04 Faculty of Medicine > Pre-clinic Human Medicine > Department of Clinical Research (DCR) > Unit Childrens Hospital > Forschungsgruppe Humangenetik

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Number of items at this level: 23.

2016

Braga, Sophie Marie-Pierre; Buchs, Natasha; Iacovache, Mircea Ioan; Zuber, Benoît; Jackson, Christopher; Heller, Manfred (2016). Robust Label-free, Quantitative Profiling of Circulating Plasma Microparticle (MP) Associated Proteins. Molecular & cellular proteomics, 15(12), pp. 3640-3652. American Society for Biochemistry and Molecular Biology 10.1074/mcp.M116.060491

Pröbstel, Anne-Katrin; Schaller, André; Lieb, Johanna; Hench, Juergen; Frank, Stephan; Fuhr, Peter; Kappos, Ludwig; Sinnreich, Michael (2016). Mitochondrial cytopathy with common MELAS mutation presenting as multiple system atrophy mimic. Neurology Genetics, 2(6), e121. Wolters Kluwer 10.1212/NXG.0000000000000121

Stamberger, Hannah; Nikanorova, Marina; Willemsen, Marjolein H; Accorsi, Patrizia; Angriman, Marco; Baier, Hartmut; Benkel-Herrenbrueck, Ira; Benoit, Valérie; Budetta, Mauro; Caliebe, Almuth; Cantalupo, Gaetano; Capovilla, Giuseppe; Casara, Gianluca; Courage, Carolina; Deprez, Marie; Destrée, Anne; Dilena, Robertino; Erasmus, Corrie E; Fannemel, Madeleine; Fjær, Roar; ... (2016). STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. Neurology, 86(10), pp. 954-962. Lippincott Williams & Wilkins 10.1212/WNL.0000000000002457

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

2015

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. 10.1002/acn3.189

Maas, Saskia M; Shaw, Adam C; Bikker, Hennie; Lüdecke, Hermann-Josef; van der Tuin, Karin; Badura-Stronka, Magdalena; Belligni, Elga; Biamino, Elisa; Bonati, Maria Teresa; Carvalho, Daniel R; Cobben, JanMaarten; de Man, Stella A; Den Hollander, Nicolette S; Di Donato, Nataliya; Garavelli, Livia; Grønborg, Sabine; Herkert, Johanna C; Hoogeboom, A Jeannette M; Jamsheer, Aleksander; Latos-Bielenska, Anna; ... (2015). Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome. European journal of medical genetics, 58(5), pp. 279-292. Elsevier 10.1016/j.ejmg.2015.03.002

Bladen, Catherine L; Salgado, David; Monges, Soledad; Foncuberta, Maria E; Kekou, Kyriaki; Kosma, Konstantina; Dawkins, Hugh; Lamont, Leanne; Roy, Anna J; Chamova, Teodora; Guergueltcheva, Velina; Chan, Sophelia; Korngut, Lawrence; Campbell, Craig; Dai, Yi; Wang, Jen; Barišić, Nina; Brabec, Petr; Lahdetie, Jaana; Walter, Maggie C; ... (2015). The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Human mutation, 36(4), pp. 395-402. Wiley-Blackwell 10.1002/humu.22758

Syrbe, Steffen; Hedrich, Ulrike B S; Riesch, Erik; Djémié, Tania; Müller, Stephan; Møller, Rikke S; Maher, Bridget; Hernandez-Hernandez, Laura; Synofzik, Matthis; Caglayan, Hande S; Arslan, Mutluay; Serratosa, José M; Nothnagel, Michael; May, Patrick; Krause, Roland; Löffler, Heidrun; Detert, Katja; Dorn, Thomas; Vogt, Heinrich; Krämer, Günter; ... (2015). De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nature genetics, 47(4), pp. 393-399. Nature America 10.1038/ng.3239

Wilhelm, Matthias; Bolliger, Stephan A; Bartsch, Christine; Fokstuen, Siv; Gräni, Christoph; Martos, Viktor; Medeiros Domingo, Argelia; Osculati, Antonio; Rieubland, Claudine; Sabatasso, Sara; Saguner, Ardan Muammer; Schyma, Christian; Tschui, Joëlle; Wyler, Daniel; Bhuiyan, Zahurul A; Fellmann, Florence; Michaud, Katarzyna (2015). Sudden cardiac death in forensic medicine – Swiss recommendations for a multidisciplinary approach. Swiss medical weekly, 145, w14129. EMH Schweizerischer Ärzteverlag 10.4414/smw.2015.14129

Dhayat, Nasser; Schaller, André; Albano, Giuseppe; Poindexter, John; Griffith, Carolyn; Pasch, Andreas; Gallati, Sabina; Vogt, Bruno; Moe, Orson; Fuster, Daniel Guido (2015). The Vacuolar H+-ATPase B1 Subunit Polymorphism p.E161K Associates with Impaired Urinary Acidification in Recurrent Stone Formers. Journal of the American Society of Nephrology, 27(5), pp. 1544-1554. Lippincott Williams & Wilkins 10.1681/ASN.2015040367

2014

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

Courage, Carolina; Houge, Gunnar; Gallati, Sabina; Schjelderup, Jack; Rieubland, Claudine (2014). 15q26.1 microdeletion encompassing only CHD2 and RGMA in two adults with moderate intellectual disability, epilepsy and truncal obesity. European journal of medical genetics, 57(9), pp. 520-523. Elsevier 10.1016/j.ejmg.2014.06.003

Stickel, Felix; Buch, Stephan; Zoller, Heinz; Hultcrantz, Rolf; Gallati, Sabina; Österreicher, Christoph; Finkenstedt, Armin; Stadlmayr, Andreas; Aigner, Elmar; Sahinbegovic, Enijad; Sarrazin, Christoph; Schafmayer, Clemens; Braun, Felix; Erhart, Wiebke; Nothnagel, Michael; Lerch, Markus M; Mayerle, Julia; Völzke, Henry; Schaller, André; Kratzer, Wolfgang; ... (2014). Evaluation of genome-wide loci of iron metabolism in hereditary hemochromatosis identifies PCSK7 as a host risk factor of liver cirrhosis. Human molecular genetics, 23(14), pp. 3883-3890. Oxford University Press 10.1093/hmg/ddu076

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

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

Müller, Cristina; Reber, Josefine; Haller, Stephanie; Dorrer, Holger; Bernhardt, Peter; Zhernosekov, Konstantin; Türler, Andreas; Schibli, Roger (2014). Direct in vitro and in vivo comparison of 161Tb and 177Lu using a tumour-targeting folate conjugate. European journal of nuclear medicine and molecular imaging, 41(3), pp. 476-485. Springer 10.1007/s00259-013-2563-z

Gallati, Sabina (2014). Disease-modifying genes and monogenic disorders: experience in cystic fibrosis. The application of clinical genetics, 7, pp. 133-146. Dove Press 10.2147/TACG.S18675

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

Rueegg, Corina S.; Kuehni, Claudia E.; Gallati, Sabina; Baumgartner, Matthias; Torresani, Toni; Barben, Juerg (2013). One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland. Deutsches Ärzteblatt international, 110(20), pp. 356-363. Deutscher Ärzte-Verlag 10.3238/arztebl.2013.0356

Niemann, Moritz; Wiese, Sebastian; Mani, Jan; Chanfon, Astrid; Jackson, Christopher; Meisinger, Christof; Warscheid, Bettina; Schneider, André (2013). Mitochondrial Outer Membrane Proteome of Trypanosoma brucei Reveals Novel Factors Required to Maintain Mitochondrial Morphology. Molecular & cellular proteomics, 12(2), pp. 515-528. Bethesda, Md.: American Society for Biochemistry and Molecular Biology 10.1074/mcp.M112.023093

Gallati, Sabina (2013). Cystic Fibrosis: Genetics, pathophysiology and epidemiology of CF. In: Eber, Ernst; Midulla, Fabio (eds.) ERS Handbook of Paediatric Respiratory Medicine (pp. 390-396). European Respiratory Society

Gallati, Sabina (2013). Genetische Diagnostik. In: von Mutius, Erika; Gappa, Monika; Eber, Ernst; Frey, Urs (eds.) Paediatrische Pneumologie (pp. 390-396). Springer Verlag

Gallati, Sabina (2013). Zystische Fibrose - Genetik. In: von Mutius, Erika; Gappa, Monika; Eber, Ernst; Frey, Urs (eds.) Paediatrische Pneumologie (pp. 589-596). Springer Verlag

This list was generated on Mon Mar 27 18:29:03 2017 CEST.
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