 10.1371/journal.pone.0200708

Horn, Michael; Peter, Anna Maria; Righini Grunder, Franziska; Leichtle, Alexander Benedikt; Spalinger, Johannes; Schibli, Susanne; Sokollik, Christiane (2018). PR3-ANCA and panel diagnostics in pediatric inflammatory bowel disease to distinguish ulcerative colitis from Crohn's disease. PLoS ONE, 13(12), e0208974. Public Library of Science 10.1371/journal.pone.0208974

Hornemann, Thorsten; Alecu, Irina; Hagenbuch, Niels; Zhakupova, Assem; Cremonesi, Alessio; Gautschi, Matthias; Jung, Hans H.; Meienberg, Fabian; Bilz, Stefan; Christ, Emanuel; Baumgartner, Matthias R.; Hochuli, Michel (2018). Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I – A link to metabolic control. Molecular genetics and metabolism, 125(1-2), pp. 73-78. Elsevier 10.1016/j.ymgme.2018.07.003

Müller, Martin; Seidenberg, Ruth; Schuh, Sabine K.; Exadaktylos, Aristomenis; Schechter, Clyde B.; Leichtle, Alexander B.; Hautz, Wolf (2018). The development and validation of different decision-making tools to predict urine culture growth out of urine flow cytometry parameter. PLoS ONE, 13(2), e0193255. Public Library of Science 10.1371/journal.pone.0193255

Lesche, Dorothea; Sigurdardottir, Vilborg; Leichtle, Alexander Benedikt; Nakas, Christos T.; Christians, Uwe; Englberger, Lars; Fiedler, Georg Martin; Largiadèr, Carlo Rodolfo; Mohacsi, Paul; Sistonen, Johanna (2018). Targeted and global pharmacometabolomics in everolimus-based immunosuppression: association of co-medication and lysophosphatidylcholines with dose requirement. Metabolomics, 14(1), p. 3. Springer 10.1007/s11306-017-1294-8

Dahlweid, Fried-Michael; Kämpf, Matthias; Leichtle, Alexander (2018). Interoperability of laboratory data in Switzerland – a spotlight on Bern. LaboratoriumsMedizin / Journal of laboratory medicine, 42(6), pp. 251-258. Walter de Gruyter 10.1515/labmed-2018-0072

Findeisen, P.; Zahn, I.; Fiedler, Georg Martin; Leichtle, Alexander Benedikt; Wang, S.; Soria, G.; Johnson, P.; Henzell, J.; Hegel, J.K.; Bendavid, C.; Collet, N.; McGovern, M.; Klopprogge, K. (2018). Doubling immunochemistry laboratory testing efficiency with the cobas e 801 module while maintaining consistency in analytical performance. Clinical biochemistry, 58, pp. 86-93. Elsevier 10.1016/j.clinbiochem.2018.05.019

Liu, Xinyu; Hoene, Miriam; Yin, Peiyuan; Fritsche, Louise; Plomgaard, Peter; Hansen, Jakob S.; Nakas, Christos T.; Niess, Andreas M.; Hudemann, Jens; Haap, Michael; Mendy, Maimuna; Weigert, Cora; Wang, Xiaolin; Fritsche, Andreas; Peter, Andreas; Häring, Hans-Ulrich; Xu, Guowang; Lehmann, Rainer (2018). Quality Control of Serum and Plasma by Quantification of (4E,14Z)-Sphingadienine-C18-1-Phosphate Uncovers Common Preanalytical Errors During Handling of Whole Blood. Clinical chemistry, 64(5), pp. 810-819. American Association for Clinical Chemistry 10.1373/clinchem.2017.277905

Cadamuro, Janne; Mrazek, Cornelia; Leichtle, Alexander Benedikt; Kipman, Ulrike; Felder, Thomas K.; Wiedemann, Helmut; Oberkofler, Hannes; Fiedler, Georg Martin; Haschke-Becher, Elisabeth (2018). Influence of centrifugation conditions on the results of 77 routine clinical chemistry analytes using standard vacuum blood collection tubes and the new BD-Barricor tubes. Biochemia Medica, 28(1), 010704. Croatian Society of Medical Biochemistry and Laboratory Medicine 10.11613/BM.2018.010704

2017

Amstutz, Ursula; Mlakar, Vid; Curtis, Patricia Huezo-Diaz; Samer, Caroline; Baumann, Pierre; Bühlmann, Roland P; Meier-Abt, Peter; Meyer, Urs A; van Schaik, Ron H N; Ansari, Marc; Swiss Group of Pharmacogenomics and Personalised Therapy, SPT (2017). Creation of the Swiss group of Pharmacogenomics and personalised Therapy (SPT). Drug metabolism and personalized therapy, 32(4), pp. 173-174. De Gruyter 10.1515/dmpt-2017-0033

Mueller, Sandro Manuel; Gehrig, Saskia Maria; Petersen, Jens A; Frese, Sebastian; Mihaylova, Violeta; Ligon-Auer, Maria; Khmara, Natalia; Nuoffer, Jean-Marc; Schaller, André; Lundby, Carsten; Toigo, Marco; Jung, Hans H (2017). Effects of endurance training on skeletal muscle mitochondrial function in Huntington disease patients. Orphanet journal of rare diseases, 12(1), p. 184. BioMed Central 10.1186/s13023-017-0740-z

Amstutz, Ursula; Grob, Tobias; Largiadèr, Carlo Rodolfo; Vassella, Erik (2017). Liquid Biopsy: Tumorgenetik in Körperflüssigkeiten. Pipette - Swiss laboratory medicine(6), pp. 11-12. EMH Schweizerischer Ärzteverlag AG

Risch, Martin; Purde, Mette-Triin; Baumann, Marc Ulrich; Mohaupt, Markus; Mosimann, Beatrice; Renz, Harald; Raio, Luigi; Surbek, Daniel; Risch, Lorenz (2017). High first-trimester maternal blood cystatin C levels despite normal serum creatinine predict pre-eclampsia in singleton pregnancies. Scandinavian journal of clinical and laboratory investigation, 77(8), pp. 634-643. Taylor & Francis 10.1080/00365513.2017.1393692

Rindlisbacher, Barbara; Strebel, Carina; Guler, Sabina; Kollár, Attila; Geiser, Thomas; Fiedler, Georg Martin; Leichtle, Alexander Benedikt; Bovet, Cédric; Funke-Chambour, Manuela (2017). Exhaled breath condensate as a potential biomarker tool for idiopathic pulmonary fibrosis - a pilot study. Journal of breath research, 12(1), 016003. IOP Science 10.1088/1752-7163/aa840a

Drögemöller, Britt I; Monzon, Jose G; Bhavsar, Amit P; Borrie, Adrienne E; Brooks, Beth; Wright, Galen E B; Liu, Geoffrey; Renouf, Daniel J; Kollmannsberger, Christian K; Bedard, Philippe L; Aminkeng, Folefac; Amstutz, Ursula; Hildebrand, Claudette A; Gunaretnam, Erandika P; Critchley, Carol; Chen, Zhuo; Brunham, Liam R; Hayden, Michael R; Ross, Colin J D; Gelmon, Karen A; ... (2017). Association Between SLC16A5 Genetic Variation and Cisplatin-Induced Ototoxic Effects in Adult Patients With Testicular Cancer. JAMA oncology, 3(11), pp. 1558-1562. American Medical Association 10.1001/jamaoncol.2017.0502

Fux, Michaela; von Garnier, Christophe (2017). Sputum basophils and asthma diagnosis: dawn of a new era? Allergy, 72(10), pp. 1437-1439. Wiley-Blackwell 10.1111/all.13214

Baumann, Pierre; Amstutz, Ursula; Bühlmann, Roland P; Meier-Abt, Peter; Meyer, Urs A; Samer, Caroline; Ansari, Marc (2017). Pharmacogénomique et thérapie personnalisée. Revue médicale suisse, 13(573), pp. 1544-1545. Médecine & Hygiène

Mosimann, Beatrice; Pfiffner, Chantal; Amylidi-Mohr, Sofia; Risch, Lorenz; Surbek, Daniel; Raio, Luigi (2017). First trimester combined screening for preeclampsia and small for gestational age - a single centre experience and validation of the FMF screening algorithm. Swiss medical weekly, 147, w14498. EMH Schweizerischer Ärzteverlag 10.4414/smw.2017.14498

Probst, Fabian; Fischbacher, Urs; Lobmaier, Janek S.; Wirthmüller, Urs; Knoch, Daria (2017). Men's preferences for women's body odours are not associated with human leucocyte antigen. Proceedings of the Royal Society B: Biological sciences, 284(1864), pp. 1-6. The Royal Society 10.1098/rspb.2017.1830

Udhane, Sameer Sopanrao; Legeza, Balazs; Marti, Nesa Magdalena; Hertig, Damian; Diserens, Gaëlle; Nuoffer, Jean-Marc; Vermathen, Peter; Flück, Christa E (2017). Combined transcriptome and metabolome analyses of metformin effects reveal novel links between metabolic networks in steroidogenic systems. Scientific Reports, 7(1), p. 8652. Nature Publishing Group 10.1038/s41598-017-09189-y

Diserens, Gaëlle; Vermathen, Martina; Gjuroski, Ilche; Kurth, Sandra; Precht, Maria Christina; Vermathen, Peter (2017). 1High-Resolution Magic-Angle-Spinning NMR Spectroscopy to Determine Phosphate Sugars in Biological Tissues and Cell Cultures. CHIMIA, 71(7), p. 507. Schweizerische Chemische Gesellschaft 10.2533/chimia.2017.507

Krisai, Philipp; Aeschbacher, Stefanie; Ruperti Repilado, Francisco Javier; Schoen, Tobias; Reusser, Andreas; Meier, Manuel; Todd, John; Estis, Joel; Risch, Martin; Risch, Lorenz; Conen, David (2017). Healthy lifestyle and glucagon-like peptide-1 in young and healthy adults: A population-based study. Preventive medicine, 101, pp. 72-76. Elsevier 10.1016/j.ypmed.2017.05.025

Fischer, Andreas; Bossard, Matthias; Aeschbacher, Stefanie; Egli, Peter; Cordewener, Carolin; Estis, Joel; Todd, John; Risch, Martin; Risch, Lorenz; Conen, David (2017). Plasma levels of endothelin-1 and renal function among young and healthy adults. Clinical chemistry and laboratory medicine, 55(8), pp. 1202-1208. De Gruyter 10.1515/cclm-2016-0920

Vogel, Monique; Horn, Michael (2017). Isolation of Natural Anti-FcεRIα Autoantibodies from Healthy Donors. In: Natural Antibodies. Methods in molecular biology: Vol. 1643 (pp. 5-22). Springer 10.1007/978-1-4939-7180-0_2

Maseli, Anna; Aeschbacher, Stefanie; Schoen, Tobias; Fischer, Andreas; Jung, Manuel; Risch, Martin; Risch, Lorenz; Conen, David (2017). Healthy Lifestyle and Blood Pressure Variability in Young Adults. American journal of hypertension, 30(7), pp. 690-699. Oxford University Press 10.1093/ajh/hpx034

de Graauw, Elisabeth Louisa Maria; Sitaru, Cassian; Horn, Michael Peter; Borradori, Luca; Yousefi, Shida; Simon, Hans-Uwe; Simon, Dagmar (2017). Evidence for a role of eosinophils in blister formation in bullous pemphigoid. Allergy, 72(7), pp. 1105-1113. Wiley-Blackwell 10.1111/all.13131

Khan, Shaukat A; Peracha, Hira; Ballhausen, Diana; Wiesbauer, Alfred; Rohrbach, Marianne; Gautschi, Matthias; Mason, Robert W; Giugliani, Roberto; Suzuki, Yasuyuki; Orii, Kenji E; Orii, Tadao; Tomatsu, Shunji (2017). Epidemiology of mucopolysaccharidoses. Molecular genetics and metabolism, 121(3), pp. 227-240. Elsevier 10.1016/j.ymgme.2017.05.016

van Erven, Britt; Berry, Gerard T; Cassiman, David; Connolly, Geraldine; Forga, Maria; Gautschi, Matthias; Gubbels, Cynthia S; Hollak, Carla E M; Janssen, Mirian C; Knerr, Ina; Labrune, Philippe; Langendonk, Janneke G; Õunap, Katrin; Thijs, Abel; Vos, Rein; Wortmann, Saskia B; Rubio-Gozalbo, M Estela (2017). Fertility in adult women with classic galactosemia and primary ovarian insufficiency. Fertility and sterility, 108(1), pp. 168-174. Elsevier 10.1016/j.fertnstert.2017.05.013

Niederberger, Petra; Farine, Emilie; Arnold, Maria Regula; Wyss, Rahel Kathrin; Sanz-Garcia, Maria Nieves; Méndez Carmona, Natalia; Gahl, Brigitta; Fiedler, Georg Martin; Carrel, Thierry; Tevaearai Stahel, Hendrik T; Henning Longnus, Sarah (2017). High pre-ischemic fatty acid levels decrease cardiac recovery in an isolated rat heart model of donation after circulatory death. Metabolism, 71, pp. 107-117. Elsevier 10.1016/j.metabol.2017.03.007

Pabst, Thomas; Kortz, Linda; Fiedler, Georg Martin; Ceglarek, Uta; Idle, Jeffrey; Beyoglu, Diren (2017). The plasma lipidome in acute myeloid leukemia at diagnosis in relation to clinical disease features. BBA clinical, 7, pp. 105-114. Elsevier 10.1016/j.bbacli.2017.03.002

Jackson, Christopher B; Hahn, Dagmar; Schröter, Barbara; Richter, Uwe; Battersby, Brendan J; Schmitt-Mechelke, Thomas; Marttinen, Paula; Nuoffer, Jean-Marc; Schaller, André (2017). A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. European journal of medical genetics, 60(6), pp. 345-351. Elsevier 10.1016/j.ejmg.2017.04.006

Christophersen, Ingrid E; Rienstra, Michiel; Roselli, Carolina; Yin, Xiaoyan; Geelhoed, Bastiaan; Barnard, John; Lin, Honghuang; Arking, Dan E; Smith, Albert V; Albert, Christine M; Chaffin, Mark; Tucker, Nathan R; Li, Molong; Klarin, Derek; Bihlmeyer, Nathan A; Low, Siew-Kee; Weeke, Peter E; Müller-Nurasyid, Martina; Smith, J Gustav; Brody, Jennifer A; ... (2017). Large-scale analyses of common and rare variants identify 12 new loci associated with atrial fibrillation. Nature genetics, 49(6), pp. 946-952. Nature America 10.1038/ng.3843

Haider, Dominik; Klemenz, Thomas; Fiedler, Georg Martin; Nakas, Christos T.; Exadaktylos, Aristomenis; Leichtle, Alexander Benedikt (2017). In response to the letter to the editor on our manuscript "High sensitive cardiac troponin T: Testing the test" by Dr. Badertscher. International journal of cardiology, 234, p. 127. Elsevier 10.1016/j.ijcard.2017.01.114

Aminkeng, Folefac; Ross, Colin J D; Rassekh, Shahrad R; Rieder, Michael J; Bhavsar, Amit P; Sanatani, Shubhayan; Bernstein, Daniel; Hayden, Michael R; Amstutz, Ursula; Carleton, Bruce C (2017). Pharmacogenomic screening for anthracycline-induced cardiotoxicity in childhood cancer. British journal of clinical pharmacology, 83(5), pp. 1143-1145. Wiley-Blackwell 10.1111/bcp.13218

Lobmaier, Janek; Probst, Fabian; Fischbacher, Urs; Wirthmüller, Urs; Knoch, Daria (7 April 2017). Men's preferences for women's body odours are not associated with HLA (Unpublished). In: Annual conference of the European Human Behaviour and Evolution Association (EHBEA). Paris, France. 06.04.-08.04. 2017.

Kollmann, Zahraa; Schneider, S; Fux, Michaela; Bersinger, Nick A.; von Wolff, Michael (2017). Gonadotrophin stimulation in IVF alters the immune cell profile in follicular fluid and the cytokine concentrations in follicular fluid and serum. Human reproduction, 32(4), pp. 820-831. Oxford University Press 10.1093/humrep/dex005

Conrad, Tim O F; Genzel, Martin; Cvetkovic, Nada; Wulkow, Niklas; Leichtle, Alexander Benedikt; Vybiral, Jan; Kutyniok, Gitta; Schütte, Christof (2017). Sparse Proteomics Analysis - a compressed sensing-based approach for feature selection and classification of high-dimensional proteomics mass spectrometry data. BMC bioinformatics, 18(1), p. 160. BioMed Central 10.1186/s12859-017-1565-4

Pfortmueller, Carmen A; Lindner, Gregor; Funk, Georg-Christian; Leichtle, Alexander Benedikt; Fiedler, Martin; Schwarz, Christoph; Exadaktylos, Aristomenis (2017). Role of D-Dimer testing in venous thromboembolism with concomitant renal insufficiency in critical care. Intensive care medicine, 43(3), pp. 470-471. Springer 10.1007/s00134-016-4646-3

Amstutz, Ursula; Sokol, Lena; Vassella, Erik (2017). Liquid Biopsies in the personalized therapy of cancer patients. Schweizer Krebsbulletin / Bulletin suisse du cancer, 37(1), pp. 36-38. Istituto oncologico della Svizzera Italiana

Haider, Dominik; Klemenz, Thomas; Fiedler, Martin; Nakas, Christos T.; Exadaktylos, Aristomenis; Leichtle, Alexander Benedikt (2017). High sensitive cardiac troponin T: Testing the test. International journal of cardiology, 228, pp. 779-783. Elsevier 10.1016/j.ijcard.2016.10.043

Diserens, G; Hertig, Damian; Vermathen, Martina; Legeza, Balázs; Flück Pandey, Christa Emma; Nuoffer, Jean-Marc; Vermathen, Peter (2017). Metabolic stability of cells for extended metabolomical measurements using NMR. A comparison between lysed and additionally heat inactivated cells. The Analyst, 142(3), pp. 465-471. Royal Society of Chemistry 10.1039/c6an02195f

Tran, Christel; Serratrice, Jacques; Nuoffer, Jean-Marc; Schaller, André; Favrat, Bernard; Barbey, Frederic; Lobrinus, J Alexander; Kern, Ilse; Kuntzer, Thierry; Ballhausen, Diana (2017). [Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example]. Revue médicale suisse, 13(546), pp. 159-163. Médecine & Hygiène

Zinkernagel, Martin; Zysset-Burri, Denise Corinne; Keller, Irene; Berger, Lieselotte Erika; Leichtle, Alexander Benedikt; Largiadèr, Carlo Rodolfo; Fiedler, Martin; Wolf, Sebastian (2017). Association of the Intestinal Microbiome with the Development of Neovascular Age-Related Macular Degeneration. Scientific Reports, 7(40826), p. 40826. Nature Publishing Group 10.1038/srep40826

Courage, Carolina; Jackson, Christopher; Hahn, Dagmar; Euro, Liliya; Nuoffer, Jean-Marc; Gallati, Sabina; Schaller, André (2017). SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement. American journal of medical genetics. Part A, 173(1), pp. 225-230. Wiley-Liss 10.1002/ajmg.a.37986

Hagmann, B R; Odermatt, A; Kaufmann, Thomas; Dahinden, C A; Fux, Michaela (2017). Balance between IL-3 and type Iinterferons and their interrelationship with FasL dictates lifespan and effector functions of human basophils. Clinical and experimental allergy, 47(1), pp. 71-84. Wiley 10.1111/cea.12850

Kofler, Thomas; Thériault, Sébastien; Bossard, Matthias; Aeschbacher, Stefanie; Bernet, Selina; Krisai, Philipp; Blum, Steffen; Risch, Martin; Risch, Lorenz; Albert, Christine M.; Paré, Guillaume; Conen, David (2017). Relationships of Measured and Genetically Determined Height With the Cardiac Conduction System in Healthy Adults. Circulation. Arrhythmia and electrophysiology, 10(1) Lippincott Williams & Wilkins 10.1161/CIRCEP.116.004735

Hamzic, Seid; Wenger, N; Fröhlich, Tanja; Joerger, M; Aebi, Stefan; Largiadèr, Carlo Rodolfo; Amstutz, Ursula (2017). The impact of ABCC11 polymorphisms on the risk of early-onset fluoropyrimidine toxicity. Pharmacogenomics journal, 17(4), pp. 319-324. Nature Publishing Group 10.1038/tpj.2016.23

Stanger, Olaf; Grabherr, Michael; Gahl, Brigitta; Henning Longnus, Sarah; Meinitzer, Andreas; Fiedler, Martin; Tevaearai, Hendrik; Carrel, Thierry (2017). Thrombocytopaenia after aortic valve replacement with stented, stentless and sutureless bioprostheses. European journal of cardio-thoracic surgery, 51(2), pp. 340-346. Oxford University Press 10.1093/ejcts/ezw295

van Beek, Nina; Dähnrich, Cornelia; Johannsen, Nora; Lemcke, Susanne; Goletz, Stephanie; Hübner, Franziska; Di Zenzo, Giovanni; Dmochowski, Marian; Drenovska, Kossara; Geller, Shamir; Horn, Michael Peter; Kowalewski, Cezary; Medenica, Ljiljana; Murrell, Dedee F; Patsatsi, Aikaterini; Uzun, Soner; Vassileva, Snejina; Zillikens, Detlef; Schlumberger, Wolfgang and Schmidt, Enno (2017). Prospective studies on the routine use of a novel multivariant enzyme-linked immunosorbent assay for the diagnosis of autoimmune bullous diseases. Journal of the American Academy of Dermatology, 76(5), 889-894.e5. Elsevier 10.1016/j.jaad.2016.11.002

Kämpfer, Sacha S; Odermatt, Andrea; Dahinden, Clemens A; Fux, Michaela (2017). Late IL-3-induced phenotypic and functional alterations in human basophils require continuous IL-3 receptor signaling. Journal of leukocyte biology, 101(1), pp. 227-238. Society for Leukocyte Biology 10.1189/jlb.2A0715-292RR

Welling, Lindsey; Bernstein, Laurie E; Berry, Gerard T; Burlina, Alberto B; Eyskens, François; Gautschi, Matthias; Grünewald, Stephanie; Gubbels, Cynthia S; Knerr, Ina; Labrune, Philippe; van der Lee, Johanna H; MacDonald, Anita; Murphy, Elaine; Portnoi, Pat A; Õunap, Katrin; Potter, Nancy L; Rubio-Gozalbo, M Estela; Spencer, Jessica B; Timmers, Inge; Treacy, Eileen P; ... (2017). International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. Journal of inherited metabolic disease, 40(2), pp. 171-176. Springer 10.1007/s10545-016-9990-5

Lauber, Matthias; Plecko, Barbara; Pfiffner, Miriam; Nuoffer, Jean-Marc; Häberle, Johannes (2017). The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease. JIMD reports, 32, pp. 51-57. Springer 10.1007/8904_2016_571

Bankova, Andriyana; Andres, Yvonne; Horn, Michael Peter; Alberio, Lorenzo; Nagler, Michael (2017). Rapid immunoassays for diagnosis of heparin-induced thrombocytopenia: Comparison of diagnostic accuracy, reproducibility, and costs in clinical practice. PLoS ONE, 12(6), e0178289. Public Library of Science 10.1371/journal.pone.0178289

Imholz, Laurin; Meister-Langraf, Rebecca E; Princip, Mary; Fux, Michaela; Schnyder, Ulrich; Barth, Jürgen; Znoj, Hans Jörg; Schmid, Jean-Paul; von Känel, Roland (2017). Are Inflammatory Cytokines Associated with Pain during Acute Myocardial Infarction? Neuroimmunomodulation, 24(3), pp. 154-161. Karger 10.1159/000481455

Müller, Martin; Guignard, Viviane; Schefold, Joerg C.; Leichtle, Alexander Benedikt; Exadaktylos, Aristomenis; Pfortmüller, Carmen (2017). Utility of quick sepsis-related organ failure assessment (qSOFA) to predict outcome in patients with pneumonia. PLoS ONE, 12(12), e0188913. Public Library of Science 10.1371/journal.pone.0188913

Prost, Jean-Christophe; Brunner, Felix; Bovet, Cédric; Grob, Christian; Berchtold, Christian; Schlotterbeck, Götz; Kröll, Dino; Largiadèr, Carlo Rodolfo; Fiedler, Georg Martin; Juillerat, Pascal (2017). A UHPLC–MS/MS method for the quantification of 7α-hydroxy-4-cholesten-3-one to assist in diagnosis of bile acid malabsorption. Clinical mass spectrometry, 3, pp. 1-6. Elsevier 10.1016/j.clinms.2017.02.001

Wortmann, Saskia; Mayr, Johannes; Nuoffer, Jean-Marc; Prokisch, Holger; Sperl, Wolfgang (2017). A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era. Neuropediatrics, 48(04), pp. 309-314. Thieme 10.1055/s-0037-1603776

Ducray, Angélique; Felser, Andrea Debora; Zielinski, Jana; Bittner, Aniela; Bürgi, Julia Verena; Nuoffer, Jean-Marc; Frenz, Martin; Mevissen, Meike (2017). Effects of silica nanoparticle exposure on mitochondrial function during neuronal differentiation. Journal of nanobiotechnology, 15(1), p. 49. BioMed Central 10.1186/s12951-017-0284-3

Mosimann, Beatrice; Amylidi-Mohr, Sofia; Höland, Katrin; Surbek, Daniel; Risch, Lorenz; Raio, Luigi (2017). Importance of Timing First-Trimester Placental Growth Factor and Use of Serial First-Trimester Placental Growth Factor Measurements in Screening for Preeclampsia. Fetal diagnosis and therapy, 42(2), pp. 111-116. Karger 10.1159/000455946

Yin, Jingjing; Nakas, Christos T.; Tian, Lili; Reiser, Benjamin (2017). Confidence intervals for differences between volumes under receiver operating characteristic surfaces (VUS) and generalized Youden indices (GYIs). Statistical Methods in Medical Research, 27(3), pp. 675-688. SAGE Publications (UK and US) 10.1177/0962280217740787

von Meyer, Alexander; Cadamuro, Janne; Streichert, Thomas; Gurr, Eberhard; Fiedler, Georg Martin; Leichtle, Alexander Benedikt; Petersmann, Astrid; Pick, Karl-Heinz; Orth, Matthias; Risch, Lorenz; Sonntag, Oswald; Schmitt, York; Wiegel, Bernhard; Töpfer, Gottfried; Guder, Walter G. (2017). Standard-Arbeitsanleitung zur peripher venösen Blutentnahme für die labormedizinische Diagnostik. LaboratoriumsMedizin / Journal of laboratory medicine, 41(6), pp. 333-340. De Gruyter 10.1515/labmed-2017-0127

Bally, Lia; Bovet, Cédric; Nakas, Christos T.; Zueger, Thomas; Prost, Jean-Christophe; Nuoffer, Jean-Marc; Leichtle, Alexander Benedikt; Fiedler, Georg Martin; Stettler, Christoph (2017). A metabolomics approach to uncover effects of different exercise modalities in type 1 diabetes. Metabolomics, 13(7) Springer 10.1007/s11306-017-1217-8

Welling, Lindsey; Waisbren, Susan E; Antshel, Kevin M; Colhoun, Hugh-Owen; Gautschi, Matthias; Grünewald, Stephanie; Holman, Rebecca; van der Lee, Johanna H; Treacy, Eileen P; Bosch, Annet M (2017). Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. JIMD reports, 37, pp. 115-123. Springer 10.1007/8904_2017_22

Hamzic, Seid; Kummer, Dominic; Milesi, S; Mueller, D; Joerger, M; Aebi, S; Amstutz, Ursula; Largiadèr, Carlo Rodolfo (2017). Novel Genetic Variants in Carboxylesterase 1 Predict Severe Early-Onset Capecitabine-Related Toxicity. Clinical pharmacology & therapeutics, 102(5), pp. 796-804. Wiley 10.1002/cpt.641

Bakker, Theo C. M.; Giger, Thomas; Frommen, Joachim Gerhard; Largiadèr, Carlo Rodolfo (2017). Rapid molecular sexing of three-spined sticklebacks, Gasterosteus aculeatus L., based on large Y-chromosomal insertions. Journal of applied genetics, 58(3), pp. 401-407. Springer 10.1007/s13353-017-0399-0

Jegerlehner, Sabrina; Fiedler, Georg Martin; Exadaktylos, Aristomenis (2017). Mythen und Missverständnisse in der Notfall-Labormedizin – Treat the Patient, Not the Blood Test. Praxis - schweizerische Rundschau für Medizin, 106(23), pp. 1273-1277. Huber 10.1024/1661-8157/a002818

Schoen, Tobias; Aeschbacher, Stefanie; Leuppi, Joerg D; Miedinger, David; Werthmüller, Ursina; Estis, Joel; Todd, John; Risch, Martin; Risch, Lorenz; Conen, David (2017). Subclinical sleep apnoea and plasma levels of endothelin-1 among young and healthy adults. Open Heart, 4(1), e000523. B M J Group 10.1136/openhrt-2016-000523

2016

Häfliger, Stefanie; Horn, Michael Peter; Suter, Valérie; Bornstein, Michael M; Borradori, Luca (2016). Rituximab for the Treatment of Isolated Refractory Desquamative Gingivitis Due to Mucous Membrane Pemphigoid. JAMA dermatology, 152(12), pp. 1396-1398. American Medical Association 10.1001/jamadermatol.2016.3434

Bally, Lia; Dehais, Joachim Blaise; Nakas, Christos T.; Anthimopoulos, Marios; Laimer, Markus; Rhyner, Daniel Kaspar; Rosenberg, George; Züger, Thomas; Diem, Peter; Mougiakakou, Stavroula; Stettler, Christoph (2016). Carbohydrate Estimation Supported by the GoCARB system in Individuals With Type 1 Diabetes: A Randomized Prospective Pilot Study. Diabetes care, 40(2), dc162173. American Diabetes Association 10.2337/dc16-2173

Farine, Emilie; Niederberger, Petra; Wyss, Rahel; Méndez-Carmona, Natalia; Gahl, Brigitta; Fiedler, Martin; Carrel, Thierry; Tevaearai, Hendrik; Henning Longnus, Sarah (2016). Controlled Reperfusion Strategies Improve Cardiac Hemodynamic Recovery after Warm Global Ischemia in an Isolated, Working Rat Heart Model of Donation after Circulatory Death (DCD). Frontiers in psychology, 7 Frontiers Research Foundation 10.3389/fphys.2016.00543

Smy, Laura; Shaw, Kaitlyn; Amstutz, Ursula; Smith, Anne; Berger, Howard; Carleton, Bruce; Koren, Gideon (2016). Hair cortisol as a hypothalamic-pituitary-adrenal axis biomarker in pregnant women with asthma: a retrospective observational study. BMC pregnancy and childbirth, 16(1)(176), p. 176. BioMed Central 10.1186/s12884-016-0962-4

Diserens, Gaëlle; Hertig, Damian; Eggimann, Sandra; Vermathen, Martina; Furrer, Julien; Nuoffer, Jean-Marc; Vermathen, Peter (27 June 2016). Improving the metabolic stability of cultured cells during extended HR-MAS NMR measurements by prior heating (Unpublished). In: 12th Annual Conference of the Metabolomics Society. Dublin, Ireland. 27.-30.06.2016.

Gerofotis, Christos D; Ioannou, Charalampos S; Nakas, Christos T.; Papadopoulos, Nikos T (2016). The odor of a plant metabolite affects life history traits in dietary restricted adult olive flies. Scientific Reports, 6, p. 28540. Nature Publishing Group 10.1038/srep28540

Sauter, Thomas; Ziegenhorn, Stephan; Ahmad, Sufian; Hautz, Wolf; Ricklin, Meret; Leichtle, Alexander Benedikt; Fiedler, Martin; Haider, Dominik; Exadaktylos, Aristomenis (2016). Age is not associated with intracranial haemorrhage in patients with mild traumatic brain injury and oral anticoagulation. Journal of negative results in biomedicine, 15(1), p. 12. BioMed Central 10.1186/s12952-016-0055-y

Zanchin, Thomas; Räber, Lorenz; Koskinas, Konstantinos C; Piccolo, Raffaele; Jüni, Peter; Pilgrim, Thomas; Stortecky, Stefan; Khattab, Ahmed A; Wenaweser, Peter; Bloechlinger, Stefan; Moschovitis, Aris; Frenk, André; Moro, Christina; Meier, Bernhard; Fiedler, Martin; Heg, Dik; Windecker, Stephan (2016). Preprocedural High-Sensitivity Cardiac Troponin T and Clinical Outcomes in Patients With Stable Coronary Artery Disease Undergoing Elective Percutaneous Coronary Intervention. Circulation: Cardiovascular interventions, 9(6), e003202. Lippincott Williams & Wilkins 10.1161/CIRCINTERVENTIONS.115.003202

Dhayat, Nasser; Ackermann, Daniel; Pruijm, Menno; Ponte, Belen; Ehret, Georg; Guessous, Idris; Leichtle, Alexander Benedikt; Paccaud, Fred; Mohaupt, Markus; Fiedler, Martin; Devuyst, Olivier; Pechère-Bertschi, Antoinette; Burnier, Michel; Martin, Pierre-Yves; Bochud, Murielle; Vogt, Bruno; Fuster, Daniel Guido (2016). Fibroblast growth factor 23 and markers of mineral metabolism in individuals with preserved renal function. Kidney international, 90(3), pp. 648-657. Elsevier 10.1016/j.kint.2016.04.024

Aminkeng, Folefac; Ross, Colin J D; Rassekh, Shahrad R; Hwang, Soomi; Rieder, Michael J; Bhavsar, Amit P; Smith, Anne; Sanatani, Shubhayan; Gelmon, Karen A; Bernstein, Daniel; Hayden, Michael R; Carleton, Bruce C; Amstutz, Ursula (2016). Recommendations for Genetic Testing to Reduce the Incidence of Anthracycline-induced Cardiotoxicity. British journal of clinical pharmacology, 82(3), pp. 683-695. Wiley-Blackwell 10.1111/bcp.13008

Keller, Peter; Rufener, Janine; Schild, Christof; Fedosov, Sergey N; Nissen, Peter H; Nexo, Ebba (2016). False low holotranscobalamin levels in a patient with a novel TCN2 mutation. Clinical chemistry and laboratory medicine, 54(11), pp. 1739-1743. De Gruyter 10.1515/cclm-2016-0063

Kuilenburg, André B P van; Meijer, Judith; Tanck, Michael W T; Dobritzsch, Doreen; Zoetekouw, Lida; Dekkers, Lois-Lee; Roelofsen, Jeroen; Meinsma, Rutger; Wymenga, Machteld; Kulik, Wim; Büchel, Barbara; Hennekam, Raoul C M; Largiadèr, Carlo Rodolfo (2016). Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene. Biochimica et biophysica acta - molecular basis of disease, 1862(4), pp. 754-762. Elsevier 10.1016/j.bbadis.2016.01.009

Lee, Jong W; Pussegoda, Kusala; Rassekh, Rod S; Monzon, Jose G; Liu, Geoffrey; Hwang, Soomi; Bhavsar, Amit P; Pritchard, Sheila; Ross, Colin J; Carleton, Bruce C; Amstutz, Ursula (2016). Clinical Practice Recommendations For The Management And Prevention Of Cisplatin-Induced Hearing Loss Using Pharmacogenetic Markers. Therapeutic drug monitoring, 38(4), p. 1. Lippincott Williams & Wilkins 10.1097/FTD.0000000000000298

Reiser, Benjamin; Nakas, Christos T. (2016). On 'Efficient statistical tests to compare Youden index: accounting for contingency correlation'. Statistics in medicine, 35(4), pp. 635-636. Wiley-Blackwell 10.1002/sim.6574

Koskinas, Konstantinos; Stortecky, Stefan; Franzone, Anna; O'Sullivan, Crochan J; Praz, Fabien; Zuk, Katarzyna; Räber, Lorenz; Pilgrim, Thomas; Moschovitis, Aris; Fiedler, Martin; Jüni, Peter; Heg, Dik; Wenaweser, Peter Martin; Windecker, Stephan (2016). Post-Procedural Troponin Elevation and Clinical Outcomes Following Transcatheter Aortic Valve Implantation. Journal of the American Heart Association, 5(2), e002430. American Heart Association 10.1161/JAHA.115.002430

Haider, Dominik; Lindner, Gregor; Wolzt, Michael; Leichtle, Alexander Benedikt; Fiedler, Martin; Sauter, Thomas; Fuhrmann, Valentin; Exadaktylos, Aristomenis (2016). Use of Diuretics is not associated with mortality in patients admitted to the emergency department: results from a cross-sectional study. Journal of negative results in biomedicine, 15(1), p. 1. BioMed Central 10.1186/s12952-016-0044-1

Schild, Christof; Nuoffer, Jean-Marc; Egger, Florence (2016). Diagnostik monoklonaler Gammopathien: Analytische Fallstricke und Interferenzen. Pipette - Swiss laboratory medicine, 2016(1), pp. 9-11. EMH Schweizerischer Ärzteverlag AG

Pichler Hefti, Jacqueline Renée; Leichtle, Alexander Benedikt; Stutz, Monika; Hefti, Urs; Geiser, Thomas; Huber, Andreas R; Merz, Tobias Michael (2016). Increased endothelial microparticles and oxidative stress at extreme altitude. European journal of applied physiology, 116(4), pp. 739-748. Springer 10.1007/s00421-015-3309-3

Meulendijks, D; Henricks, LM; Amstutz, Ursula; Fröhlich, Tanja; Largiadèr, Carlo Rodolfo; Beijnen, JH; de Boer, A; Deenen, MJ; Cats, A; Schellens, JHM (2016). Rs895819 in MIR27A improves the predictive value of DPYD variants to identify patients at risk of severe fluoropyrimidine-associated toxicity. International journal of cancer, 138(11), pp. 2752-2761. Wiley-Blackwell 10.1002/ijc.30014

von Krogh, A S; Quist-Paulsen, P; Waage, A; Langseth, Ø O; Thorstensen, K; Brudevold, R; Tjønnfjord, G E; Largiadèr, Carlo Rodolfo; Lämmle, Bernhard; Kremer Hovinga, Johanna Anna (2016). High prevalence of hereditary thrombotic thrombocytopenic purpura in Central Norway: from clinical observation to evidence. Journal of thrombosis and haemostasis, 14(1), pp. 73-82. Wiley-Blackwell 10.1111/jth.13186

Amylidi, Sofia Kalypso; Mosimann, Beatrice; Stettler, Christoph; Fiedler, Martin; Surbek, Daniel; Raio, Luigi (2016). First-trimester glycosylated hemoglobin in women at high risk for gestational diabetes. Acta obstetricia et gynecologica Scandinavica, 95(1), pp. 93-97. Wiley-Blackwell 10.1111/aogs.12784

Jackson, Christopher; Bauer, M F; Schaller, André; Kotzaeridou, U; Ferrarini, A; Hahn, Dagmar Karen; Chehade, H; Barbey, F; Tran, C; Gallati, S; Haeberli, Annemarie; Eggimann, S; Bonafé, L; Nuoffer, Jean-Marc (2016). A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. European journal of pediatrics, 175(4), pp. 517-525. Springer 10.1007/s00431-015-2661-y

Bally, Lia; Züger, Thomas; Stettler, Christoph; Leichtle, Alexander Benedikt (2016). Computed exercise plasma lactate concentrations: A conversion formula. Practical Laboratory Medicine, 4, pp. 11-15. Elsevier 10.1016/j.plabm.2015.11.002

Lesche, Dorothea; Geyer, Roland; Lienhard, Daniel; Nakas, Christos T.; Diserens, Gaëlle; Vermathen, Peter; Leichtle, Alexander Benedikt (2016). Does centrifugation matter? Centrifugal force and spinning time alter the plasma metabolome. Metabolomics, 12(10), p. 159. Springer 10.1007/s11306-016-1109-3

Laemmle, Alexander; Gallagher, Renata C; Keogh, Adrian; Stricker, Tamar; Gautschi, Matthias; Nuoffer, Jean-Marc; Baumgartner, Matthias R; Häberle, Johannes (2016). Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). PLoS ONE, 11(4), e0153358. Public Library of Science 10.1371/journal.pone.0153358

Friedli, Bernhard Christoph; Brunner, Felix; Prost, Jean-Christophe; Bovet, Cédric; Kröll, Dino; Macpherson, Andrew; Juillerat, Pascal (2016). 7α-hydroxy-4-cholesten-3-one for Diagnosis and Management of Bile Acid Malabsorption: first year clinical experience. (Unpublished). In: SGG/SSG Annual Congress.

Pfortmueller, Carmen Andrea; Drexel, Christian; Krähenmann-Müller, Simone; Leichtle, Alexander Benedikt; Fiedler, Martin; Exadaktylos, Aristomenis (2016). S-100 B Concentrations Are a Predictor of Decreased Survival in Patients with Major Trauma, Independently of Head Injury. PLoS ONE, 11(3), e0152822. Public Library of Science 10.1371/journal.pone.0152822

Nakas, Christos T.; Schütz, Narayan; Werners, Marcus; Leichtle, Alexander Benedikt (2016). Accuracy and Calibration of Computational Approaches for Inpatient Mortality Predictive Modeling. PLoS ONE, 11(7), e0159046. Public Library of Science 10.1371/journal.pone.0159046

Ceglarek, Uta; Kresse, Kathleen; Becker, Susen; Fiedler, Martin; Thiery, Joachim; Quante, Markus; Wieland, Robert; Bartels, Michael (2016). Circulating sterols as predictors of early allograft dysfunction and clinical outcome in patients undergoing liver transplantation. Metabolomics, 12(12), p. 182. Springer 10.1007/s11306-016-1129-z

2015

Meulendijks, Didier; Henricks, Linda M.; Sonke, Gabe S.; Deenen, Maarten J.; Froehlich, Tanja K.; Amstutz, Ursula; Largiadèr, Carlo R.; Jennings, Barbara A.; Marinaki, Anthony M.; Sanderson, Jeremy D.; Kleibl, Zdenek; Kleiblova, Petra; Schwab, Matthias; Zanger, Ulrich M; Palles, Claire; Tomlinson, Ian; Gross, Eva; van Kuilenburg, André B. P.; Punt, Cornelis J. A.; Koopman, Miriam; ... (2015). Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data. The lancet oncology, 16(16), pp. 1639-1650. Elsevier 10.1016/S1470-2045(15)00286-7

Lesche, Dorothea; Sigurdardottir, Vilborg; Setoud, Raschid; Englberger, Lars; Fiedler, Georg M.; Largiadèr, Carlo R.; Mohacsi, Paul; Sistonen, Johanna (2015). Influence of CYP3A5 genetic variation on everolimus maintenance dosing after cardiac transplantation. Clinical transplantation, 29(12), pp. 1213-1220. Wiley-Blackwell 10.1111/ctr.12653

Studer, Martina; Goeggel Simonetti, Barbara; Heinks Maldonado, Theda; Steinlin, Maja; Leichtle, Alexander Benedikt; Berger, Steffen Michael; Joeris, Alexander (2015). Acute S100B in serum is associated with cognitive symptoms and memory performance 4 months after paediatric mild traumatic brain injury. Brain injury, 29(13-14), pp. 1667-1673. Informa Healthcare 10.3109/02699052.2015.1075250

Arrizza, Chiara; De Gottardi, Andrea; Foglia, Ezio; Baumgartner, Matthias; Gautschi, Matthias; Nuoffer, Jean-Marc (2015). Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up. Transplant international, 28(12), pp. 1447-1450. Wiley-Blackwell 10.1111/tri.12677

Lindner, G; Heldner, Mirjam Rachel; Bernasconi, Corrado Angelo; Funk, G C; Arnold, Marcel; Schwarz, C; Leichtle, Alexander Benedikt; Fiedler, Martin; Gralla, Jan; Mattle, Heinrich; Exadaktylos, Aristomenis; Fischer, Urs (2015). Prevalence of dysnatremias and their implication on outcome during acute ischemic stroke and transient ischemic attack: A cross-sectional analysis. International journal of stroke, 10(Suppl 2), p. 241. Blackwell Publishing

Cioccari, Luca; Gautschi, Matthias; Etter, Reto; Weck, Anja; Takala, Jukka (2015). Further Concerns About Glutamine: A Case Report on Hyperammonemic Encephalopathy. Critical care medicine, 43(10), e458-e460. Lippincott Williams & Wilkins 10.1097/CCM.0000000000001151

Eggimann, Sandra; Diserens, Gaëlle; Hertig, Damian; Vermathen, Martina; Furrer, Julien; Vermathen, Peter; Nuoffer, Jean-Marc (September 2015). Metabolic investigations of intact fibroblasts by 1H HR-MAS NMR Spectroscopy (Unpublished). In: SSIEM “Society for the Study of Inborn Errors of Metabolism” Annual Symposium. Lyon, France. 01.-04.09.2015.

Haider, Dominik; Lindner, Gregor; Ahmad, Sufian; Sauter, Thomas; Wolzt, Michael; Leichtle, Alexander Benedikt; Fiedler, Martin; Exadaktylos, Aristomenis; Fuhrmann, Valentin (2015). Hypermagnesemia is a strong independent risk factor for mortality in critically ill patients: results from a cross-sectional study. European journal of internal medicine, 26(7), pp. 504-507. Pozzi 10.1016/j.ejim.2015.05.013

Aminkeng, Folefac; Bhavsar, Amit P; Visscher, Henk; Rassekh, Shahrad R; Li, Yuling; Lee, Jong W; Brunham, Liam R; Caron, Huib N; van Dalen, Elvira C; Kremer, Leontien C; van der Pal, Helena J; Amstutz, Ursula; Rieder, Michael J; Bernstein, Daniel; Carleton, Bruce C; Hayden, Michael R; Ross, Colin J D (2015). A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer. Nature genetics, 47(9), pp. 1079-1084. Nature America 10.1038/ng.3374

Leichtle, Alexander Benedikt; Findeisen, Peter (2015). 7.7 Biobanking. In: Guder, Walter G.; Narayanan, Sheshadri (eds.) Pre-examination Procedures in Laboratory Diagnostics. Preanalytical Aspects and their Impact on the Quality of Medical Laboratory Results (pp. 328-334). Berlin: De Gruyter 10.1515/9783110334043-038

Shaw, Kaitlyn; Amstutz, Ursula; Kim, Richard B; Lesko, Lawrence J; Turgeon, Jacques; Michaud, Veronique; Hwang, Soomi; Ito, Shinya; Ross, Colin; Carleton, Bruce C (2015). Clinical Practice Recommendations on Genetic Testing of CYP2C9 and VKORC1 Variants in Warfarin Therapy. Therapeutic drug monitoring, 37(4), pp. 428-436. Lippincott Williams & Wilkins 10.1097/FTD.0000000000000192

Kummer, Dominic; Fröhlich, Tanja; Joerger, Markus; Aebi, Stefan; Sistonen, Johanna; Amstutz, Ursula; Largiadèr, Carlo Rodolfo (2015). Dihydropyrimidinase and β-ureidopropionase gene variation and severe fluoropyrimidine-related toxicity. Pharmacogenomics, 16(12), pp. 1367-1377. Future Medicine 10.2217/pgs.15.81

Jiménez-Triana, Clímaco Andres; Castelán-Martínez, Osvaldo D.; Rivas-Ruiz, Rodolfo; Jiménez-Méndez, Ricardo; Medina, Aurora; Clark, Patricia; Rassekh, Rod; Castañeda-Hernández, Gilberto; Carleton, Bruce; Medeiros, Mara; Amstutz, Ursula; Canadian Pharmacogenomics Network for Drug Safety Consortium, CPNDS (2015). Cisplatin Nephrotoxicity and Longitudinal Growth in Children With Solid Tumors: A Retrospective Cohort Study. Medicine, 94(34), e1413. Lippincott Williams & Wilkins 10.1097/MD.0000000000001413

Visscher, Henk; Rassekh, S Rod; Sandor, George S; Caron, Huib N; van Dalen, Elvira C; Kremer, Leontien C; van der Pal, Helena J; Rogers, Paul C; Rieder, Michael J; Carleton, Bruce C; Hayden, Michael R; Ross, Colin J; Amstutz, Ursula; Canadian Pharmacogenomics Network for Drug Safety consortium, CPNDS (2015). Genetic variants in SLC22A17 and SLC22A7 are associated with anthracycline-induced cardiotoxicity in children. Pharmacogenomics, 16(10), pp. 1065-1076. Future Medicine 10.2217/pgs.15.61

Häfliger, Stefanie; Klötgen, Hans-Wilhelm; Horn, Michael Peter; Beltraminelli, Helmut; Borradori, Luca (2015). Erythrodermic Epidermolysis Bullosa Acquisita. JAMA dermatology, 151(6), pp. 678-680. American Medical Association 10.1001/jamadermatol.2015.31

Klinke, Glynis; Rohrbach, Marianne; Giugliani, Roberto; Burda, Patricie; Baumgartner, Matthias R; Tran, Christel; Gautschi, Matthias; Mathis, Déborah; Hersberger, Martin (2015). LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases. Clinical biochemistry, 48(9), pp. 596-602. Elsevier 10.1016/j.clinbiochem.2015.03.007

Amstutz, Ursula; Offer, Steven M; Sistonen, Johanna; Joerger, Markus; Diasio, Robert B; Largiadèr, Carlo Rodolfo (2015). Polymorphisms in MIR27A Associated with Early-Onset Toxicity in Fluoropyrimidine-Based Chemotherapy. Clinical cancer research, 21(9), pp. 2038-2044. American Association for Cancer Research 10.1158/1078-0432.CCR-14-2817

Haack, Tobias B; Jackson, Christopher; Murayama, Kei; Kremer, Laura S; Schaller, André; Kotzaeridou, Urania; de Vries, Maaike C; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Seila; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; ... (2015). Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. Annals of Clinical and Translational Neurology, 2(5), pp. 492-509. Wiley 10.1002/acn3.189

Lämmle, Alexander; Hahn, Dagmar Karen; Hu, Liyan; Rüfenacht, Véronique; Gautschi, Matthias; Leibundgut, Kurt; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. Molecular genetics and metabolism, 114(3), pp. 438-444. Elsevier 10.1016/j.ymgme.2015.01.002

Fröhlich, Tanja; Amstutz, Ursula; Aebi, Stefan; Joerger, Markus; Largiadèr, Carlo Rodolfo (2015). Clinical importance of risk variants in the dihydropyrimidine dehydrogenase gene for the prediction of early-onset fluoropyrimidine toxicity. International journal of cancer, 136(3), pp. 730-739. Wiley-Blackwell 10.1002/ijc.29025

Gautschi, Matthias; Weisstanner, Christian; Slotboom, Johannes; Nava, Esmeralda; Zürcher, Theres; Nuoffer, Jean-Marc (2015). Highly efficient ketone body treatment in multiple acyl-CoA dehydrogenase deficiency-related leukodystrophy. Pediatric research, 77(1), pp. 91-98. Nature Publishing Group 10.1038/pr.2014.154

Patsenker, Eleanora; Sachse, Philip; Chicca, Andrea; Gachet Otanez, Maria Salomé; Schneider, Vreni; Mattsson, Johan; Lanz, Christian; Worni, Mathias; De Gottardi, Andrea; Semmo, Mariam; Hampe, Jochen; Schafmayer, Clemens; Brenneisen, Rudolf Max; Gertsch, Jürg; Stickel, Felix; Semmo, Nasser (2015). Elevated levels of endocannabinoids in chronic hepatitis C may modulate cellular immune response and hepatic stellate cell activation. International journal of molecular sciences, 16(4), pp. 7057-7076. Molecular Diversity Preservation International MDPI 10.3390/ijms16047057

Raczynska, Katarzyna Dorota; Ruepp, Marc-David; Brzek, Aleksandra; Reber, Stefan; Romeo, Valentina; Rindlisbacher, Barbara; Heller, Manfred; Szweykowska-Kulinska, Zofia; Jarmolowski, Artur; Schümperli, Daniel (2015). FUS/TLS contributes to replication-dependent histone gene expression by interaction with U7 snRNPs and histone-specific transcription factors. Nucleic acids research, 43(20), pp. 9711-9728. Oxford University Press 10.1093/nar/gkv794

Gautschi, O.; Mach, N.; Rothschild, S.; Li, Qiyu; Stahel, R. A.; Zippelius, A.; Cathomas, R.; Früh, M.; Betticher, D. C.; Peters, S.; Rauch, D.; Feilchenfeldt, J.; Bubendorf, L.; Savic, S.; Jaggi, Rolf; Oppliger Leibundgut, Elisabeth; Largiadèr, Carlo Rodolfo; Brutsche, M.; Pilop, C.; Stalder, L.; ... (2015). Bevacizumab, Pemetrexed, and Cisplatin, or Bevacizumab and Erlotinib for Patients With Advanced Non-Small-Cell Lung Cancer Stratified by Epidermal Growth Factor Receptor Mutation: Phase II Trial SAKK19/09. Clinical lung cancer, 16(5), pp. 358-365. Elsevier 10.1016/j.cllc.2015.02.007

Sauter, Thomas; Lindner, Gregor; Ahmad, Sufian; Leichtle, Alexander Benedikt; Fiedler, Martin; Exadaktylos, Aristomenis; Haider, Dominik (2015). Calcium Disorders in the Emergency Department: Independent Risk Factors for Mortality. PLoS ONE, 10(7), e0132788. Public Library of Science 10.1371/journal.pone.0132788

Pfortmüller, Carmen; Pauchard-Neuwerth, Sandra Elisabeth; Leichtle, Alexander Benedikt; Fiedler, Martin; Exadaktylos, Aristomenis; Lindner, Gregor (2015). Primary Hyperventilation in the Emergency Department: A First Overview. PLoS ONE, 10(6), e0129562. Public Library of Science 10.1371/journal.pone.0129562

Pfortmüller, Carmen; Drexel, C; Krähenmann-Müller, S; Leichtle, Alexander Benedikt; Fiedler, Martin; Lindner, G; Exadaktylos, AK (2015). S-100 B Concentrations Are a Predictor of Decreased Survival in Patients With Major Trauma Independently of Head Injury. Intensive care medicine experimental, 3(Suppl 1), A31. Springer 10.1186/2197-425X-3-S1-A31

Leichtle, Alexander Benedikt (2015). Biomarker – vom Sein und Wesen. LaboratoriumsMedizin / Journal of laboratory medicine, 39(2), pp. 97-101. De Gruyter 10.1515/labmed-2015-0033

Haider, Dominik; Lindner, Gregor; Wolzt, Michael; Ahmad, Sufian S; Sauter, Thomas; Leichtle, Alexander Benedikt; Fiedler, Georg-Martin; Fuhrmann, Valentin; Exadaktylos, Aristomenis (2015). Hyperphosphatemia Is an Independent Risk Factor for Mortality in Critically Ill Patients: Results from a Cross-Sectional Study. PLoS ONE, 10(8), e0133426. Public Library of Science 10.1371/journal.pone.0133426

2014

Lesche, Dorothea; Sigurdardottir, Vilborg; Setoud, Raschid; Oberhänsli, Markus; Carrel, Thierry; Fiedler, Georg M; Largiadèr, Carlo Rodolfo; Mohacsi, Paul; Sistonen, Johanna (2014). CYP3A5*3 and POR*28 genetic variants influence the required dose of tacrolimus in heart transplant recipients. Therapeutic drug monitoring, 36(6), pp. 710-715. Lippincott Williams & Wilkins 10.1097/FTD.0000000000000080

Abela, Lucia; Plecko, Barbara; Palla, Antonella; Burda, Patricie; Nuoffer, Jean-Marc; Ballhausen, Diana; Rohrbach, Marianne (2014). Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study. Orphanet journal of rare diseases, 9(1), p. 176. BioMed Central 10.1186/s13023-014-0176-7

Lindner, G; Funk, G-C; Leichtle, Alexander Benedikt; Fiedler, Martin; Schwarz, Christa; Eleftheriadis, T; Pasch, Andreas; Mohaupt, Markus; Exadaktylos, Aristomenis; Arampatzis, Spyridon (2014). Impact of proton pump inhibitor use on magnesium homoeostasis: a cross-sectional study in a tertiary emergency department. International Journal of Clinical Practice, 68(11), pp. 1352-1357. Wiley 10.1111/ijcp.12469

Aeberhard, Nicole; Schild, Christof; Rodondi, Nicolas; Roten, Christine; Tänzler, Kristina (2014). Phosphate disorders: hyperphosphatemia or pseudohyperphosphatemia? Praxis - schweizerische Rundschau für Medizin, 103(20), pp. 1203-1206. Huber 10.1024/1661-8157/a001792

Sokollik, Christiane; Müller-Suter, Dominik; Nuoffer, Jean-Marc (2014). Stunted growth, splenomegaly, and interstitial pneumopathy. Gastroenterology, 147(4), e3-4. Elsevier 10.1053/j.gastro.2014.04.052

Jackson, Christopher; Neuwirth, Christoph; Hahn, Dagmar Karen; Nuoffer, Jean-Marc; Frank, Stephan; Gallati, Sabina; Schaller, André (2014). Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. British journal of ophthalmology, 98(10), pp. 1453-1459. BMJ Publishing Group 10.1136/bjophthalmol-2014-305300

Sistonen, Johanna; Büchel, Barbara; Fröhlich, Tanja; Kummer, Dominic; Fontana, Stefano; Joerger, Markus; van Kuilenburg, André B P; Largiadèr, Carlo Rodolfo (2014). Predicting 5-fluorouracil toxicity: DPD genotype and 5,6-dihydrouracil:uracil ratio. Pharmacogenomics, 15(13), pp. 1653-1666. Future Medicine 10.2217/pgs.14.126

Mayorandan, Sebene; Meyer, Uta; Gokcay, Gülden; Segarra, Nuria; de Baulny, Hélène; van Spronsen, Francjan; Zeman, Jiri; de Laet, Corinne; Spiekerkoetter, Ute; Thimm, Eva; Maiorana, Arianna; Dionisi-Vici, Carlo; Moeslinger, Dorothea; Brunner-Krainz, Michaela; Lotz-Havla, Amelie; Cocho de Juan, José; Couce Pico, Maria; Santer, René; Scholl-Bürgi, Sabine; Mandel, Hanna; ... (2014). Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet journal of rare diseases, 9(1), p. 107. BioMed Central 10.1186/s13023-014-0107-7

Gautschi, Matthias; Merlini, Laura; Calza, Anne-Marie; Hayflick, Susan; Nuoffer, Jean-Marc; Fluss, Joel (2014). Late diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. European journal of paediatric neurology, 18(4), pp. 516-519. Elsevier 10.1016/j.ejpn.2014.02.005

Jackson, Christopher; Zbinden, C; Gallati, Sabina; Schaller, André (2014). Heterologous expression from the human D-Loop in organello. Mitochondrion, 17, pp. 67-75. Elsevier 10.1016/j.mito.2014.05.011

Shaw, Kaitlyn; Amstutz, Ursula; Hildebrand, Claudette; Rassekh, S Rod; Hosking, Martin; Neville, Kathleen; Leeder, J Steven; Hayden, Michael R; Ross, Colin J; Carleton, Bruce C (2014). VKORC1 and CYP2C9 genotypes are predictors of warfarin-related outcomes in children. Pediatric blood & cancer, 61(6), pp. 1055-1062. Wiley-Liss 10.1002/pbc.24932

Schnarwiler, Felix; Niemann, Moritz; Doiron, Nicholas; Harsman, Anke Judith; Käser, Sandro; Mani, Jan; Chanfon, Astrid; Dewar, C. E.; Oeljeklaus, S.; Jackson, Christopher; Pusnik, M.; Schmidt, O.; Meisinger, C.; Hiller, S.; Warscheid, B.; Schnaufer, A. C.; Ochsenreiter, Torsten; Schneider, André (2014). Trypanosomal TAC40 constitutes a novel subclass of mitochondrial -barrel proteins specialized in mitochondrial genome inheritance. Proceedings of the National Academy of Sciences of the United States of America - PNAS, 111(21), pp. 7624-7629. National Academy of Sciences NAS 10.1073/pnas.1404854111

Lindner, Gregor; Funk, Georg-Christian; Pfortmüller, Carmen; Leichtle, Alexander B.; Fiedler, Georg M.; Schwarz, Christoph; Exadaktylos, Aristomenis K.; Puig, Stefan (2014). D-dimer to Rule Out Pulmonary Embolism in Renal Insufficiency. American journal of medicine, 127(4), pp. 343-347. Elsevier 10.1016/j.amjmed.2013.12.003

Schild, Christof; Hahn, Dagmar Karen; Schaller, André; Jackson, Christopher; Rothen-Rutishauser, Barbara; Mirkovitch, Jelena; Nuoffer, Jean-Marc (2014). Mitochondrial leucine tRNA level and PTCD1 are regulated in response to leucine starvation. Amino acids, 46(7), pp. 1775-1783. Springer 10.1007/s00726-014-1730-2

Aminkeng, F.; Ross, C. J. D.; Rassekh, S. R.; Brunham, L. R.; Sistonen, Johanna; Dube, M.-P.; Ibrahim, M.; Nyambo, T. B.; Omar, S. A.; Froment, A.; Bodo, J.-M.; Tishkoff, S.; Carleton, B. C.; Hayden, M. R. (2014). Higher frequency of genetic variants conferring increased risk for ADRs for commonly used drugs treating cancer, AIDS and tuberculosis in persons of African descent. Pharmacogenomics journal, 14(2), pp. 160-170. Nature Publishing Group 10.1038/tpj.2013.13

Dysli, Chantal-Simone; Quellec, Gwénolé; Abegg, Mathias; Menke, Marcel N; Wolf-Schnurrbusch, Ute; Kowal, Horst Jens; Blatz, Johannes; La Schiazza, Olivier; Leichtle, Alexander Benedikt; Wolf, Sebastian; Zinkernagel, Martin S (2014). Quantitative analysis of fluorescence lifetime measurements of the macula using the fluorescence lifetime imaging ophthalmoscope in healthy subjects. Investigative ophthalmology & visual science, 55(4), pp. 2106-2113. Association for Research in Vision and Ophthalmology 10.1167/iovs.13-13627

Amstutz, Ursula; Shear, Neil H; Rieder, Michael J; Hwang, Soomi; Fung, Vincent; Nakamura, Hidefumi; Connolly, Mary B; Ito, Shinya; Carleton, Bruce C (2014). Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions. Epilepsia, 55(4), pp. 496-506. Wiley-Blackwell 10.1111/epi.12564

Pfortmüller, Carmen; Wiemann, Christoph; Funk, Georg-Christian; Leichtle, Alexander Benedikt; Fiedler, Martin; Exadaktylos, Aristomenis; Lindner, Gregor (2014). Hypoglycemia is associated with increased mortality in patients with acute decompensated liver cirrhosis. Journal of critical care, 29(2), 316.e7-316.e12. Elsevier 10.1016/j.jcrc.2013.11.002

Al-Haggar, Mohammad; Largiadèr, Carlo Rodolfo; Abdel-Hady, Dina; Barakat, Tarik; Nuoffer, Jean-Marc; Al-Refaei, Abdel-Aziz (2014). Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier. International journal of gynaecology and obstetrics, 124(2), pp. 174-175. Elsevier 10.1016/j.ijgo.2013.09.014

Balmer, Cécile; Pandey, Amit Vikram; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Fang, Ping; Wong, Lee-Jun; Häberle, Johannes (2014). Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. Human mutation, 35(1), pp. 27-35. Wiley-Blackwell 10.1002/humu.22469

Pfortmüller, Carmen; Lindner, Gregor; Leichtle, Alexander Benedikt; Fiedler, Martin; Exadaktylos, Aristomenis (2014). Diagnostic significance of high sensitivity troponin in diagnosis of blunt cardiac injury. Intensive care medicine, 40(4), pp. 623-624. Springer 10.1007/s00134-013-3204-5

Pfortmüller, Carmen A.; Funk, Georg-Christian; Leichtle, Alexander Benedikt; Fiedler, Martin; Schwarz, Christoph; Exadaktylos, Aristomenis; Lindner, Gregor (2014). Electrolyte disorders and in-hospital mortality during prolonged heat periods: a cross-sectional analysis. PLoS ONE, 9(3), e92150. Public Library of Science 10.1371/journal.pone.0092150

Gautschi, Matthias; Eggimann, Sandra; Nuoffer, Jean-Marc (2014). Current role of enzyme analysis for urea cycle disorders. Journal of Pediatric Biochemistry, 4(1), pp. 23-32. IOS Press 10.3233/JPB-140103

Pers, Sabrina; Gautschi, Matthias; Nuoffer, Jean-Marc; Schwarz, Hans Peter; Christ, Emanuel (2014). Integration of adult patients with phenylketonuria into professional life: long-term follow-up of 27 patients in a single centre in Switzerland. Swiss medical weekly, 144, w14074. EMH Schweizerischer Ärzteverlag 10.4414/smw.2014.14074

Lindner, Gregor; Pfortmüller, Carmen; Leichtle, Alexander Benedikt; Fiedler, Martin; Exadaktylos, Aristomenis (2014). Age-related variety in electrolyte levels and prevalence of dysnatremias and dyskalemias in patients presenting to the emergency department. Gerontology, 60(5), pp. 420-423. Karger 10.1159/000360134

Fiedler, Martin (2014). Herz. In: Renz, Harald (ed.) Praktische Labordiagnostik. Lehrbuch zur Laboratoriumsmedizin, klinischen Chemie und Hämatologie. De Gruyter Studium (pp. 75-86). Berlin: de Gruyter

2013

Jackson, Christopher; Nuoffer, Jean-Marc; Hahn, Dagmar Karen; Prokisch, Holger; Haberberger, Birgit; Gautschi, Matthias; Haeberli, Annemarie; Gallati, Sabina; Schaller, André (2013). Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. Journal of medical genetics, 51(3), pp. 170-175. BMJ Publishing Group 10.1136/jmedgenet-2013-101932

Mai, Manuel; Tönjes, Anke; Kovacs, Peter; Stumvoll, Michael; Fiedler, Georg Martin; Leichtle, Alexander Benedikt (2013). Serum Levels of Acylcarnitines Are Altered in Prediabetic Conditions. PLoS ONE, 8(12), e82459. Public Library of Science 10.1371/journal.pone.0082459

Pfortmueller, Carmen A.; Funk, Georg-Christian; Marti, Grischa; Leichtle, Alexander B.; Fiedler, Georg M.; Schwarz, Christoph; Exadaktylos, Aristomenis K.; Lindner, Gregor (2013). Diagnostic performance of high-sensitive troponin T in patients with renal insufficiency. American journal of cardiology, 112(12), pp. 1968-1972. Elsevier 10.1016/j.amjcard.2013.08.028

Hu, Liyan; Pandey, Amit Vikram; Eggimann, Sandra; Rüfenacht, Véronique; Möslinger, Dorothea; Nuoffer, Jean-Marc; Häberle, Johannes (2013). Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. Journal of biological chemistry, 288(48), pp. 34599-611. American Society for Biochemistry and Molecular Biology 10.1074/jbc.M113.503128

Yun, J,; Mattsson, J,; Schnyder, K,; Fontana, S,; Largiadèr, C, R,; Pichler, W, J,; Yerly, D, (2013). Allopurinol hypersensitivity is primarily mediated by dose-dependent oxypurinol-specific T cell response. Clinical and experimental allergy, 43(11), pp. 1246-1255. Blackwell Scientific Publications 10.1111/cea.12184

Jones, Simon A.; Parini, Rossella; Harmatz, Paul; Giugliani, Roberto; Fang, Juanzhi; Mendelsohn, Nancy J.; on behalf of the HOS Investigators, The HOS Natural History Working Group; Gautschi, Matthias (2013). The effect of idursulfase on growth in patients with Hunter syndrome: data from the Hunter Outcome Survey (HOS). Molecular genetics and metabolism, 109(1), pp. 41-48. Elsevier 10.1016/j.ymgme.2013.03.001

Madadi, Parvaz; Sistonen, Johanna; Silverman, Gregory; Gladdy, Rebecca; Ross, Colin J.; Carleton, Bruce C.; Carvalho, Jose C.; Hayden, Michael R.; Koren, Gideon (2013). Life-threatening adverse events following therapeutic opioid administration in adults: Is pharmacogenetic analysis useful? Pain research and management, 18(3), pp. 133-136. Pulsus Group Inc.

Oexle, Konrad; Schormair, Barbara; Ried, Janina S.; Czamara, Darina; Heim, Katharina; Frauscher, Birgit; Högl, Birgit; Trenkwalder, Claudia; Fiedler, G. Martin; Thiery, Joachim; Lichtner, Peter; Prokisch, Holger; Specht, Michael; Müller-Myhsok, Bertram; Döring, Angela; Gieger, Christian; Peters, Annette; Wichmann, H.-Erich; Meitinger, Thomas and Winkelmann, Juliane (2013). Dilution of candidates: the case of iron-related genes in restless legs syndrome. European journal of human genetics, 21(4), pp. 410-414. Nature Publishing Group 10.1038/ejhg.2012.193

Büchel, Barbara; Rhyn, Peter; Schürch, Stefan; Bühr, Claudia; Amstutz, Ursula; R Largiadèr, Carlo (2013). LC-MS/MS method for simultaneous analysis of uracil, 5,6-dihydrouracil, 5-fluorouracil and 5-fluoro-5,6-dihydrouracil in human plasma for therapeutic drug monitoring and toxicity prediction in cancer patients. Biomedical chromatography, 27(1), pp. 7-16. Chichester: Wiley 10.1002/bmc.2741

Goeggel, Barbara; Ritter, Barbara; Gautschi, Matthias; Wehrli, Edith; Boltshauser, Eugen; Schmitt-Mechelke, Thomas; Weber, Peter; Weissert, Markus; El-Koussy, Marwan; Steinlin, Maja (2013). Basilar artery stroke in childhood. Developmental medicine and child neurology, 55(1), pp. 65-70. Oxford: Blackwell 10.1111/dmcn.12015

Lindner, Gregor; Felber, Rainer; Schwarz, Christoph; Marti, Grischa; Leichtle, Alexander Benedikt; Fiedler, Martin; Zimmermann, Heinz; Arampatzis, Spyridon; Exadaktylos, Aristomenis Konstantinos (2013). Hypercalcemia in the ED: prevalence, etiology, and outcome. American journal of emergency medicine, 31(4), pp. 657-60. Philadelphia, Pa.: W.B. Saunders 10.1016/j.ajem.2012.11.010

De Marchis, Gian Marco; Katan, Mira; Weck, Anja; Fluri, Felix; Foerch, Christian; Findling, Oliver; Schuetz, Philipp; Buhl, Daniela; El-Koussy, Marwan; Gensicke, Henrik; Seiler, Marlen; Morgenthaler, Nils; Mattle, Heinrich P; Mueller, Beat; Christ-Crain, Mirjam; Arnold, Marcel (2013). Copeptin adds prognostic information after ischemic stroke: Results from the CoRisk study. Neurology, 80(14), pp. 1278-86. Hagerstown, Md.: Lippincott Williams & Wilkins 10.1212/WNL.0b013e3182887944

Mueller, F; Büchel, B; Köberle, D; Schürch, Stefan; Pfister, B; Krähenbühl, St; Fröhlich, Tanja; Largiader, C R; Joerger, M (2013). Gender-specific elimination of continuous-infusional 5-fluorouracil in patients with gastrointestinal malignancies: results from a prospective population pharmacokinetic study. Cancer chemotherapy and pharmacology, 71(2), pp. 361-70. Berlin: Springer 10.1007/s00280-012-2018-4

Euteneuer, Sara; Yang, Kuo H; Chavez, Eduardo; Leichtle, Anke; Loers, Gabriele; Olshansky, Adel; Pak, Kwang; Schachner, Melitta; Ryan, Allen F (2013). Glial cell line-derived neurotrophic factor (GDNF) induces neuritogenesis in the cochlear spiral ganglion via neural cell adhesion molecule (NCAM). Molecular and cellular neuroscience, 54, pp. 30-43. San Diego, Calif.: Elsevier 10.1016/j.mcn.2012.12.004

Rüegger, Corinne M; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M; Grünert, Sarah C; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H; Lotz-Havla, Amelie; Möslinger, Dorothea; Nuoffer, Jean-Marc; Plecko, Barbara; Rutsch, Frank; ... (2013). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of inherited metabolic disease, 37(1), pp. 21-30. Lancaster, UK: Springer

Nota, Benjamin; Struys, Eduard A; Pop, Ana; Jansen, Erwin E; Fernandez Ojeda, Matilde R; Kanhai, Warsha A; Kranendijk, Martijn; van Dooren, Silvy J M; Bevova, Marianna R; Sistermans, Erik A; Nieuwint, Aggie W M; Barth, Magalie; Ben-Omran, Tawfeg; Hoffmann, Georg F; de Lonlay, Pascale; McDonald, Marie T; Meberg, Alf; Muntau, Ania C; Nuoffer, Jean-Marc; Parini, Rossella; ... (2013). Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. American journal of human genetics, 92(4), pp. 627-31. New York, N.Y.: Cell Press 10.1016/j.ajhg.2013.03.009

Leichtle, Alexander Benedikt; Ceglarek, U; Weinert, P; Nakas, C T; Nuoffer, Jean-Marc; Kase, J; Conrad, T; Witzigmann, H; Thiery, J; Fiedler, Martin (2013). Pancreatic carcinoma, pancreatitis, and healthy controls: metabolite models in a three-class diagnostic dilemma. Metabolomics, 9(3), pp. 677-687. New York, N.Y.: Springer US; http://www.springer-ny.com 10.1007/s11306-012-0476-7

Marti, Grischa; Schwarz, Christoph; Leichtle, Alexander Benedikt; Fiedler, Martin; Arampatzis, Spyridon; Exadaktylos, Aristomenis; Lindner, Gregor (2013). Etiology and symptoms of severe hypokalemia in emergency department patients. European journal of emergency medicine, 21(1), pp. 46-51. London: Lippincott Williams & Wilkins

Arampatzis, Spyridon; Funk, Georg-Christian; Leichtle, Alexander Benedikt; Fiedler, Martin; Schwarz, Christoph; Zimmermann, Heinz; Exadaktylos, Aristomenis; Lindner, Gregor (2013). Impact of diuretic therapy-associated electrolyte disorders present on admission to the emergency department: a cross-sectional analysis. BMC medicine, 11, p. 83. London: BioMed Central 10.1186/1741-7015-11-83

Blum, Manuel R.; Collet, Tinh-Hai; Krebs, Danielle; Stettler, Christoph; Christ, Emanuel; Virgini, Vanessa; Sykiotis, Gerasimos; Frey, Peter; Reichenbach, Stephan; Boulat, Olivier; Mooser, Vincent; Jüni, Peter; Fiedler, Martin; Aujesky, Drahomir; Pitteloud, Nelly; Rodondi, Nicolas (2013). Subklinische Hypothyreose: Risiken, aktuelle Empfehlungen und randomisierte Studie in der Schweiz. Schweizerisches Medizin-Forum SMF / Swiss medical forum / Forum médical suisse FMS, 13(39), pp. 772-775. EMH Editores Medicorum Helveticorum

Lindner, Gregor; Pfortmüller, Carmen; Funk, Georg-Christian; Leichtle, Alexander Benedikt; Fiedler, Martin; Exadaktylos, Aristomenis (2013). High-Sensitive Troponin Measurement in Emergency Department Patients Presenting with Syncope: A Retrospective Analysis. PLoS ONE, 8(6), e66470. Public Library of Science 10.1371/journal.pone.0066470

Büchel, Barbara; Sistonen, Johanna; Joerger, Markus; Aebi, Yolanda; Schürch, Stefan; Largiadèr, Carlo Rodolfo (2013). Comparative evaluation of the My5-FU™ immunoassay and LC-MS/MS in monitoring the 5-fluorouracil plasma levels in cancer patients. Clinical chemistry and laboratory medicine, 51(8), pp. 1681-1688. De Gruyter 10.1515/cclm-2012-0641

Leichtle, Alexander Benedikt; Dufour, Jean-François; Fiedler, Martin (2013). Potentials and pitfalls of clinical peptidomics and metabolomics. Swiss medical weekly, 143, w13801. EMH Schweizerischer Ärzteverlag 10.4414/smw.2013.13801

Fiedler, Georg Martin (2013). In vitro and In vivo Hemolysis/Endogenous Interferences in Clinical Laboratory Tests. Laboratoriumsmedizin, 37(5), pp. 287-288. De Gruyter 10.1515/labmed-2013-0051

2012

Blüher, Matthias; Rudich, Assaf; Klöting, Nora; Golan, Rachel; Henkin, Yaakov; Rubin, Eitan; Schwarzfuchs, Dan; Gepner, Yftach; Stampfer, Meir J; Fiedler, Martin; Thiery, Joachim; Stumvoll, Michael; Shai, Iris (2012). Two patterns of adipokine and other biomarker dynamics in a long-term weight loss intervention. Diabetes care, 35(2), pp. 342-9. Alexandria, Va.: American Diabetes Association 10.2337/dc11-1267

Bruegel, Mathias; Ludwig, Ute; Kleinhempel, Alisa; Petros, Sirak; Kortz, Linda; Ceglarek, Uta; Holdt, Lesca Miriam; Thiery, Joachim; Fiedler, Georg Martin (2012). Sepsis-associated changes of the arachidonic acid metabolism and their diagnostic potential in septic patients*. Critical care medicine, 40(5), pp. 1478-86. Baltimore, Md.: Lippincott Williams & Wilkins 10.1097/CCM.0b013e3182416f05

Vonlanthen, Pascal; Bittner, David; Hudson, Alan G; Young, Kyle A; Müller, Ruedi; Lundsgaard-Hansen, Bänz; Roy, Denis; di Piazza, Sacha; Largiadèr, Carlo Rodolfo; Seehausen, Ole (2012). Eutrophication causes speciation reversal in whitefish adaptive radiations. Nature, 482(7385), pp. 357-362. London: Macmillan Journals Ltd. 10.1038/nature10824

Hirsch, Andrea; Hahn, Dagmar; Kempná, Petra; Hofer, Gaby; Mullis, Primus E; Nuoffer, Jean-Marc; Flück, Christa E (2012). Role of AMP-activated protein kinase on steroid hormone biosynthesis in adrenal NCI-H295R cells. PLoS ONE, 7(1), e30956. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0030956

Engel, Katharina; Vuissoz, Jean-Marc; Eggimann, Sandra; Groux, Murielle; Berning, Christoph; Hu, Liyan; Klaus, Vera; Moeslinger, Dorothea; Mercimek-Mahmutoglu, Saadet; Stöckler, Sylvia; Wermuth, Bendicht; Häberle, Johannes; Nuoffer, Jean-Marc (2012). Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. Journal of inherited metabolic disease, 35(1), pp. 133-40. Lancaster, UK: Springer Netherlands 10.1007/s10545-011-9357-x

Prondzinsky, Roland; Unverzagt, Susanne; Lemm, Henning; Wegener, Nikolas-Arne; Schlitt, Axel; Heinroth, Konstantin M; Dietz, Sebastian; Buerke, Ute; Kellner, Patrick; Loppnow, Harald; Fiedler, Martin G; Thiery, Joachim; Werdan, Karl; Buerke, Michael (2012). Interleukin-6, -7, -8 and -10 predict outcome in acute myocardial infarction complicated by cardiogenic shock. Clinical research in cardiology, 101(5), pp. 375-84. Heidelberg: Springer-Medizin-Verlag 10.1007/s00392-011-0403-3

Leichtle, Alexander Benedikt; Nuoffer, Jean-Marc; Ceglarek, Uta; Kase, Julia; Conrad, Tim; Witzigmann, Helmut; Thiery, Joachim; Fiedler, Georg Martin (2012). Serum amino acid profiles and their alterations in colorectal cancer. Metabolomics, 8(4), pp. 643-653. New York, N.Y.: Springer US; http://www.springer-ny.com 10.1007/s11306-011-0357-5

Fiedler, Georg Martin (2012). Applications of LC-MS/MS in Clinical Laboratory Diagnostics. In: , (ed.) Analytical Techniques for Clinical Chemistry (pp. 507-528). Chichester: John Wiley & Sons

Schwarz, Christoph; Leichtle, Alexander Benedikt; Arampatzis, Spiros; Fiedler, Georg Martin; Zimmermann, Heinz; Exadaktylos, Aristomenis Konstantinos; Lindner, Gregor (2012). Thyroid function and serum electrolytes: does an association really exist? Swiss medical weekly, 142, w13669. Muttenz: EMH Schweizerischer Ärzteverlag 10.4414/smw.2012.13669

Arampatzis, Spyridon; Frauchiger, Bettina; Fiedler, Georg-Martin; Leichtle, Alexander Benedikt; Buhl, Daniela; Schwarz, Christoph; Funk, Georg-Christian; Zimmermann, Heinz; Exadaktylos, Aristomenis K; Lindner, Gregor (2012). Characteristics, symptoms, and outcome of severe dysnatremias present on hospital admission. American journal of medicine, 125(11), 1125.e1-1125.e7. Orlando, Fla.: Elsevier 10.1016/j.amjmed.2012.04.041

Martin, Juliette; Maurhofer, Olivier; Bellance, Nadège; Benard, Giovanni; Graber, Franziska; Hahn, Dagmar Karen; Galinier, Anne; Hora, Caroline; Gupta, Anirudh; Ferrand, Gisèle; Hoppeler, Hans; Rossignol, Rodrigue; Dufour, Jean-François; St-Pierre, Marie V (2012). Disruption of the histidine triad nucleotide-binding hint2 gene in mice affects glycemic control and mitochondrial function. Hepatology, 57(5), pp. 2037-2048. Hoboken, N.J.: Wiley Interscience 10.1002/hep.26060

Hirsch, Andrea; Hahn, Dagmar; Kempná, Petra; Hofer, Gaby; Nuoffer, Jean-Marc; Mullis, Primus E; Flück, Christa E (2012). Metformin inhibits human androgen production by regulating steroidogenic enzymes HSD3B2 and CYP17A1 and complex I activity of the respiratory chain. Endocrinology, 153(9), pp. 4354-66. Chevy Chase, Md.: Endocrine Society 10.1210/en.2012-1145

Sistonen, Johanna; Smith, Chingying; Fu, Yung-Kang; Largiadèr, Carlo R (2012). A new DPYD genotyping assay for improving the safety of 5-fluorouracil therapy. Clinica chimica acta, 414, pp. 109-111. Amsterdam: Elsevier 10.1016/j.cca.2012.08.015

Wilhelm, M; Zueger, T; De Marchi, S; Rimoldi, S F; Brugger, N; Steiner, R; Stettler, C; Nuoffer, J-M; Seiler, C; Ith, M (2012). Inflammation and atrial remodeling after a mountain marathon. Scandinavian journal of medicine & science in sports, 24(3), pp. 519-525. Oxford: Wiley-Blackwell 10.1111/sms.12030

Khetani, Justin D; Madadi, Parvaz; Sommer, Doron D; Reddy, Desigen; Sistonen, Johanna; Ross, Colin J D; Carleton, Bruce C; Hayden, Michael R; Koren, Gideon (2012). Apnea and oxygen desaturations in children treated with opioids after adenotonsillectomy for obstructive sleep apnea syndrome: a prospective pilot study. Pediatric drugs, 14(6), pp. 411-5. Heidelberg: Springer 10.2165/11633570-000000000-00000

Sistonen, J; Madadi, P; Ross, C J; Yazdanpanah, M; Lee, J W; Landsmeer, M L A; Nauta, M; Carleton, B C; Koren, G; Hayden, M R (2012). Prediction of codeine toxicity in infants and their mothers using a novel combination of maternal genetic markers. Clinical pharmacology & therapeutics, 91(4), pp. 692-9. New York, N.Y.: Nature Publishing Group 10.1038/clpt.2011.280

Gautschi, Matthias; Pavlovic, Mladen; Nuoffer, Jean-Marc (2012). Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia. In: , (ed.) JIMD Reports - Case and Research Reports, 2011/2. JIMD Reports: Vol. 2 (pp. 45-50). Berlin: Springer 10.1007/8904_2011_45

Rentsch, Katharina; Buhl, Daniela; Eap, Chin Bin; Fathi, Marc; Jöchle, Wolfgang; Magnin, Jean-Luc; Thormann, Wolfgang; Werner, Dominique (2012). Erratum: Monographs on drugs which are frequently analyzed in therapeutic drug monitoring. LaboratoriumsMedizin / Journal of laboratory medicine, 36(2), p. 121. Walter de Gruyter 10.1515/labmed-2012-0002

2011

Maalouf, Naim M; Adams-Huet, Beverley; Pasch, Andreas; Lieske, John C; Asplin, John R; Siener, Roswitha; Hesse, Albrecht; Nuoffer, Jean-Marc; Frey, Felix J; Knight, John; Holmes, Ross P; Zerwekh, Joseph E; Bonny, Olivier (2011). Variability in urinary oxalate measurements between six international laboratories. Nephrology, dialysis, transplantation, 26(12), pp. 3954-9. Oxford: Oxford University Press 10.1093/ndt/gfr147

Amstutz, Ursula; Andrey-Zürcher, Gisela; Suciu, Dominic; Jaggi, Rolf; Häberle, Johannes; Largiadèr, Carlo R (2011). Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders. Clinical chemistry, 57(1), pp. 102-11. Washington, D.C.: American Association for Clinical Chemistry 10.1373/clinchem.2010.150706

Leichtle, Alexander B; Helmschrodt, Christin; Ceglarek, Uta; Shai, Iris; Henkin, Yaakov; Schwarzfuchs, Dan; Golan, Rachel; Gepner, Yftach; Stampfer, Meir J; Blüher, Matthias; Stumvoll, Michael; Thiery, Joachim; Fiedler, Georg M (2011). Effects of a 2-y dietary weight-loss intervention on cholesterol metabolism in moderately obese men. American journal of clinical nutrition, 94(5), pp. 1189-95. Bethesda, Md.: American Society for Nutrition, Inc. 10.3945/ajcn.111.018119

Golan, Rachel; Tirosh, Amir; Schwarzfuchs, Dan; Harman-Boehm, Ilana; Thiery, Joachim; Fiedler, Georg Martin; Blüher, Matthias; Stumvoll, Michael; Shai, Iris; DIRECT Group, (2011). Dietary intervention induces flow of changes within biomarkers of lipids, inflammation, liver enzymes, and glycemic control. Nutrition, 28(2), pp. 131-7. New York, N.Y.: Elsevier 10.1016/j.nut.2011.04.001

Oexle, Konrad; Ried, Janina S; Hicks, Andrew A; Tanaka, Toshiko; Hayward, Caroline; Bruegel, Mathias; Gögele, Martin; Lichtner, Peter; Müller-Myhsok, Bertram; Döring, Angela; Illig, Thomas; Schwienbacher, Christine; Minelli, Cosetta; Pichler, Irene; Fiedler, G Martin; Thiery, Joachim; Rudan, Igor; Wright, Alan F; Campbell, Harry; Ferrucci, Luigi; ... (2011). Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. Human molecular genetics, 20(5), pp. 1042-7. Oxford: Oxford University Press 10.1093/hmg/ddq538

Erez, G; Tirosh, A; Rudich, A; Meiner, V; Schwarzfuchs, D; Sharon, N; Shpitzen, S; Blüher, M; Stumvoll, M; Thiery, J; Fiedler, G M; Friedlander, Y; Leiterstdorf, E; Shai, I (2011). Phenotypic and genetic variation in leptin as determinants of weight regain. International journal of obesity, 35(6), pp. 785-92. Avenel, N.J.: Nature Publishing Group 10.1038/ijo.2010.217

Schumann, Julia; Leichtle, Alexander; Thiery, Joachim; Fuhrmann, Herbert (2011). Fatty acid and peptide profiles in plasma membrane and membrane rafts of PUFA supplemented RAW264.7 macrophages. PLoS ONE, 6(8), e24066. Lawrence, Kans.: Public Library of Science 10.1371/journal.pone.0024066

Amstutz, Ursula; Froehlich, Tanja K; Largiadèr, Carlo R (2011). Dihydropyrimidine dehydrogenase gene as a major predictor of severe 5-fluorouracil toxicity. Pharmacogenomics, 12(9), pp. 1321-36. London: Future Medicine 10.2217/PGS.11.72

Kuhn-Nentwig, Lucia; Largiadèr, Carlo R; Streitberger, Kathrin; Chandru, Sathyan; Baumann, Tommy; Kämpfer, Urs; Schaller, Johann; Schürch, Stefan; Nentwig, Wolfgang (2011). Purification, cDNA structure and biological significance of a single insulin-like growth factor-binding domain protein (SIBD-1) identified in the hemocytes of the spider Cupiennius salei. Insect biochemistry and molecular biology, 41(11), pp. 891-901. Amsterdam: Elsevier 10.1016/j.ibmb.2011.08.003

van Kuilenburg, André B P; Largiadèr, Carlo R (2011). SNPs and Haplotypes in DPYD and Outcome of Capecitabine-Letter. Clinical cancer research, 17(17), 5837; author reply 5835-6. Philadelphia, Pa.: American Association for Cancer Research 10.1158/1078-0432.CCR-11-1258

Bittner, David; Cossins, Andrew R; Segner, Helmut; Excoffier, Laurent; Largiadèr, Carlo R (2011). Identification of candidate genes and physiological pathways involved in gonad deformation in whitefish (Coregonus spp.) from Lake Thun, Switzerland. International journal of environmental research and public health, 8(7), pp. 2706-33. Basel: Molecular Diversity Preservation International MDPI 10.3390/ijerph8072706

Schnüriger, Beat; Beat, Schnüriger; Exadaktylos, E; Aristomenis, Exadaktylos; Sauter, Thomas; Thomas, Sauter; Buhl, Daniela; Daniela, Buhl; Zimmermann, Heinz; Heinz, Zimmermann (2011). Highly sensitive cardiac troponin in blunt chest trauma: after the gathering comes the scattering? Journal of trauma - injury, infection, and critical care, 70(3), pp. 766-7. Baltimore, Md.: Lippincott, Williams, & Wilkins 10.1097/TA.0b013e31820b8b81

Schaller, André; Hahn, Dagmar; Jackson, Christopher B; Kern, Ilse; Chardot, Christophe; Belli, Dominique C; Gallati, Sabina; Nuoffer, Jean-Marc (2011). Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. BMC neurology, 11, p. 4. London: BioMed Central 10.1186/1471-2377-11-4

Schlapbach, Luregn J.; Frey, Stefanie; Bigler, Susanna; Manh-Nhi, Chiem; Aebi, Christoph; Nelle, Mathias; Nuoffer, Jean-Marc (2011). Copeptin concentration in cord blood in infants with early-onset sepsis, chorioamnionitis and perinatal asphyxia. BMC pediatrics, 11, p. 38. London: BioMed Central 10.1186/1471-2431-11-38

Schild, Christof; Egger, Florence; Kaelin-Lang, Alain; Nuoffer, Jean-Marc (2011). Monoclonal gammopathy missed by capillary zone electrophoresis. Clinical chemistry and laboratory medicine, 49(7), pp. 1217-9. Berlin: Walter de Gruyter 10.1515/CCLM.2011.189

Nebe, Thoms; Bentzien, Frank; Bruegel, Mathias; Fiedler, Georg Martin; Gutensohn, Kai; Heimpel, Hermann; Krebs, Nicole; Ossendorf, Manfred; Schuff-Werner, Peter; Stamminger, Gudrun; Baum, Hansjörg (2011). Multicentric Determination of Reference Ranges for Automated Blood Counts. LaboratoriumsMedizin / Journal of laboratory medicine, 35(1), pp. 3-28. Berlin: De Gruyter 10.1515/JLM.2011.004

Brauer, Romy; Leichtle, Alexander Benedikt; Fiedler, Georg Martin; Thiery, Joachim; Ceglarek, Uta (2011). Preanalytical standardization of amino acid and acylcarnitine metabolite profiling in human blood using tandem mass spectrometry. Metabolomics, 7(3), pp. 344-352. New York, N.Y.: Springer 10.1007/s11306-010-0256-1

Caudron, Arnaud; Champigneulle, Alexis; Guyomard, René; Largiadèr, Carlo (2011). Assessment of three strategies practiced by fishery managers for restoring native brown trout (Salmo trutta) populations in Northern French Alpine Streams. Ecology of freshwater fish, 20(3), pp. 478-491. Copenhagen: Munksgaard 10.1111/j.1600-0633.2010.00458.x

Becquemont, Ana; Amstutz, Ursula; Brauch, Hiltrud; Jacqz-Aigrain, Evelyne; Laurent-Puig, Pierre; A Molina, Miguel; Niemi, Mikko; Schwab, Matthias; A Somogyi, Andrew; Thervet, Eric; Maitland-van der Zee, Anke-Hilse; van Kuilenburg, André; van Schalk, Ron; Verstuyft, Céline; Wadelius, Mia; K Daly, Ann (2011). Practical recommendations for pharmacogenomics - based prescription: 2010 ESF-UB Conference on Pharmacogenetics and Pharmacogenomics. Pharmacogenomics, 12(1), pp. 113-124. London: Future Medicine 10.2217/pgs.10.147

Schaller, A; Desetty, R; Hahn, D; Jackson, C B; Nuoffer, J-M; Gallati, S; Levinger, L (2011). Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. Mitochondrion, 11(3), pp. 488-96. Amsterdam: Elsevier 10.1016/j.mito.2011.01.005

2010

Kempná, Petra; Körner, Meike; Waser, Beatrice; Hofer, Gaby; Nuoffer, Jean-Marc; Reubi, Jean-Claude; Flück, Christa E. (2010). Neuropeptide Y modulates steroid production of human adrenal H295R cells through Y1 receptors. Molecular and cellular endocrinology, 314(1), pp. 101-109. Shannon: Elsevier Ireland 10.1016/j.mce.2009.08.010

Gessler, Peter; Buchal, Peter; Schwenk, Hans U; Wermuth, Bendicht (2010). Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. European journal of pediatrics, 169(2), pp. 197-9. Berlin: Springer 10.1007/s00431-009-1006-0

Ben-Ari, Ziv; Dalal, Adam; Morry, Ady; Pitlik, Silvio; Zinger, Pierre; Cohen, Jonathan; Fattal, Ittai; Galili-Mosberg, Ronit; Tessler, Debora; Baruch, Ruth Gershoni; Nuoffer, Jean-Marc; Largiader, Carlo R; Mandel, Hanna (2010). Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet. Journal of hepatology, 52(2), pp. 292-5. Amsterdam: Elsevier 10.1016/j.jhep.2009.11.014

Ballhausen, Diana; Guerry, Frédéric; Hahn, Dagmar; Schaller, André; Nuoffer, Jean-Marc; Bonafé, Luisa; Jeannet, Pierre-Yves; Jacquemont, Sebastien (2010). Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study. Journal of inherited metabolic disease, 33 Suppl 3, S219-S226. Lancaster, UK: Springer

Beyeler, Michael; Schild, Christof; Lutz, Roman; Chiquet, Matthias; Trueb, Beat (2010). Identification of a fibronectin interaction site in the extracellular matrix protein ameloblastin. Experimental cell research, 316(7), pp. 1202-12. San Diego, Calif.: Elsevier 10.1016/j.yexcr.2009.12.019

Blau, Nenad; Bélanger-Quintana, Amaya; Demirkol, Mübeccel; Feillet, François; Giovannini, Marcello; MacDonald, Anita; Trefz, Friedrich K; van Spronsen, Francjan; Nuoffer, JM; European PKU centers, (2010). Management of phenylketonuria in Europe: survey results from 19 countries. Molecular genetics and metabolism, 99(2), pp. 109-15. Amsterdam: Elsevier 10.1016/j.ymgme.2009.09.005

Bittner, D; Excoffier, L; Largiadèr, C R (2010). Patterns of morphological changes and hybridization between sympatric whitefish morphs (Coregonus spp.) in a Swiss lake: a role for eutrophication? Molecular Ecology, 19(10), pp. 2152-67. Oxford: Wiley-Blackwell 10.1111/j.1365-294X.2010.04623.x

Baumann, Tommy; Kämpfer, Urs; Schürch, Stefan; Schaller, Johann; Largiadèr, Carlo; Nentwig, Wolfgang; Kuhn-Nentwig, Lucia (2010). Ctenidins: antimicrobial glycine-rich peptides from the hemocytes of the spider Cupiennius salei. Cellular and molecular life sciences, 67(16), pp. 2787-2798. Basel: SP Birkhäuser Verlag Basel 10.1007/s00018-010-0364-0

Baumann, Tommy; Kuhn-Nentwig, Lucia; Largiadèr, Carlo R; Nentwig, Wolfgang (2010). Expression of defensins in non-infected araneomorph spiders. Cellular and molecular life sciences, 67(15), pp. 2643-51. Basel: SP Birkhäuser Verlag Basel 10.1007/s00018-010-0354-2

Numata, S; Koda, Y; Ihara, K; Sawada, T; Okano, Y; Matsuura, T; Endo, F; Yoo, HW; Arranz, JA; Rubio, V; Wermuth, B; Mew, NA; Tuchman, M; Pinner, JR; Kirk, EP; Yoshino, M (2010). Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations. Journal of human genetics, 55(1), pp. 18-22. Avenel, N.J.: Nature Publishing Group 10.1038/jhg.2009.113

Wallemacq, P; Maine, GT; Berg, K; Rosiere, T; Marquet, P; Aimo, G; Mengozzi, G; Young, J; Wonigeit, K; Kretschmer, R; Wermuth, B; Schmid, RW (2010). Multisite analytical evaluation of the Abbott ARCHITECT cyclosporine assay. Therapeutic drug monitoring, 32(2), pp. 145-151. Hagerstown, Md.: Lippincott Williams & Wilkins 10.1097/FTD.0b013e3181d46386

2009

Vonlanthen, Pascal; Roy, Denis; Hudson, Alan; Largiadèr, Carlo Rodolfo; Bittner, David; Seehausen, Ole (2009). Divergence along a steep ecological gradient in lake whitefish (Coregonus sp.). Journal of Evolutionary Biology, 22(3), pp. 498-514. Basel: Wiley 10.1111/j.1420-9101.2008.01670.x

Schild, Christof; Beyeler, Michael; Lang, Niklaus P; Trueb, Beat (2009). Cementum attachment protein/protein-tyrosine phosphotase-like member A is not expressed in teeth. International journal of molecular medicine, 23(2), pp. 293-6. Athens: Spandidos Publications 10.3892/ijmm_00000130

Simonetti, Giacomo D; Casaulta, Carmen; Vuissoz, Jean-Marc; Bianchetti, Mario G; Nuoffer, Jean-Marc (2009). Recurrent unexplained episodes of facial cyanosis and shortness of breath in Hunter disease. Journal of pediatrics, 155(1), 144, 144.e1. New York, N.Y.: Elsevier 10.1016/j.jpeds.2009.01.037

Kreis, R; Zwygart, K; Boesch, C; Nuoffer, J-M (2009). Reproducibility of cerebral phenylalanine levels in patients with phenylketonuria determined by 1H-MR spectroscopy. Magnetic resonance in medicine, 62(1), pp. 11-6. New York, N.Y.: Wiley-Liss 10.1002/mrm.21983

Horn, MP; Mäder-Heinemann, G; Andrey, G; Largiadèr, CR (2009). Mutation screening of the medium-chain acyl-CoA dehydrogenase (MCAD) and the ornithine transcarbamylase (OTC) genes by multiplex PCR amplification and sequencing. Clinical chemistry and laboratory medicine, 47(1), pp. 56-9. Berlin: Walter de Gruyter 10.1515/CCLM.2009.012

Bittner, D; Bernet, D; Wahli, Thomas; Segner, Helmut; Kueng, C; Largiadèr, Carlo R. (2009). How normal is abnormal? - Discriminating between deformations and natural variation in gonad morphology of European whitefish Coregonus lavaretus. Journal of fish biology, 74(7), pp. 1594-1614. Oxford: Blackwell 10.1111/j.1095-8649.2009.02233.x

Amstutz, U; Farese, S; Aebi, S; Largiadèr, CR (2009). Dihydropyrimidine dehydrogenase gene variation and severe 5-fluorouracil toxicity: A haplotype assessment. Pharmacogenomics, 10(6), pp. 931-944. London: Future Medicine 10.2217/PGS.09.28

Benninger, David H; Herrmann, François R; Georgiadis, Dimitri; Kretschmer, Robert; Sarikaya, Hakan; Schiller, Andreas; Baumgartner, Ralf W (2009). Increased prevalence of hyperhomocysteinemia in cervical artery dissection causing stroke: a case-control study. Cerebrovascular diseases, 27(3), pp. 241-6. Basel: Karger 10.1159/000196822

Ketmaier, V; Finamore, F; Largiadèr, CR; Milone, M; Bianco, PG (2009). Phylogeography of bleaks (genus Alburnus, Cyprinidae) in Italy based on cytochrome b data. Journal of fish biology, 75(5), pp. 997-1017. Oxford: Blackwell 10.1111/j.1095-8649.2009.02357.x

Caudron, A; Champigneulle, A; Largiadèr, CR; Launey, S; Guyomard, R (2009). Stocking of native Mediterranean brown trout (Salmo trutta) into French tributaries of Lake Geneva does not contribute to lake-migratory spawners. Ecology of freshwater fish, 18(4), pp. 585-593. Copenhagen: Munksgaard 10.1111/j.1600-0633.2009.00374.x

2008

Amstutz, Ursula; Farese, Simone; Aebi, Stefan; Largiadèr, Carlo R (2008). Hypermethylation of the DPYD promoter region is not a major predictor of severe toxicity in 5-fluorouracil based chemotherapy. Clinical cancer research, 27, p. 54. Philadelphia, Pa.: American Association for Cancer Research 10.1186/1756-9966-27-54

Schild, Christof; Wermuth, Bendicht; Trapp-Chiappini, Daniela; Egger, Florence; Nuoffer, Jean-Marc (2008). Reliability of M protein quantification: comparison of two peak integration methods on Capillarys 2. Clinical chemistry and laboratory medicine, 46(6), pp. 876-7. Berlin: Walter de Gruyter 10.1515/CCLM.2008.146

Engel, Katharina; Nuoffer, Jean-Marc; Mühlhausen, Chris; Klaus, Vera; Largiadèr, Carlo R; Tsiakas, Konstantinos; Santer, René; Wermuth, Bendicht; Häberle, Johannes (2008). Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency. Molecular genetics and metabolism, 94(3), pp. 292-7. Amsterdam: Elsevier 10.1016/j.ymgme.2008.03.009

Giger, Thomas; Excoffier, Laurent; Amstutz, Ursula; Day, Philip J R; Champigneulle, Alexis; Hansen, Michael M; Kelso, Janet; Largiadèr, Carlo R (2008). Population transcriptomics of life-history variation in the genus Salmo. Molecular Ecology, 17(13), pp. 3095-3108. Oxford: Wiley-Blackwell 10.1111/j.1365-294X.2008.03820.x

Neuenschwander, Samuel; Largiadèr, Carlo R; Ray, Nicolas; Currat, Mathias; Vonlanthen, Pascal; Excoffier, Laurent (2008). Colonization history of the Swiss Rhine basin by the bullhead (Cottus gobio): inference under a Bayesian spatially explicit framework. Molecular Ecology, 17(3), pp. 757-772. Oxford: Wiley-Blackwell 10.1111/j.1365-294X.2007.03621.x

Carboni, Giovanni L; Fahrner, Rene; Gazdhar, Amiq; Printzen, Gert; Schmid, Ralph Alexander; Hoksch, Beatrix (2008). Comparison of procalcitonin and CrP in the postoperative course after lung decortication. European journal of cardio-thoracic surgery, 33(5), pp. 777-80. Oxford: Elsevier Science B.V. 10.1016/j.ejcts.2008.02.013

Als, Claudine; Andiel, Andreas G. (2008). Comments on profession and gender statistics of the EANM membership database 2007. European journal of nuclear medicine and molecular imaging, 35(5), pp. 1026-1029. Springer-Verlag 10.1007/s00259-008-0737-x

2007

Trueb, Beat; Taeschler, Sara; Schild, Christof; Lang, Niklaus P (2007). Expression of phosphoproteins and amelotin in teeth. International journal of molecular medicine, 19(1), pp. 49-54. Athens: Spandidos Publications

Russmann, Stefan; Dowlatshahi, Emmilia A; Printzen, Gert; Habicht, Susanne; Reichen, Jürg; Zimmermann, Heinz (2007). Prevalence and associated factors of viral hepatitis and transferrin elevations in 5036 patients admitted to the emergency room of a Swiss university hospital: cross-sectional study. BMC gastroenterology, 7, p. 5. London: BioMed Central 10.1186/1471-230X-7-5

Scheidegger, U A; Flück, C E; Nuoffer, J M (2007). [Hypoglycemia in infancy -- not always of no importance!]. Praxis - schweizerische Rundschau für Medizin, 96(13), pp. 503-6. Bern: Huber

Heller, Manfred; Schlappritzi, Evelyn; Stalder, Daniel; Nuoffer, Jean-Marc; Haeberli, André (2007). Compositional protein analysis of high density lipoproteins in hypercholesterolemia by shotgun LC-MS/MS and probabilistic peptide scoring. Molecular & cellular proteomics, 6(6), pp. 1059-72. Bethesda, Md.: American Society for Biochemistry and Molecular Biology 10.1074/mcp.M600326-MCP200

Vonlanthen, Pascal; Excoffier, Laurent; Bittner, David; Persat, H; Neuenschwander, S; Largiadèr, Carlo (2007). Genetic analysis of potential postglacial watershed crossings in central Europe by the bullhead (Cottus gobio L). Molecular Ecology, 16(21), pp. 4572-4584. Oxford: Wiley-Blackwell 10.1111/j.1365-294X.2007.03531.x

Zbinden, Judith; Largiadèr, Carlo; Leippert, Fabio; Margaritoulis, Dimitris; Arlettaz, Raphaël (2007). High frequency of multiple paternity in the largest rookery of Mediterranean loggerhead sea turtles. Molecular Ecology, 16(17), pp. 3703-3711. Oxford: Wiley-Blackwell 10.1111/j.1365-294X.2007.03426.x

Kälicke, T; Köller, M; Frangen, TM; Schlegel, U; Sprutacz, O; Printzen, G; Muhr, G; Arens, S (2007). Local application of basic fibroblast growth factor increases the risk of local infection after trauma: an in-vitro and in-vivo study in rats. Acta orthopaedica, 78(1), pp. 63-73. Oslo: Informa Healthcare 10.1080/17453670610013439

Als, C; Bischof Delaloye, A (2007). Clinical quality management in telenuclear medicine. European journal of nuclear medicine and molecular imaging, 34(11), pp. 1727-8. Berlin: Springer-Verlag 10.1007/s00259-007-0390-9

Als, C (2007). Optimizing patient throughput in nuclear medicine: a semi-quantitative tool for scheduling bone scintigraphy. European journal of nuclear medicine and molecular imaging, 34(12), pp. 2145-6. Berlin: Springer-Verlag 10.1007/s00259-007-0596-x

Als, C (2007). Techniques classiques de médecine nucléaire. In: Maris M, Jaumotte A (ed.) (pp. 293-300). Bern, Frankfurt a.M.: Lang

Giger, Thomas; Amstutz, Ursula; Excoffier, Laurent; Champigneulle, Alexis; Day, Philip; Powell, Richard; Largiadèr, Carlo (2007). The genetic basis of smoltification: Functional genomics tools facilitate the search for the needle in the haystack. In: Harris, Graeme; Millner, Nigel (eds.) Sea Trout: Biology Conservation and Management (pp. 183-195). Chichester: John Wiley & Sons 10.1002/9780470996027.ch13

Largiadèr, Carlo Rodolfo (2007). Hybridization and Introgression Between Native and Alien Species. In: Nentwig, Wolfgang (ed.) Biological Invasions. Ecological Studies: Vol. 193 (pp. 275-292). Heidelberg: Springer 10.1007/978-3-540-36920-2_16

Wunder, DM; Bersinger, NA; Yared, M; Kretschmer, R; Birkhäuser, MH (2007). Statistically significant changes of anti-mullerian hormone and inhibin levels during the physiologic menstrual cycle in reproductive age women. Fertility and sterility, 89(4), pp. 927-933. New York, N.Y.: Elsevier 10.1016/j.fertnstert.2007.04.054

2006

Matter, Matthias; Odermatt, Bernhard; Yagita, Hideo; Nuoffer, Jean-Marc; Ochsenbein, Adrian F (2006). Elimination of chronic viral infection by blocking CD27 signaling. Journal of experimental medicine, 203(9), pp. 2145-55. New York, N.Y.: Rockefeller University Press 10.1084/jcm.20060651

Wunder, D M; Yared, M; Bersinger, N A; Widmer, D; Kretschmer, R; Birkhäuser, M H (2006). Serum leptin and C-reactive protein levels in the physiological spontaneous menstrual cycle in reproductive age women. European journal of endocrinology, 155(1), pp. 137-42. Bristol: BioScientifica Ltd. 10.1530/eje.1.02178

Giger, Thomas; Excoffier, Laurent; Day, Philip J R; Champigneulle, Alexis; Hansen, Michael M; Powell, Richard; Largiadèr, Carlo R (2006). Life history shapes gene expression in salmonids. Current Biology, 16(8), R281-R282. Cambridge, Mass.: Cell Press 10.1016/j.cub.2006.03.053

Sciotti, Michel A; Tam, Steven; Wermuth, Bendicht; Baker, Michael E (2006). Differences in catalytic activity between rat testicular and ovarian carbonyl reductases are due to two amino acids. FEBS letters, 580(1), pp. 67-71. Amsterdam: Elsevier 10.1016/j.febslet.2005.11.049

Serra, Andreas L; Klein, Maja; Nitsch, Dorothea; Dürr, Daniel; Wermuth, Bendicht; Frey, Felix J (2006). A puzzling case of high serum creatinine in a healthy woman. Nephrology, dialysis, transplantation, 21(5), pp. 1456-7. Oxford: Oxford University Press 10.1093/ndt/gfi343

Pavlovic, J; Nuoffer, JM; Schaller, A; Slotboom, J; Loennfors, T; Steinlin, M (2006). Blitz-Nick-Salaam-Krämpfe als Erstmanifestation einer mitochondrialen Störung. Epileptologie(2), pp. 66-70. Zürich: Schweizerische Liga gegen Epilepsie

Bakker, Theo C M; Zbinden, Marc; Frommen, Joachim G; Weiss, Alexander; Largiadèr, Carlo R (2006). Slow fertilization of stickleback eggs: the result of sexual conflict? BMC ecology, 6, p. 7. London: BioMed Central 10.1186/1472-6785-6-7

Amstutz, U; Giger, T; Champigneulle, A; Day, PJR; Largiader, CR (2006). Distinct temporal patterns of transaldolase 1 gene expression in future migratory and sedentary brown trout (Salmo trutta). Aquaculture, 1-4(260), j. Amsterdam: Elsevier 10.1016/j.aquaculture.2006.06.007

Zugck, Christian; Nelles, Manfred; Katus, Hugo A; Collinson, Paul O; Gaze, David C; Dikkeschei, Bert; Gurr, Eberhard; Hayen, Wiebke; Haass, Markus; Hechler, Christoph; van Hoof, Viviane; Guerti, Khadija; van Waes, Carl; Printzen, Gert; Klopprogge, Kai; Schulz, Ilse; Zerback, Rainer (2006). Multicentre evaluation of a new point-of-care test for the determination of NT-proBNP in whole blood. Clinical chemistry and laboratory medicine, 44(10), pp. 1269-77. Berlin: Walter de Gruyter 10.1515/CCLM.2006.215

Kälicke, Thomas; Schierholz, Jörg; Schlegel, Urs; Frangen, Thomas Manfred; Köller, Manfred; Printzen, Gert; Seybold, Dominik; Klöckner, Stefan; Muhr, Gert; Arens, Stephan (2006). Effect on infection resistance of a local antiseptic and antibiotic coating on osteosynthesis implants: an in vitro and in vivo study. Journal of orthopaedic research, 24(8), pp. 1622-40. Hoboken, N.J.: Wiley 10.1002/jor.20193

Azevedo, L; Soares, P A; Quental, R; Vilarinho, L; Teles, E L; Martins, E; Diogo, L; Garcia, P; Cenni, B; Wermuth, B; Amorim, A (2006). Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC). Annals of human genetics, 70(Pt 6), pp. 797-801. Oxford: Wiley-Blackwell 10.1111/j.1469-1809.2006.00283.x

Als, C; Brautigam, P (2006). Job-sharing in nuclear medicine: an 8-year experience (1998-2006).

Als, C; Bischof Delaloye, A (2006). On Turkey and Greece and the EANM banner. European journal of nuclear medicine and molecular imaging, 33(3), p. 395. Berlin: Springer

Als, C (2006). Dissonances contemporaines du MUDAM.

Caudron, A; Champigneulle, A; Largiadèr, CR; Guyomard, R (2006). Bilan des Conaissance en Début 2003 et Cadrage du Programme. In: Programme INTERREG III A- Identification sauvegarde et réhabilitation des populations de truite autochthones en Vallée d Aoste et en Haute-Savoie. Milano: Jona Srl - Paderno Dugnano

Nuoffer, Jean-Marc (2006). Stoffwechselstörungen. In: Baumann, Thomas (ed.) Atlas der Entwicklungsdiagnostik (96ff). Stuttgart-New York/Athen: Thieme

Rossi, EJ; Sim, L; Kuntz, D.A.; Hahn, D; Johnston, BD; Ghavami, A; Szczepina, MG; Kumar, NS; Sterchi, EE; Nichols, BL; Pinto, BM; Rose, DR (2006). Inhibition of recombinant human maltase glucoamylase by salacinol and derivatives. FEBS journal, 273(12), pp. 2673-2683. Oxford: Wiley-Blackwell 10.1111/j.1742-4658.2006.05283.x

2005

Nuoffer, Jean-Marc; Mullis, P. E. (2005). Hypoglykämien – Diagnostik und Therapie im Notfall. Therapeutische Umschau, 62(8), pp. 543-548. Huber 10.1024/0040-5930.62.8.543

Schmidt, Eva; Nuoffer, Jean-Marc; Häberle, Johannes; Pauli, Silke; Guffon, Nathalie; Vianey-Saban, Christine; Wermuth, Bendicht; Koch, Hans Georg (2005). Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. Biochimica et biophysica acta - molecular basis of disease, 1740(1), pp. 54-59. Elsevier 10.1016/j.bbadis.2005.02.006

Rentsch, K.; Fathi, M.; Grignaschi, N.; Magnin, J.L.; Printzen, Gert; Thormann, Wolfgang; Wenk, M.; Werner, D. (2005). Monographies on drugs, which are frequently analysed in the course of Therapeutic Drug Monitoring. LaboratoriumsMedizin / Journal of laboratory medicine, 29(4), pp. 287-297. Walter de Gruyter 10.1515/JLM.2005.040

Als, Claudine; Bräutigam, Peter; Mirzaei, Siroos (2005). Sweet nuclear medicine phantoms for scintigraphic sentinel lymph node detection: a cooking recipe. European journal of nuclear medicine and molecular imaging, 32(5), pp. 623-624. Springer-Verlag 10.1007/s00259-004-1751-2

2003

Brander, L; Als, C.; Buess, H; Haldimann, F; Harder, M; Hänggi, W.; Herrmann, U; Lauber, K; Niederer, U; Zürcher, T; Bürgi, U; Gerber, H (2003). Urinary iodine concentration during pregnancy in an area of unstable dietary iodine intake in Switzerland. Journal of endocrinological investigation, 26(5), pp. 389-96. Milano: Ed. Kurtis, Milano 10.1007/BF03345192

2002

Kuster, Gabriela M; Tanner, Hildegard; Printzen, Gert; Suter, Thomas M; Mohacsi, Paul; Hess, Otto M (2002). B-type natriuretic peptide for diagnosis and treatment of congestive heart failure. Swiss medical weekly, 132(43-44), pp. 623-8. EMH Schweizerischer Ärzteverlag

Landolt, Markus A.; Nuoffer, Jean-Marc; Steinmann, Beat; Superti-Furga, Andrea (2002). Quality of life and psychologic adjustment in children and adolescents with early treated phenylketonuria can be normal. Journal of pediatrics, 140(5), pp. 516-521. Elsevier 10.1067/mpd.2002.123663

Truttmann, Anita C.; Faraone, Rita; von Vigier, Rodo O.; Nuoffer, Jean-Marc; Pfister, Roger; Bianchetti, Mario G. (2002). Maintenance Hemodialysis and Circulating Ionized Magnesium. Nephron, 92(3), pp. 616-621. Karger 10.1159/000064109

2001

Pfister, M; Gottstein, Bruno; Kretschmer, Robert; Cerny, T; Cerny, A (2001). Elevated carbohydrate antigen 19-9 (CA 19-9) in patients with Echinococcus infection. Clinical chemistry and laboratory medicine, 39(6), pp. 527-530. Walter de Gruyter 10.1515/CCLM.2001.088

2000

Nuoffer, Jean-Marc; Flück, Christa; Deladoëy, Johnny; Eblé, Andrée; Dattani, M T; Mullis, Primus-Eugen (2000). Regulation of human GH receptor gene transcription by 20 and 22 kDa GH in a human hepatoma cell line. Journal of endocrinology, 165(2), pp. 313-320. BioScientifica

Nuoffer, Jean-Marc; de Lonlay, P.; Costa, C.; Roe, C. R.; Chamoles, N.; Brivet, M.; Saudubray, J. M. (2000). Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency. European journal of pediatrics, 159(1-2), pp. 82-85. Springer 10.1007/pl00013810

von Vigier, Rodo O.; Truttmann, Anita C.; Zindler‐Schmocker, Karin; Bettinelli, Alberto; Casaulta Aebischer, Carmen; Wermuth, Bendicht; Bianchetti, Mario G. (2000). Aminoglycosides and renal magnesium homeostasis in humans. Nephrology, dialysis, transplantation, 15(6), pp. 822-826. Oxford University Press 10.1093/ndt/15.6.822

1998

Megnien, J.-L.; Gariepy, J.; Saudubray, J.-M.; Nuoffer, Jean-Marc; Denarie, N.; Levenson, J.; Simon, A. (1998). Evidence of Carotid Artery Wall Hypertrophy in Homozygous Homocystinuria. Circulation, 98(21), pp. 2276-2281. Lippincott Williams & Wilkins 10.1161/01.cir.98.21.2276

Pedrozzi, Nicola E.; Truttmann, Anita C.; Faraone, Rita; Descoeudres, Claude E.; Wermuth, Bendicht; Lüthy, Christa M.; Nuoffer, Jean-Marc; Frey, Felix; Bianchetti, Mario Giovanni (1998). Circulating Ionized and Total Magnesium in End-Stage Kidney Disease. Nephron, 79(3), pp. 288-292. Karger 10.1159/000045051

1997

Nuoffer, Jean-Marc; Mullis, P. E.; Wiesmann, U. N. (1997). Treatment with low-dose diazoxide in two growth-retarded prepubertal girls with glycogen storage disease type Ia resulted in catch-up growth. Journal of inherited metabolic disease, 20(6), pp. 790-798. Kluwer Academic Publishers 10.1023/a:1005319818015

Mullis, Primus-Eugen; Wagner, Johannes K; Eblé, Andrée; Nuoffer, Jean-Marc; Postel-Vinay, Marie-Catherine (1997). Regulation of human growth hormone receptor gene transcription by human growth hormone binding protein. Molecular and cellular endocrinology, 131(1), pp. 89-96. Elsevier Ireland 10.1016/s0303-7207(97)00096-8

Vella, S.; Steiner, F.; Schlumbom, V.; Zurbrügg, R.; Wiesmann, U. N.; Schaffner, T.; Wermuth, B. (1997). Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity. Journal of inherited metabolic disease, 20(4), pp. 517-524. Springer 10.1023/A:1005397329395

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