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Liimatta, Jani; du Toit, Therina; Voegel, Clarissa D; Jääskeläinen, Jarmo; Lakka, Timo A; Flück, Christa E (2024). Multiple androgen pathways contribute to the steroid signature of adrenarche. Molecular and cellular endocrinology, 592(112293), p. 112293. Elsevier Ireland 10.1016/j.mce.2024.112293
Mathis, Déborah; du Toit, Therina; Altinkilic, Emre Murat; Stojkov, Darko; Urzì, Christian; Voegel, Clarissa D; Wu, Vincen; Zamboni, Nicola; Simon, Hans-Uwe; Nuoffer, Jean-Marc; Flück, Christa E; Felser, Andrea (2024). Mitochondrial dysfunction results in enhanced adrenal androgen production in H295R cells. The journal of steroid biochemistry and molecular biology, 243(106561), p. 106561. Elsevier 10.1016/j.jsbmb.2024.106561
Altinkilic, Emre Murat; Augsburger, Philipp; Pandey, Amit V; Flueck, Christa (2024). Clinical spectrum of human STAR variants and their genotype-phenotype correlation. Journal of endocrinology, 262(3) BioScientifica 10.1530/JOE-24-0078
Breault, David T; Flück, Christa E; Pignatti, Emanuele (2024). Response to Letter to the Editor from Hoekstra: 'Adrenal Abcg1 Controls Cholesterol Flux and Steroidogenesis'. Endocrinology, 165(10) Oxford University Press 10.1210/endocr/bqae091
Frederiksen, Hanne; Johannsen, Trine Holm; Andersen, Stine Ehlern; Petersen, Jørgen Holm; Busch, Alexander Siegfried; Ljubicic, Marie Lindhardt; Fischer, Margit Bistrup; Upners, Emmie N; Hagen, Casper P; Main, Katharina M; Aksglaede, Lise; Jørgensen, Niels; Lund Kårhus, Line; Linneberg, Allan; Andersson, Anna-Maria; Flück, Christa E; Juul, Anders (2024). Sex- and age-specific reference intervals of 16 steroid metabolites quantified simultaneously by LC-MS/MS in sera from 2458 healthy subjects aged 0 to 77 years. Clinica chimica acta, 562, p. 119852. Elsevier 10.1016/j.cca.2024.119852
Agbaje, Andrew O; Saner, Christoph; Zhang, Jie; Henderson, Mélanie; Tuomainen, Tomi-Pekka (2024). DEXA-based Fat Mass with the Risk of Worsening Insulin Resistance in Adolescents: A 9-Year Temporal and Mediation Study. The journal of clinical endocrinology and metabolism, 109(9), e1708-e1719. Oxford University Press 10.1210/clinem/dgae004
Brachet, Cécile; Laemmle, Alexander; Cools, Martine; Sauter, Kay-Sara; De Baere, Elfride; Vanlander, Arnaud; Pandey, Amit V; Du Toit, Therina; Voegel, Clarissa D; Heinrichs, Claudine; Verdin, Hannah; Flück, Christa E (2024). Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant. European journal of endocrinology, 191(2), pp. 144-155. Oxford Academic 10.1093/ejendo/lvae090
Øzdemir, Cagla Margit; Nielsen, Mette Mølby; Liimatta, Jani; Voegel, Clarissa D; Naamneh Elzenaty, Rawda; Wasehuus, Victor S; Lind-Holst, Marie; Ornstrup, Marie Juul; Gram, Stine Bjørn; Ousager, Lilian Bomme; Flück, Christa E; Gravholt, Claus H (2024). Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency - characterization of a new genetic variant. Endocrinology, diabetes & metabolism case reports, 2024(3) Bioscientifica 10.1530/EDM-23-0090
Augsburger, Philipp; Liimatta, Jani; Flück, Christa E (2024). Update on Adrenarche - Still a Mystery. The journal of clinical endocrinology and metabolism, 109(6), pp. 1403-1422. Oxford University Press 10.1210/clinem/dgae008
Bekkering, Siroon; Saner, Christoph; Novakovic, Boris; Mansell, Toby; Longmore, Danielle K; McCallum, Zoe; Ponsonby, Anne-Louise; Juonala, Markus; Netea, Mihai G; Sabin, Matthew A; Saffery, Richard; Riksen, Niels P; Burgner, David P (2024). Increased innate immune responses in adolescents with obesity and its relation to subclinical cardiovascular measures: An exploratory study. iScience, 27(109762) Elsevier 10.1016/j.isci.2024.109762
Yakubu, Jibira; Pandey, Amit V (2024). Innovative Delivery Systems for Curcumin: Exploring Nanosized and Conventional Formulations. Pharmaceutics, 16(5) MDPI 10.3390/pharmaceutics16050637
Naamneh Elzenaty, Rawda; Martinez de Lapiscina, Idoia; Kouri, Chrysanthi; Sauter, Kay-Sara; Sommer, Grit; Castaño, Luis; Flück, Christa E (2024). Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development: The SF1next study. (In Press). The journal of clinical endocrinology and metabolism Oxford University Press 10.1210/clinem/dgae251
Sharma, Katyayani; Lanzilotto, Angelo; Yakubu, Jibira; Therkelsen, Søren; Vöegel, Clarissa Daniela; Du Toit, Therina; Jørgensen, Flemming Steen; Pandey, Amit V. (2024). Effect of Essential Oil Components on the Activity of Steroidogenic Cytochrome P450. Biomolecules, 14(2), p. 203. MDPI 10.3390/biom14020203
Liimatta, Jani; Curschellas, Evelyn; Altinkilic, Emre Murat; Naamneh Elzenaty, Rawda; Augsburger, Philipp; Du Toit, Therina; Voegel, Clarissa D; Breault, David T; Flück, Christa E; Pignatti, Emanuele (2024). Adrenal Abcg1 controls cholesterol flux and steroidogenesis. Endocrinology, 165(3) Oxford University Press 10.1210/endocr/bqae014
Kouri, Chrysanthi; Sommer, Grit; Martinez de LaPiscina, Idoia; Naamneh Elzenaty, Rawda; Tack, Lloyd J W; Cools, Martine; Ahmed, S Faisal; Flück, Christa E (2024). Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development. EBioMedicine, 99, p. 104941. Elsevier 10.1016/j.ebiom.2023.104941
Martinez, Stephanie E; Pandey, Amit Vikram; Perez Jimenez, Tania E; Zhu, Zhaohui; Court, Michael H (2024). Pharmacogenomics of poor drug metabolism in greyhounds: Canine P450 oxidoreductase genetic variation, breed heterogeneity, and functional characterization. PLoS ONE, 19(e0297191) Public Library of Science 10.1371/journal.pone.0297191
Karafyllis, Ioannis; Nuoffer, Jean-Marc; Michelis, Joan-Philipp; Chilver-Stainer, Lara (2024). Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia - A Case Report. Case reports in neurology, 16(1), pp. 55-62. Karger 10.1159/000536679
Rojas Velazquez, Maria Natalia; Therkelsen, Søren; Pandey, Amit V (2023). Exploring Novel Variants of the Cytochrome P450 Reductase Gene (POR) from the Genome Aggregation Database by Integrating Bioinformatic Tools and Functional Assays. Biomolecules, 13(12) MDPI 10.3390/biom13121728
Liimatta, Jani; Flück, Christa E; Mäntyselkä, Aino; Häkkinen, Merja R; Auriola, Seppo; Voutilainen, Raimo; Jääskeläinen, Jarmo; Lakka, Timo A (2023). Effects of 2-year physical activity and dietary intervention on adrenarchal and pubertal development: the PANIC study. The journal of clinical endocrinology and metabolism, 108(12), e1603-e1613. Oxford University Press 10.1210/clinem/dgad367
Zhang, Hanyue; Senior, Alistair M; Saner, Christoph; Olsen, Nanna J; Larsen, Sofus C; Simpson, Stephen J; Raubenheimer, David; Heitmann, Berit L (2023). Evidence for the protein leverage hypothesis in preschool children prone to obesity. Clinical nutrition, 42(11), pp. 2249-2257. Elsevier 10.1016/j.clnu.2023.09.025
Zhu, Yanshan; Almeida, Flávia Jacqueline; Baillie, J Kenneth; Bowen, Asha C; Britton, Philip N; Brizuela, Martin Eduardo; Buonsenso, Danilo; Burgner, David; Chew, Keng Yih; Chokephaibulkit, Kulkanya; Cohen, Cheryl; Cormier, Stephania A; Crawford, Nigel; Curtis, Nigel; Farias, Camila G A; Gilks, Charles F; von Gottberg, Anne; Hamer, Diana; Jarovsky, Daniel; Jassat, Waasila; ... (2023). International Pediatric COVID-19 Severity Over the Course of the Pandemic. JAMA pediatrics, 177(10), pp. 1073-1084. American Medical Association 10.1001/jamapediatrics.2023.3117
Altinkilic, Emre Murat; du Toit, Therina; Sakin, Önder; Attar, Rukset; Groessl, Michael; Flück, Christa E. (2023). The serum steroid signature of PCOS hints at the involvement of novel pathways for excess androgen biosynthesis. The journal of steroid biochemistry and molecular biology, 233, p. 106366. Elsevier 10.1016/j.jsbmb.2023.106366
Strebel, Sven; Baust, Katja; Grabow, Desiree; Byrne, Julianne; Langer, Thorsten; Am Zehnhoff-Dinnesen, Antoinette; Kuonen, Rahel; Weiss, Annette; Kepak, Tomas; Kruseova, Jarmila; Berger, Claire; Calaminus, Gabriele; Sommer, Grit; Kuehni, Claudia E (2023). Auditory complications among childhood cancer survivors and health-related quality of life: a PanCareLIFE study. (In Press). Journal of Cancer Survivorship Springer 10.1007/s11764-023-01456-4
Wróbel, Tomasz M; Sharma, Katyayani; Mannella, Iole; Oliaro-Bosso, Simonetta; Nieckarz, Patrycja; du Toit, Therina; Voegel, Clarissa Daniela; Rojas Velazquez, Maria Natalia; Yakubu, Jibira; Matveeva, Anna; Therkelsen, Søren; Jørgensen, Flemming Steen; Pandey, Amit V; Pippione, Agnese C; Lolli, Marco L; Boschi, Donatella; Björkling, Fredrik (2023). Exploring the Potential of Sulfur Moieties in Compounds Inhibiting Steroidogenesis. Biomolecules, 13(9) MDPI 10.3390/biom13091349
Roser, Katharina; Baenziger, Julia; Ilic, Anica; Mitter, Vera R; Mader, Luzius; Dyntar, Daniela; Michel, Gisela; Sommer, Grit (2023). Health-related quality of life before and during the COVID-19 pandemic in Switzerland: a cross-sectional study. Quality of life research, 32(9), pp. 2695-2706. Springer 10.1007/s11136-023-03414-0
Mansell, Toby; Bekkering, Siroon; Longmore, Danielle; Magnussen, Costan G; Vlahos, Amanda; Harcourt, Brooke E; McCallum, Zoe; Kao, Kung-Ting; Sabin, Matthew A; Juonala, Markus; Saffery, Richard; Burgner, David P; Saner, Christoph (2023). Change in adiposity is associated with change in glycoprotein acetyls but not hsCRP in adolescents with severe obesity. Obesity research & clinical practice, 17(4), pp. 343-348. Elsevier 10.1016/j.orcp.2023.08.003
Grassi, Mara; Laubscher, Bernard; Pandey, Amit V; Tschumi, Sibylle; Graber, Franziska; Schaller, André; Janner, Marco; Aeberli, Daniel; Hewer, Ekkehard; Nuoffer, Jean-Marc; Gautschi, Matthias (2023). Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes. Molecular syndromology, 14(4), pp. 347-361. Karger 10.1159/000529306
Saner, Christoph; Senior, Alistair M; Zhang, Hanyue; Eloranta, Aino-Maija; Magnussen, Costan G; Sabin, Matthew A; Juonala, Markus; Janner, Marco; Burgner, David P; Schwab, Ursula; Haapala, Eero A; Heitmann, Berit L; Simpson, Stephen J; Raubenheimer, David; Lakka, Timo A (2023). Evidence for protein leverage in a general population sample of children and adolescents. European journal of clinical nutrition, 77(6), pp. 652-659. Springer Nature 10.1038/s41430-023-01276-w
Wróbel, Tomasz M; Jørgensen, Flemming Steen; Pandey, Amit V; Grudzińska, Angelika; Sharma, Katyayani; Yakubu, Jibira; Björkling, Fredrik (2023). Non-steroidal CYP17A1 Inhibitors: Discovery and Assessment. Journal of medicinal chemistry, 66(10), pp. 6542-6566. American Chemical Society 10.1021/acs.jmedchem.3c00442
Malesevic, Stefan; Sievi, Noriane A; Baumgartner, Patrick; Roser, Katharina; Sommer, Grit; Schmidt, Dörthe; Vallelian, Florence; Jelcic, Ilijas; Clarenbach, Christian F; Kohler, Malcolm (2023). Impaired health-related quality of life in long-COVID syndrome after mild to moderate COVID-19. Scientific Reports, 13(1), p. 7717. Nature Publishing Group 10.1038/s41598-023-34678-8
Calvert, Clara; Brockway, Meredith Merilee; Zoega, Helga; Miller, Jessica E; Been, Jasper V; Amegah, Adeladza Kofi; Racine-Poon, Amy; Oskoui, Solmaz Eradat; Abok, Ishaya I; Aghaeepour, Nima; Akwaowo, Christie D; Alshaikh, Belal N; Ayede, Adejumoke I; Bacchini, Fabiana; Barekatain, Behzad; Barnes, Rodrigo; Bebak, Karolina; Berard, Anick; Bhutta, Zulfiqar A; Brook, Jeffrey R; ... (2023). Changes in preterm birth and stillbirth during COVID-19 lockdowns in 26 countries. Nature human behaviour, 7(4), pp. 529-544. Springer Nature 10.1038/s41562-023-01522-y
Lucas, Cécily; Sauter, Kay-Sara; Steigert, Michael; Mallet, Delphine; Wilmouth, James; Olabe, Julie; Plotton, Ingrid; Morel, Yves; Aeberli, Daniel; Wagner, Franca; Clevers, Hans; Pandey, Amit V; Val, Pierre; Roucher-Boulez, Florence; Fluck, Christa E (2023). Loss of LGR4/GPR48 causes severe neonatal salt-wasting due to disrupted WNT signaling altering adrenal zonation. The journal of clinical investigation, 133(4) American Society for Clinical Investigation 10.1172/JCI164915
Pignatti, Emanuele; Du Toit, Therina; Flück, Christa E (2023). Development and function of the fetal adrenal. Reviews in endocrine and metabolic disorders, 24(1), pp. 5-21. Springer 10.1007/s11154-022-09756-3
Raftopoulou, Christina; Abawi, Ozair; Sommer, Grit; Binou, Maria; Paltoglou, George; Flück, Christa E; van den Akker, Erica L T; Charmandari, E (2023). Leukocyte Telomere Length in Children with Congenital Adrenal Hyperplasia. The journal of clinical endocrinology and metabolism, 108(2), pp. 443-452. Oxford University Press 10.1210/clinem/dgac560
Kouri, Chrysanthi; Sommer, Grit; Flück, Christa E. (2023). Oligogenic causes of human differences of sex development: Facing the challenge of genetic complexity. Hormone research in paediatrics, 96(2), pp. 169-179. Karger 10.1159/000519691
Guran, Tulay; Flück Pandey, Christa Emma (2023). Introduction. Hormone research in paediatrics, 96(2), p. 115. Karger 10.1159/000519896
Martinez de LaPiscina, Idoia; Kouri, Chrysanthi; Aurrekoetxea, Josu; Sanchez, Mirian; Naamneh Elzenaty, Rawda; Sauter, Kay-Sara; Camats, Núria; Grau, Gema; Rica, Itxaso; Rodriguez, Amaia; Vela, Amaia; Cortazar, Alicia; Alonso-Cerezo, Maria Concepción; Bahillo, Pilar; Bertholt, Laura; Esteva, Isabel; Castaño, Luis; Flück, Christa E (2023). Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations. PLoS ONE, 18(7), e0287515. Public Library of Science 10.1371/journal.pone.0287515
Flück, Christa E; Kuiri-Hänninen, Tanja; Silvennoinen, Sanna; Sankilampi, Ulla; Groessl, Michael (2022). The androgen metabolome of preterm infants reflects fetal adrenal gland involution. The journal of clinical endocrinology and metabolism, 107(11), pp. 3111-3119. Oxford University Press 10.1210/clinem/dgac482
Dennig, Michelle J; Sommer, Grit; Zingg, Tanja; Flück, Christa E; Böttcher, Claudia (2022). Stable Metabolic Control but Increased Demand for Professional Support in Children with Type 1 Diabetes in the Past Ten Years in Bern/Switzerland: A Quality Control Study. Journal of diabetes research, 2022(3170558), p. 3170558. Hindawi 10.1155/2022/3170558
Ilic, Anica; Roser, Katharina; Sommer, Grit; Baenziger, Julia; Mitter, Vera Ruth; Mader, Luzius; Dyntar, Daniela; Michel, Gisela (2022). COVID-19 Information-Seeking, Health Literacy, and Worry and Anxiety During the Early Stage of the Pandemic in Switzerland: A Cross-Sectional Study. International journal of public health, 67, p. 1604717. Frontiers 10.3389/ijph.2022.1604717
Pignatti, Emanuele; Altinkiliç, Emre Murat; Bräutigam, Konstantin; Grössl, Michael; Perren, Aurel; Zavolan, Mihaela; Flück, Christa E (2022). Cholesterol deprivation drives DHEA biosynthesis in human adrenals. Endocrinology, 163(7) Endocrine Society 10.1210/endocr/bqac076
Magyar, Benjamin P; Santi, Maristella; Sommer, Grit; Nuoffer, Jean-Marc; Leichtle, Alexander; Grössl, Michael; Fluck, Christa E (2022). Short-Term Fasting Attenuates Overall Steroid Hormone Biosynthesis in Healthy Young Women. Journal of the Endocrine Society, 6(7), bvac075. Oxford University Press 10.1210/jendso/bvac075
Wabitsch, Martin; Farooqi, Sadaf; Flück, Christa E; Bratina, Natasa; Mallya, Usha G; Stewart, Murray; Garrison, Jill; van den Akker, Erica; Kühnen, Peter (2022). Natural History of Obesity Due to POMC, PCSK1, and LEPR Deficiency and the Impact of Setmelanotide. Journal of the Endocrine Society, 6(6), bvac057. Oxford University Press 10.1210/jendso/bvac057
Sharma, Katyayani; Lanzilotto, Angelo; Pandey, Amit V (2022). Essential oil metabolites can regulate adrenal androgen production by inhibition of CYP17A1 activities. FASEB journal, 36(S1) Federation of American Societies for Experimental Biology 10.1096/fasebj.2022.36.S1.R5889
Troger, Tobias; Sommer, Grit; Lang-Muritano, Mariarosaria; Konrad, Daniel; Kuhlmann, Beatrice; Zumsteg, Urs; Flück, Christa E. (2022). Characteristics of growth in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency during adrenarche and beyond. The journal of clinical endocrinology and metabolism, 107(2), e487-e499. Oxford University Press 10.1210/clinem/dgab701
Claahsen-van der Grinten, Hedi L; Speiser, Phyllis W; Ahmed, S Faisal; Arlt, Wiebke; Auchus, Richard J; Falhammar, Henrik; Flück, Christa E; Guasti, Leonardo; Huebner, Angela; Kortmann, Barbara B M; Krone, Nils; Merke, Deborah P; Miller, Walter L; Nordenström, Anna; Reisch, Nicole; Sandberg, David E; Stikkelbroeck, Nike M M L; Touraine, Philippe; Utari, Agustini; Wudy, Stefan A; ... (2022). Congenital adrenal hyperplasia - current insights in pathophysiology, diagnostics and management. Endocrine reviews, 43(1), pp. 91-159. Oxford University Press 10.1210/endrev/bnab016
Boettcher, Claudia; Flück, Christa E. (2022). Rare forms of genetic steroidogenic defects affecting the gonads and adrenals. Best practice & research. Clinical endocrinology & metabolism, 36(1), p. 101593. Elsevier 10.1016/j.beem.2021.101593
Janner, Marco; Saner, Christoph (2022). Impact of Type 1 Diabetes Mellitus on Bone Health in Children. Hormone research in paediatrics, 95(3), pp. 205-214. Karger 10.1159/000521627
Korten, Insa; Kieninger, Elisabeth; Krueger, Linn; Bullo, Marina; Flück, Christa E; Latzin, Philipp; Casaulta, Carmen; Boettcher, Claudia (2022). Short-Term Effects of Elexacaftor/Tezacaftor/Ivacaftor Combination on Glucose Tolerance in Young People With Cystic Fibrosis—An Observational Pilot Study. Frontiers in Pediatrics, 10 Frontiers 10.3389/fped.2022.852551
Jorgens Prado, Mayara; Ligabue-Braun, Rodrigo; Zaha, Arnaldo; Rosa Rossetti, Maria Lucia; Pandey, Amit Vikram (2021). Meta analysis of variant predictions in congenital adrenal hyperplasia caused by mutations in CYP21A2. [Dataset].
Martinez de LaPiscina, Idoia; Flück, Christa E. (2021). Genetics of human sexual development and related disorders. Current opinion in pediatrics, 33(6), pp. 556-563. Wolters Kluwer Health 10.1097/MOP.0000000000001066
Puder, Lia; Roth, Sophie; Krabusch, Philipp; Wiegand, Susanna; Opitz, Robert; Bald, Martin; Flück, Christa; Schulz, Esther; Voss, Egbert; Markó, Lajos; Linz, Peter; Berger, Felix; Müller, Dominik N; Kuehne, Titus; Litt, Michael J; Cone, Roger D; Kühnen, Peter; Kelm, Marcus (2021). Cardiac Phenotype and Tissue Sodium Content in Adolescents With Defects in the Melanocortin System. The journal of clinical endocrinology and metabolism, 106(9), pp. 2606-2616. Oxford University Press 10.1210/clinem/dgab368
Santi, Maristella; Flück Pandey, Christa E.; Hauschild, Michael; Kuhlmann, Beatrice; Kuehni, Claudia E.; Sommer, Grit (2021). Health behavior of women with Turner Syndrome. Acta paediatrica, 110(8), pp. 2424-2429. Wiley 10.1111/apa.15814
Poitou, Christine; Puder, Lia; Dubern, Beatrice; Krabusch, Philipp; Genser, Laurent; Wiegand, Susanna; Verkindt, Hélène; Köhn, Arvid; von Schwartzenberg, Reiner Jumpertz; Flück, Christa; Pattou, François; Laville, Martine; Kühnen, Peter; Clément, Karine (2021). Long-term outcomes of bariatric surgery in patients with bi-allelic mutations in the POMC, LEPR, and MC4R genes. Surgery for obesity and related diseases, 17(8), pp. 1449-1456. Elsevier 10.1016/j.soard.2021.04.020
Pignatti, Emanuele; Flück, Christa E. (2021). Adrenal cortex development and related disorders leading to adrenal insufficiency. Molecular and cellular endocrinology, 527, p. 111206. Elsevier Ireland 10.1016/j.mce.2021.111206
Santi, Maristella; Grafmüller, Stefanie; Zeino, Mazen; Cools, Martine; Van De Vijver, Koen; Trippel, Mafalda; Aliu, Nijas; Flück, Christa E (2021). Approach to the Virilizing Girl at Puberty. The Journal of clinical endocrinology and metabolism, 106(5), pp. 1530-1539. Oxford University Press 10.1210/clinem/dgaa948
Karahoda, Rona; Kallol, Sampada; Groessl, Michael; Ontsouka, Edgar; Anderle, Pascale; Fluck, Christa; Staud, Frantisek; Albrecht, Christiane (2021). Revisiting Steroidogenic Pathways in the Human Placenta and Primary Human Trophoblast Cells. International journal of molecular sciences, 22(4) MDPI 10.3390/ijms22041704
Calaminus, Gabriele; Baust, Katja; Berger, Claire; Byrne, Julianne; Binder, Harald; Casagranda, Leonie; Grabow, Desiree; Grootenhuis, Martha; Kaatsch, Peter; Kaiser, Melanie; Kepak, Tomas; Kepáková, Kateřina; Kremer, Leontien C M; Kruseova, Jarmila; Luks, Ales; Spix, Claudia; van den Berg, Marleen; van den Heuvel-Eibrink, Marry M M; van Dulmen-den Broeder, Eline; Kuonen, Rahel; ... (2021). Health-Related Quality of Life in European Childhood Cancer Survivors: Protocol for a Study Within PanCareLIFE. JMIR research protocols, 10(1), e21851. JMIR Publications 10.2196/21851
Ali, Salma R; Bryce, Jillian; Haghpanahan, Houra; Lewsey, James D; Tan, Li En; Atapattu, Navoda; Birkebaek, Niels H; Blankenstein, Oliver; Neumann, Uta; Balsamo, Antonio; Ortolano, Rita; Bonfig, Walter; Claahsen-van der Grinten, Hedi L; Cools, Martine; Costa, Eduardo Correa; Darendeliler, Feyza; Poyrazoglu, Sukran; Elsedfy, Heba; Finken, Martijn J J; Fluck, Christa E; ... (2021). Real World Estimates Of Adrenal Insufficiency Related Adverse Events In Children With Congenital Adrenal Hyperplasia. The journal of clinical endocrinology and metabolism, 106(1), e192-e203. Oxford University Press 10.1210/clinem/dgaa694
Hebenstreit, Doris; Ahmed, S Faisal; Krone, Nils; Krall, Christoph; Bryce, Jillian; Alvi, Sabah; Ortolano, Rita; Lima, Mario; Birkebaek, Niels; Bonfig, Walter; Claahsen van der Grinten, Hedi; Costa, Eduardo Correa; Poyrazoglu, Sukran; de Vries, Liat; Flück, Christa E.; Guran, Tulay; Bugrul, Fuat; Güven, Ayla; Iotova, Violeta; Koehler, Birgit; ... (2021). Surgical Practice in Girls with Congenital Adrenal Hyperplasia: An International Registry Study. Sexual development, 15(4), pp. 229-235. Karger 10.1159/000517055
Minger, M.; Sommer, G.; Mitter, V.; Purtschert, L.; von Wolff, M.; Kohl Schwartz, A. (2021). Childhood growth of singletons conceived following in vitro fertilization (IVF) - does gonadotropin-stimulation matter? Human reproduction, 36(Suppl 1), i487-i487. Oxford University Press 10.1093/humrep/deab130.767
Janner, Marco; Sommer, Grit; Groessl, Michael; Flück, Christa E. (2020). Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17β-Hydroxysteroid Dehydrogenase Activities. Journal of clinical endocrinology and metabolism, 105(12), e4439-e4451. Endocrine Society 10.1210/clinem/dgaa598
Audí, Laura; Bertelloni, Silvano; Flück, Christa E. (2020). Molecular Aspects of Sex Development in Mammals: New Insight for Practice. International journal of molecular sciences, 21(23) MDPI 10.3390/ijms21239146
Martínez de LaPiscina, Idoia; Mahmoud, Rana Aa; Sauter, Kay-Sara; Esteva, Isabel; Alonso, Milagros; Costa, Ines; Rial-Rodriguez, Jose Manuel; Rodríguez-Estévez, Amaia; Vela, Amaia; Castano, Luis; Flück, Christa E. (2020). Variants of STAR, AMH and ZFPM2/FOG2 May Contribute towards the Broad Phenotype Observed in 46,XY DSD Patients with Heterozygous Variants of NR5A1. International journal of molecular sciences, 21(22) MDPI 10.3390/ijms21228554
Illsinger, Sabine; Korenke, G Christoph; Boesch, Sylvia; Nocker, Michael; Karall, Daniela; Nuoffer, Jean M.; Laugwitz, Lucia; Mayr, Johannes A; Scholl-Bürgi, Sabine; Freisinger, Peter; Kowald, Tobias; Kölker, Stefan; Prokisch, Holger; Haack, Tobias B (2020). Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches. European journal of medical genetics, 63(11), p. 104046. Elsevier 10.1016/j.ejmg.2020.104046
Mayr, Fabian; Möller, Gabriele; Garscha, Ulrike; Fischer, Jana; Rodríguez Castaño, Patricia; Inderbinen, Silvia G.; Temml, Veronika; Waltenberger, Birgit; Schwaiger, Stefan; Hartmann, Rolf W.; Gege, Christian; Martens, Stefan; Odermatt, Alex; Pandey, Amit V.; Werz, Oliver; Adamski, Jerzy; Stuppner, Hermann; Schuster, Daniela (2020). Finding New Molecular Targets of Familiar Natural Products Using In Silico Target Prediction. International journal of molecular sciences, 21(19), p. 7102. MDPI 10.3390/ijms21197102
Kariyawasam, Dulanjalee; Peries, Marianne; Foissac, Frantz; Eymard-Duvernay, Sabrina; Tylleskär, Thorkild; Singata-Madliki, Mandisa; Kankasa, Chipepo; Meda, Nicolas; Tumwine, James; Mwiya, Mwiya; Engebretsen, Ingunn; Flück, Christa E.; Hartmann, Michaela F; Wudy, Stefan A; Hirt, Deborah; Treluyer, Jean Marc; Molès, Jean-Pierre; Blanche, Stéphane; Van De Perre, Philippe; Polak, Michel; ... (2020). Lopinavir-Ritonavir Impairs Adrenal Function in Infants. Clinical infectious diseases, 71(4), pp. 1030-1039. Oxford University Press 10.1093/cid/ciz888
Cohen, Michal; Pignatti, Emanuele; Dines, Monica; Mory, Adi; Ekhilevitch, Nina; Kolodny, Rachel; Flück, Christa E.; Tiosano, Dov (2020). In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant. International journal of molecular sciences, 21(16) MDPI 10.3390/ijms21165857
Parween, Shaheena; Rihs, Silvia; Flück, Christa E. (2020). Metformin inhibits the activation of melanocortin receptors 2 and 3 in vitro: A possible mechanism for its anti-androgenic and weight balancing effects in vivo? The journal of steroid biochemistry and molecular biology, 200, p. 105684. Elsevier 10.1016/j.jsbmb.2020.105684
Praveen, Valiyaparambil Pavithran; Ladjouze, Asmahane; Sauter, Kay-Sara; Pulickal, Annie; Katharopoulos, Efstathios; Trippel, Mafalda; Perren, Aurel; Pandey, Amit V; Flück, Christa E (2020). Novel CYP19A1 Mutations Extend the Genotype-Phenotype Correlation and Reveal the Impact on Ovarian Function. Journal of the Endocrine Society, 4(4), bvaa030. Oxford University Press 10.1210/jendso/bvaa030
Camats, Núria; Flück, Christa E; Audí, Laura (2020). Oligogenic Origin of Differences of Sex Development in Humans. International journal of molecular sciences, 21(5) MDPI 10.3390/ijms21051809
van der Straaten, Saskia; Springer, Alexander; Zecic, Aleksandra; Hebenstreit, Doris; Tonnhofer, Ursula; Gawlik, Aneta; Baumert, Malgorzata; Szeliga, Kamila; Debulpaep, Sara; Desloovere, An; Tack, Lloyd; Smets, Koen; Wasniewska, Malgorzata; Corica, Domenico; Calafiore, Mariarosa; Ljubicic, Marie Lindhardt; Busch, Alexander Siegfried; Juul, Anders; Nordenström, Anna; Sigurdsson, Jon; ... (2020). The External Genitalia Score (EGS): A European multicenter validation study. The journal of clinical endocrinology and metabolism, 105(3) Oxford University Press 10.1210/clinem/dgz142
Katharopoulos, Efstathios; Di Iorgi, Natascia; Fernandez-Alvarez, Paula; Pandey, Amit V.; Groessl, Michael; Dubey, Shraddha; Camats, Núria; Napoli, Flavia; Patti, Giuseppa; Lezzi, Marilea; Maghnie, Mohamad; Flück, Christa E. (2020). Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia. International journal of molecular sciences, 21(17), p. 6185. MDPI 10.3390/ijms21176185
Flück, Christa; Nordenström, Anna; Ahmed, S Faisal; Ali, Salma R; Berra, Marta; Hall, Joanne; Köhler, Birgit; Pasterski, Vickie; Robeva, Ralitsa; Schweizer, Katinka; Springer, Alexander; Westerveld, Puck; Hiort, Olaf; Cools, Martine (2019). Standardised data collection for clinical follow-up and assessment of outcomes in differences of sex development (DSD): recommendations from the COST action DSDnet. European journal of endocrinology, 181(5), pp. 545-564. European Society of Endocrinology 10.1530/EJE-19-0363
Ljubicic, Marie Lindhardt; Jørgensen, Anne; Acerini, Carlo; Andrade, Juliana; Balsamo, Antonio; Bertelloni, Silvano; Cools, Martine; Cuccaro, Rieko Tadokoro; Darendeliler, Feyza; Flück, Christa E; Grinspon, Romina P; Maciel-Guerra, Andrea; Guran, Tulay; Hannema, Sabine E; Lucas-Herald, Angela K; Hiort, Olaf; Holterhus, Paul Martin; Lichiardopol, Corina; Looijenga, Leendert H J; Ortolano, Rita; ... (2019). Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis. The journal of clinical endocrinology and metabolism, 104(10), pp. 4366-4381. Oxford University Press 10.1210/jc.2018-02752
Sommer, Grit; Schindler, Matthias; Redmond, Shelagh; Pfeiffer, Verena; Konstantinoudis, Garyfallos; Ammann, Roland A; Ansari, Marc; Hengartner, Heinz; Michel, Gisela; Kuehni, Claudia E (2019). Temporal trends in incidence of childhood cancer in Switzerland, 1985-2014. Cancer epidemiology, 61, pp. 157-164. Elsevier 10.1016/j.canep.2019.06.002
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
Bileck, Andrea; Flück Pandey, Christa Emma; Dhayat, Nasser; Grössl, Michael (2019). How high-resolution techniques enable reliable steroid identification and quantification. Journal of steroid biochemistry and molecular biology, 186, pp. 74-78. Elsevier 10.1016/j.jsbmb.2018.09.018
Sommer, Grit; Konrad, Daniel; Kuhlmann, Beatrice; L'Allemand, Dagmar; Phan-Hug, Franziska; Hauschild, Michael; Schwitzgebel, Valerie; Tonella, Paolo; Hess, Melanie; Zumsteg, Urs; Lauber-Biason, Anna; Flück, Christa E (2018). [Enfants et adolescents avec variations du développement sexuel]. Swiss Medical Forum, 18(42), pp. 858-864. EMH Swiss Medical Publishers 10.4414/smf.2018.03378
Dhayat, Nasser; Marti, Nesa Magdalena; Kollmann, Zahraa; Bally, Lia; Escher, Geneviève; Grössl, Michael; Ackermann, Daniel; Mueller, Michael; Vogt, Bruno; Birkhäuser, Martin; Flück Pandey, Christa Emma (2018). Urinary steroid profiling in women hints at a diagnostic signature of the polycystic ovary syndrome: A pilot study considering neglected steroid metabolites. PLoS ONE, 13(10), e0203903. Public Library of Science 10.1371/journal.pone.0203903
Camats Tarruella, Núria; Fernández-Cancio, Mónica; Audí, Laura; Schaller, André; Flück Pandey, Christa Emma (2018). Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin? European journal of human genetics, 26(9), pp. 1329-1338. Nature Publishing Group 10.1038/s41431-018-0202-7
Dhayat, Nasser; Frey, Brigitte; Frey, Brigitte; d'Uscio, Claudia Henriette; Vogt, Bruno; Dick, Bernhard; Flück Pandey, Christa Emma (2018). Corrigendum to “Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: Tracing the complexity of human postnatal steroidogenesis”. Journal of steroid biochemistry and molecular biology, 183, p. 238. Elsevier 10.1016/j.jsbmb.2018.08.005
Xu, Cheng; Cassatella, Daniele; van der Sloot, Almer M; Quinton, Richard; Hauschild, Michael; De Geyter, Christian; Flück Pandey, Christa Emma; Feller, Katrin Madeleine; Bartholdi, Deborah; Nemeth, Attila; Halperin, Irene; Pekic Djurdjevic, Sandra; Maeder, Philippe; Papadakis, Georgios; Dwyer, Andrew A; Marino, Laura; Favre, Lucie; Pignatelli, Duarte; Niederländer, Nicolas J; Acierno, James; ... (2018). Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants. Genetics in medicine, 20(8), pp. 872-881. Palgrave Macmillan 10.1038/gim.2017.197
Cantuaria, Manuella Lech; Usemann, Jakob; Proietti, Elena; Blanes-Vidal, Victoria; Dick, Bernhard; Flück Pandey, Christa Emma; Rüedi, Simone; Héritier, Harris; Wunderli, Jean-Marc; Latzin, Philipp; Frey, Urs; Röösli, Martin; Vienneau, Danielle (2018). Glucocorticoid metabolites in newborns: A marker for traffic noise related stress? Environment International, 117, pp. 319-326. Elsevier 10.1016/j.envint.2018.05.002
Pandey, Amit Vikram; Henderson, Colin J.; Ishii, Yuji; Kranendonk, Michel; Backes, Wayne L.; Zanger, Ulrich M. (eds.) (2018). Role of Protein-Protein Interactions in Metabolism: Genetics, Structure, Function. Frontiers in Pharmacology. Lausanne: Frontiers Media 10.3389/978-2-88945-385-6
Marti, Nesa Magdalena; Malikova, Jana; Galván Hernández, José Alberto; Aebischer, Maude; Janner, Marco; Sumnik, Zdenek; Obermannova, Barbora; Escher, Geneviève; Perren, Aurel; Flück Pandey, Christa Emma (2017). Androgen production in pediatric adrenocortical tumors may occur via both the classic and/or the alternative backdoor pathway. Molecular and cellular endocrinology, 452, pp. 64-73. Elsevier Ireland 10.1016/j.mce.2017.05.014
Flück, Christa E. (2017). Mechanisms in endocrinology: Update on pathogenesis of primary adrenal insufficiency: beyond steroid enzyme deficiency and autoimmune adrenal destruction. European journal of endocrinology, 177(3), R99-R111. BioScientifica Ltd. 10.1530/EJE-17-0128
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
Flück Pandey, Christa Emma; Pandey, Amit Vikram (2017). Testicular Steroidogenesis. In: Simoni, Manuela; Huhtaniemi, Ilpo T (eds.) Endocrinology of the Testis and Male Reproduction. Endocrinology (pp. 1-29). Cham: Springer International Publishing 10.1007/978-3-319-29456-8_10-1
Pandey, Amit V.; Udhane, Sameer S.; Parween, Shaheena; Kagawa, Norio (April 2017). Altered CYP19A1 and CYP3A4 Activities Due to Mutations in the Flavin Mononucleotide Binding Domain of Human P450 Oxidoreductase. FASEB journal, 31(S1), 669.6-669.6. Federation of American Societies for Experimental Biology
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. Analyst, 142(3), pp. 465-471. Royal Society of Chemistry 10.1039/c6an02195f
Miletta, Maria Consolata; Flück, Christa Emma; Mullis, Primus-Eugen (2017). Targeting GH-1 splicing as a novel pharmacological strategy for growth hormone deficiency type II. Biochemical pharmacology, 124, pp. 1-9. Elsevier 10.1016/j.bcp.2016.07.016
Marti, Nesa Magdalena; Bouchoucha, Nadia; Sauter, Kay-Sara; Flück, Christa E (2017). Resveratrol inhibits androgen production of human adrenocortical H295R cells by lowering CYP17 and CYP21 expression and activities. PLoS ONE, 12(3), e0174224. Public Library of Science 10.1371/journal.pone.0174224
Dhayat, Nasser; Dick, Bernhard; Frey, Brigitte; d'Uscio, Claudia Henriette; Vogt, Bruno; Flück, Christa Emma (2017). Androgen biosynthesis during minipuberty favors the backdoor pathway over the classic pathway: insights into enzyme activities and steroid fluxes in healthy infants during the first year of life from the urinary steroid metabolome. Journal of steroid biochemistry and molecular biology, 165(Pt B), pp. 312-322. Elsevier 10.1016/j.jsbmb.2016.07.009
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
Miletta, Maria Consolata; Petkovic, Vibor; Eblé, Andrée; Flück, Christa Emma; Mullis, Primus-Eugen (2016). Rescue of Isolated GH Deficiency Type II (IGHD II) via Pharmacologic Modulation of GH-1 Splicing. Endocrinology, 157(10), pp. 3972-3982. Oxford University Press 10.1210/en.2015-2038
Saner, Christoph; Simonetti, Giacomo; Wühl, Elke; Mullis, Primus-Eugen; Janner, Marco (2016). Circadian and ultradian cardiovascular rhythmicity in obese children. European journal of pediatrics, 175(8), pp. 1031-1038. Springer 10.1007/s00431-016-2736-4
Pandey, Amit Vikram; Udhane, Sameer Sopanrao (1 April 2016). Effect of CYP17A1 17, 20 Lyase Inhibitors on Regulation of Adrenal Androgen Biosynthesis. FASEB journal, 30(Suppl. 1). Federation of American Societies for Experimental Biology
De Schepper, Jean; Vanderfaeillie, Johan; Mullis, Primus-Eugen; Rooman, Raoul; Robertson, Anna; Dilleen, Maria; Gomez, Roy; Wollmann, Hartmut A (2016). A 2-year multicentre, open-label, randomized, controlled study of growth hormone (Genotropin(®) ) treatment in very young children born small for gestational age: Early Growth and Neurodevelopment (EGN) Study. Clinical endocrinology, 84(3), pp. 353-360. Blackwell Scientific Publications 10.1111/cen.12968
Udhane, Sameer Sopanrao; Flück, Christa Emma (2016). Regulation of human (adrenal) androgen biosynthesis-New insights from novel throughput technology studies. Biochemical pharmacology, 102, pp. 20-33. Elsevier 10.1016/j.bcp.2015.10.010
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
Stranzinger, Enno; Scherer, Cordula; Pabst, Werner Lukas; Schuster, Frederick; Flück, Christa Emma (2016). Unilateral Stimulation of the Right Ovary in a 10-Year-Old Girl with Perforated Appendicitis. Ultrasound international open, 02(03), E102-E104. Thieme 10.1055/s-0042-110658
Probst-Scheidegger, Ursina; Udhane, Sameer S; l'Allemand, Dagmar; Flück, Christa Emma; Camats Tarruella, Núria (2016). Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation. Sexual development, 10(4), pp. 200-204. Karger 10.1159/000448724
Udhane, Sameer S; Parween, Shaheena; Pandey, Amit Vikram (2016). Aromatase Activity is Disrupted by Mutations in P450 Oxidoreductase. Hormone research in paediatrics, 86(Suppl. 1), p. 267. Karger 10.1159/000449142
Burckhardt, Marie-Anne; Udhane, Sameer Sopanrao; Marti, Nesa Magdalena; Schnyder, Isabelle; Tapia, Coya; Nielsen, John E; Mullis, Primus-Eugen; Rajpert-De Meyts, Ewa; Flück, Christa Emma (2015). Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature. European journal of endocrinology, 173(5), K1-K12. BioScientifica Ltd. 10.1530/EJE-15-0599
Camats Tarruella, Núria; Üstyol, Ala; Atabek, Mehmet Emre; Dick, Bernhard; Flück, Christa Emma (2015). A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene. Clinical case reports, 3(10), pp. 793-797. Wiley 10.1002/ccr3.343
Udhane, Sameer S; Pandey, Amit Vikram (1 September 2015). Effect of CYP17A1 Inhibitors Orteronel and Galeterone on Adrenal Androgen Biosynthesis (Unpublished). In: Annual Meeting of European Society for Paediatric Endocrinology ESPE.
Dhayat, Nasser A; Frey, Andrea E; Frey, Brigitte M; d'Uscio, Claudia Henriette; Vogt, Bruno; Rousson, Valentin; Dick, Bernhard; Flück, Christa E (2015). Estimation of reference curves for the urinary steroid metabolome in the first year of life in healthy children: tracing the complexity of human postnatal steroidogenesis. Journal of steroid biochemistry and molecular biology, 154, pp. 226-236. Elsevier 10.1016/j.jsbmb.2015.07.024
Mansour-Hendili, Lamisse; Blanchard, Anne; Le Pottier, Nelly; Roncelin, Isabelle; Lourdel, Stéphane; Treard, Cyrielle; González, Wendy; Vergara-Jaque, Ariela; Morin, Gilles; Colin, Estelle; Holder-Espinasse, Muriel; Bacchetta, Justine; Baudouin, Véronique; Benoit, Stéphane; Bérard, Etienne; Bourdat-Michel, Guylhène; Bouchireb, Karim; Burtey, Stéphane; Cailliez, Mathilde; Cardon, Gérard; ... (2015). Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1. Human mutation, 36(8), pp. 743-752. Wiley-Blackwell 10.1002/humu.22804
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
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
Pandey, Amit Vikram; Flück Pandey, Christa Emma (1 April 2015). Altered Drug and Steroid Metabolism by Mutations in Human NADPH Cytochrome P450 Reductase. FASEB journal, 29(Suppl 1), p. 522. Federation of American Societies for Experimental Biology
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
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
Saner, Christoph; Simonetti, Giacomo; Wühl, Elke; Mullis, Primus-Eugen; Janner, Marco (2015). Increased ambulatory arterial stiffness index in obese children. Atherosclerosis, 238(2), pp. 185-189. Elsevier 10.1016/j.atherosclerosis.2014.12.009
Burckhardt, Marie-Anne; Obmann, Verena Carola; Wolf, Rainer Walter; Janner, Marco; Flück, Christa E; Mullis, Primus-Eugen (2015). Ovarian and uterine development and hormonal feedback mechanism in a 46 XX patient with CYP19A1 deficiency under low dose estrogen replacement. Gynecological endocrinology, 31(5), pp. 349-354. Informa Healthcare 10.3109/09513590.2014.995619
Kempna, Petra; Marti, Nesa Magdalena; Udhane, Sameer Sopanrao; Flück, Christa (2015). Regulation of androgen biosynthesis - A short review and preliminary results from the hyperandrogenic starvation NCI-H295R cell model. Molecular and cellular endocrinology, 408, pp. 124-132. Elsevier Ireland 10.1016/j.mce.2014.12.015
Camats Tarruella, Núria; Fernández-Cancio, Mónica; Audí, Laura; Mullis, Primus-Eugen; Moreno, Francisca; González Casado, Isabel; López-Siguero, Juan Pedro; Corripio, Raquel; Bermúdez de la Vega, José Antonio; Blanco, José Antonio; Flück, Christa Emma (2015). Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype. PLoS ONE, 10(11), e0142831. Public Library of Science 10.1371/journal.pone.0142831
Camats Tarruella, Núria; Audí, Laura; Fernández-Cancio, Mónica; Andaluz, Pilar; Mullis, Primus-Eugen; Carrascosa, Antonio; Flück, Christa Emma (2015). LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study. Sexual development, 9(3), pp. 144-154. Karger 10.1159/000381575
Deillon, Eva; Hauschild, Michael; Faouzi, Mohamed; Stoppa-Vaucher, Sophie; Elowe-Gruau, Eglantine; Dwyer, Andrew; Theintz, Gerald E; Dubuis, Jean-Michel; Mullis, Primus-Eugen; Pitteloud, Nelly; Phan-Hug, Franziska (2015). Natural history of growth hormone deficiency in a pediatric cohort. Hormone research in paediatrics, 83(4), pp. 252-261. Karger 10.1159/000369392
Flück, Christa; Pandey, Amit Vikram (2014). P450 oxidoreductase deficiency (PORD). In: New, Maria I.; Lekarev, Oksana; Parsa, Alan; Yuen, Tony; O'Malley, Bert; Hammer, Gary (eds.) Genetic steroid disorders (pp. 125-143). Elsevier 10.1016/B978-0-12-416006-4.00010-7
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
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
Tschan, Franziska; Huguenin, M; Seelandt, JC; Semmer, Norbert; Keller, S; Nuoffer, Jean-Marc; Candinas, Daniel; Beldi, Guido (May 2014). Teamwork reduces physiological stress in junior surgeons. British journal of surgery, 101(S5), p. 8. John Wright & Sons
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
von Wolff, Michael; Kollmann, Zahraa; Flück, Christa E.; Stute, Petra; Marti, U.; Weiss, B.; Bersinger, Nick A. (2014). Gonadotrophin stimulation for in vitro fertilization significantly alters the hormone milieu in follicular fluid: a comparative study between natural cycle IVF and conventional IVF. Human reproduction, 29(5), pp. 1049-1057. Oxford University Press 10.1093/humrep/deu044
Pagani, Sara; Petkovic, Vibor; Messini, Beatrice; Meazza, Cristina; Bozzola, Elena; Mullis, Primus-Eugen; Bozzola, Mauro (2014). Heterozygous GHR gene mutation in a child with idiopathic short stature. Journal of pediatric endocrinology & metabolism, 27(3-4), pp. 329-334. De Gruyter 10.1515/jpem-2013-0359
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
Miletta, Maria Consolata; Petkovic, Vibor; Eblé, Andrée; Ammann, Roland; Flück, Christa; Mullis, Primus-Eugen (2014). Butyrate increases intracellular calcium levels and enhances growth hormone release from rat anterior pituitary cells via the G-protein-coupled receptors GPR41 and 43. PLoS ONE, 9(10), e107388. Public Library of Science 10.1371/journal.pone.0107388
Petkovic, Vibor; Miletta, Maria Consolata; Eblé, Andrée; Flück, Christa; Mullis, Primus-Eugen (2014). Alteration of ZnT5-mediated zinc import into the early secretory pathway affects the secretion of growth hormone from rat pituitary cells. Hormone research in paediatrics, 82(4), pp. 245-251. Karger 10.1159/000365924
Malikova, Jana; Camats Tarruella, Núria; Fernández-Cancio, Mónica; Heath, Karen; González, Isabel; Caimarí, María; del Campo, Miguel; Albisu, Marian; Kolouskova, Stanislava; Audí, Laura; Flück, Christa (2014). Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis. PLoS ONE, 9(8), e104838. Public Library of Science 10.1371/journal.pone.0104838
Malikova, Jana; Flück, Christa (2014). Novel insight into etiology, diagnosis and management of primary adrenal insufficiency. Hormone research in paediatrics, 82(3), pp. 145-157. Karger 10.1159/000363107
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
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
Biason-Lauber, Anna; Pandey, Amit Vikram; Miller, Walter L.; Flück, Christa (2013). Marsupial pathway in humans. In: New, Maria I.; Lekarev, Oksana; Parsa, Alan; Yuen, Tony; O'Malley, Bert; Hammer, Gary (eds.) Genetic steroid disorders (pp. 215-224). New York: Elsevier 10.1016/B978-0-12-416006-4.00015-6
Petkovic, Vibor; Miletta, Maria Consolata; Eblé, Andrée; Iliev, Daniel I.; Binder, Gerhard; Flück, Christa; Mullis, Primus-Eugen (2013). Effect of zinc binding residues in growth hormone (GH) and altered intracellular zinc content on regulated GH secretion. Endocrinology, 154(11), pp. 4215-4225. Endocrine Society 10.1210/en.2013-1089
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
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 10.1007/s10545-013-9624-0
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
Miletta, Maria Consolata; Schöni, Martin Heinrich; Kernland Lang, Kristin Helene; Mullis, Primus-Eugen; Petkovic, Vibor (2013). The role of zinc dynamics in growth hormone secretion. Hormone research in paediatrics, 80(6), pp. 381-389. Karger 10.1159/000355408
Miletta, Maria Consolata; Bieri, Andreas; Kernland Lang, Kristin Helene; Schöni, Martin Heinrich; Petkovic, Vibor; Flück, Christa; Eblé, Andrée; Mullis, Primus-Eugen (2013). Transient Neonatal Zinc Deficiency Caused by a Heterozygous G87R Mutation in the Zinc Transporter ZnT-2 (SLC30A2) Gene in the Mother Highlighting the Importance of Zn (2+) for Normal Growth and Development. International journal of endocrinology, 2013, p. 259189. Hindawi 10.1155/2013/259189
Udhane, Sameer Sopanrao; Kempna, Petra; Hofer, Gaby; Mullis, Primus E.; Flück, Christa (2013). Differential regulation of human 3β-hydroxysteroid dehydrogenase type 2 for steroid hormone biosynthesis by starvation and cyclic AMP stimulation: studies in the human adrenal NCI-H295R cell model. PLoS ONE, 8(7), e68691. Public Library of Science 10.1371/journal.pone.0068691
Bieri, Andreas; Oser-Meier, Monika; Janner, Marco; Cripe-Mamie, Chantal; Pipczynski-Suter, Kathrin; Mullis, Primus-Eugen; Flück, Christa E. (2013). Children's and adolescent's self - assessment of metabolic control versus professional judgment: a cross-sectional retrospective and prospective cohort study. International journal of pediatric endocrinology, 2013(1), p. 21. BioMed Central 10.1186/1687-9856-2013-21
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
Petkovic, Vibor; Godi, Michela; Lochmatter, Didier; Eblé, Andrée; Flück, Christa E; Robinson, Iain C; Mullis, Primus E (2010). Growth hormone (GH)-releasing hormone increases the expression of the dominant-negative GH isoform in cases of isolated GH deficiency due to GH splice-site mutations. Endocrinology, 151(6), pp. 2650-8. Chevy Chase, Md.: Endocrine Society 10.1210/en.2009-1280
Janner, Marco; Ballinari, Pietro; Mullis, Primus E.; Flueck, Christa E. (2010). High prevalence of vitamin D deficiency in children and adolescents with type 1 diabetes. Swiss medical weekly, 140, w13091. Muttenz: EMH Schweizerischer Ärzteverlag 10.4414/smw.2010.13091
Lochmatter, Didier; Strom, Molly; Eblé, André; Petkovic, Vibor; Flück, Christa E; Bidlingmaier, Martin; Robinson, Iain C; Mullis, Primus E (2010). Isolated GH deficiency type II: knockdown of the harmful Delta3GH recovers wt-GH secretion in rat tumor pituitary cells. Endocrinology, 151(9), pp. 4400-9. Chevy Chase, Md.: Endocrine Society 10.1210/en.2010-0196
Kempna, Petra; Ricciarelli, Roberta; Azzi, Angelo; Zingg, Jean-Marc (2010). Alternative splicing and gene polymorphism of the human TAP3/SEC14L4 gene. Molecular biology reports, 37(7), pp. 3503-3508. Springer 10.1007/s11033-009-9943-2
Räz, Barbara; Janner, Marco; Petkovic, Vibor; Lochmatter, Didier; Eblé, Andrée; Dattani, Mehul T.; Hindmarsh, Peter C.; Flück, Christa E.; Mullis, Primus E. (2008). Influence of growth hormone (GH) receptor deletion of exon 3 and full-length isoforms on GH response and final height in patients with severe GH deficiency. Journal of clinical endocrinology and metabolism, 93(3), pp. 974-980. Chevy Chase, Md.: Endocrine Society 10.1210/jc.2007-1382
Miller, Walter L.; Huang, Ningwu; Pandey, Amit Vikram; Flück, Christa E.; Agrawal, Vishal (2005). P450 oxidoreductase deficiency: a new disorder of steroidogenesis. Annals of the New York Academy of Sciences, 1061(1), pp. 100-108. Blackwell 10.1196/annals.1336.012
Flück, Christa E.; Maret, Alexander; Mallet, Delphine; Portrat-Doyen, Stéphanie; Achermann, John C.; Leheup, Bruno; Theintz, Gérald E.; Mullis, Primus-Eugen; Morel, Yves (2005). A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia. Journal of clinical endocrinology and metabolism, 90(9), pp. 5304-5308. Endocrine Society 10.1210/jc.2005-0874
Flück, Christa; Mullis, Primus-Eugen (2005). The diabetic child in the emergency room. Therapeutische Umschau, 62(8), pp. 571-576. Huber
Schnyder, Sabine; Mullis, Primus E.; Ellard, Sian; Hattersley, Andrew T.; Flück, Christa E. (2005). Genetic testing for glucokinase mutations in clinically selected patients with MODY: a worthwhile investment. Swiss medical weekly, 135(23-24), pp. 352-356. EMH Schweizerischer Ärzteverlag
Besson, Amélie; Salemi, Souzan; Deladoëy, Johnny; Vuissoz, Jean-Marc; Eblé, Andrée; Bidlingmaier, Martin; Bürgi, Sibylle; Honegger, Ulrich; Flück, Christa; Mullis, Primus-Eugen (2005). Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). The Journal of clinical endocrinology and metabolism, 90(5), pp. 2493-2499. The Endocrine Society 10.1210/jc.2004-1838
Flück, Christa E.; Yaworsky, Dustin C.; Miller, Walter L. (2005). Effects of anticonvulsants on human p450c17 (17alpha-hydroxylase/17,20 lyase) and 3beta-hydroxysteroid dehydrogenase type 2. Epilepsia, 46(3), pp. 444-448. Wiley-Blackwell 10.1111/j.0013-9580.2005.38404.x
Flück, Christa; Yaworski, D.; Miller, W. L. (2004). Effect of anticonvulsants on activities of P450c17 and 3betaHSDII. Endocrine research, 30(4), pp. 955-956. Informa Healthcare
Flück, Christa; Miller, Walter L. (2004). GATA-4 and GATA-6 modulate tissue-specific transcription of the human gene for P450c17 by direct interaction with Sp1. Molecular endocrinology, 18(5), pp. 1144-1157. Endocrine Society 10.1210/me.2003-0342
Flück, Christa; Miller, Walter L.; Auchus, Richard J. (2003). The 17, 20-lyase activity of cytochrome p450c17 from human fetal testis favors the delta5 steroidogenic pathway. Journal of clinical endocrinology and metabolism, 88(8), pp. 3762-3766. Endocrine Society 10.1210/jc.2003-030143
Flück, Christa; Martens, John W. M.; Conte, Felix A.; Miller, Walter L. (2002). Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay. Journal of clinical endocrinology and metabolism, 87(9), pp. 4318-4323. Endocrine Society 10.1210/jc.2002-020501
Flück, Christa; Deladoëy, Johnny; Nayak, S.; Zeller, O.; Kopp, P.; Mullis, Primus-Eugen (2001). Autosomal dominant neurohypophyseal diabetes insipidus in a Swiss family, caused by a novel mutation (C59Delta/A60W) in the neurophysin moiety of prepro-vasopressin-neurophysin II (AVP-NP II). European journal of endocrinology, 145(4), pp. 439-444. BioScientifica Ltd.
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
Flück, Christa; Kuhlmann, B. V.; Mullis, Primus-Eugen (1999). Metabolic control in children and adolescents with diabetes mellitus type I in Berne: a cross-sectional study. Schweizerische medizinische Wochenschrift, 129(44), pp. 1650-1655. B. Schwabe & Co.
Deladoëy, Johnny; Flück, Christa; Bex, M.; Yoshimura, N.; Harada, N.; Mullis, Primus-Eugen (1999). Aromatase deficiency caused by a novel P450arom gene mutation: impact of absent estrogen production on serum gonadotropin concentration in a boy. The Journal of clinical endocrinology and metabolism, 84(11), pp. 4050-4054. The Endocrine Society 10.1210/jcem.84.11.6135
Flück, Christa; Kuhlmann, B V; Mullis, Primus-Eugen (1999). Insulin increases serum leptin concentrations in children and adolescents with newly diagnosed type I diabetes mellitus with and without ketoacidosis. Diabetologia, 42(9), pp. 1067-1070. Springer 10.1007/s001250051272
Deladoëy, Johnny; Flück, Christa; Büyükgebiz, A.; Kuhlmann, B. V.; Eblé, Andrée; Hindmarsh, P. C.; Wu, W.; Mullis, Primus-Eugen (1999). "Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency. The Journal of clinical endocrinology and metabolism, 84(5), pp. 1645-1650. The Endocrine Society 10.1210/jcem.84.5.5681
Flück, Christa; Deladoey, J.; Rutishauser, K.; Eblé, A.; Marti, U.; Wu, W.; Mullis, P. E. (1998). Phenotypic variability in familial combined pituitary hormone deficiency caused by a PROP1 gene mutation resulting in the substitution of Arg-->Cys at codon 120 (R120C). Journal of clinical endocrinology and metabolism, 83(10), pp. 3727-3734. Endocrine Society 10.1210/jcem.83.10.5172
Janner, M.; Knill, S. E.; Diem, P.; Zuppinger, K. A.; Mullis, P. E. (1994). Persistent microalbuminuria in adolescents with type I (insulin-dependent) diabetes mellitus is associated to early rather than late puberty. Results of a prospective longitudinal study. European journal of pediatrics, 153(6), pp. 403-408. Berlin: Springer 10.1007/s004310050162
Mühlbauer, R. C.; Bauss, F.; Schenk, R.; Janner, M.; Bosies, E.; Strein, K.; Fleisch, H. (1991). BM 21.0955, a potent new bisphosphonate to inhibit bone resorption. Journal of bone and mineral research, 6(9), pp. 1003-1011. Wiley-Blackwell
