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by Leboeuf, C and Wilk, S and Achermann, R and Binet, I and Golshayan, D and Hadaya, K and Hirzel, C and Hoffmann, M and Huynh‐Do, U and Koller, M. T and Manuel, O and Mueller, N. J and Mueller, T. F and Schaub, S and Delden, C and Weissbach, F. H and Hirsch, H. H and Amico, Patrizia and Aubert, John‐David and Banz, Vanessa and Beldi, Guido and Benden, Christian and Berger, Christoph and Bochud, Pierre‐Yves and Bucher, Heiner and Bühler, Leo and Carell, Thierry and Catana, Emmanuelle and Chalandon, Yves and Geest, Sabina and Rougemont, Olivier and Dickenmann, Michael and Duchosal, Michel and Elkrief, Laure and Fehr, Thomas and Ferrari‐Lacraz, Sylvie and Garzoni, Christian and Soccal, Paola Gasche and Gaudet, Christophe and Giostra, Emiliano and Halter, Jörg and Heim, Dominik and Hess, Christoph and Hillinger, Sven and Hofbauer, Günther and Immer, Franz and Klaghofer, Richard and Laesser, Bettina and Lehmann, Roger and Lovis, Christian and Marti, Hans‐Peter and Martin, Pierre Yves and Meylan, Pascal and Mohacsi, Paul and Morel, Philippe and Mueller, Ulrike and Mueller‐McKenna, Helen and Müller, Antonia and Müller, Thomas and Müllhaupt, Beat and Nadal, David and Pascual, Manuel and Passweg, Jakob and Rick, Juliane and Roosnek, Eddy and Rosselet, Anne and Rothlin, Silvia and Ruschitzka, Frank and Schanz, Urs and Schnyder, Aurelia and Seiler, Christian and Stampf, Susanne and Steiger, Jürg and Stirnimann, Guido and Toso, Christian and Venetz, Jean‐Pierre and Villard, Jean and Wick, Madeleine and Wilhelm, Markus and Yerly, Patrick and Swiss Transplant Cohort Study and the Swiss Transplant Cohort Study
American Journal of Transplantation, ISSN 1600-6135, 10/2017, Volume 17, Issue 10, pp. 2591 - 2600
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2012, Volume 44, Issue 7, pp. 788 - 792
IMAGe syndrome (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies) is an undergrowth developmental... 
BECKWITH-WIEDEMANN-SYNDROME | GENE | UBIQUITIN | SEQUENCE | GENETICS & HEREDITY | DEPENDENT KINASE INHIBITOR | ADRENAL HYPOPLASIA | INHERITANCE | ASSOCIATION | P57(KIP2) | FAMILY | Cyclin-Dependent Kinase Inhibitor p57 - metabolism | Hypoadrenocorticism, Familial | Protein Binding - genetics | Cyclin-Dependent Kinase Inhibitor p57 - genetics | Exons | Humans | Fetal Growth Retardation - genetics | Male | Adrenal Hyperplasia, Congenital - genetics | Genetic Loci | Beckwith-Wiedemann Syndrome - genetics | Osteochondrodysplasias - genetics | Proliferating Cell Nuclear Antigen - genetics | HEK293 Cells | Female | Genetic Diseases, X-Linked - genetics | Genetic Predisposition to Disease | Drosophila | Adrenal Hyperplasia, Congenital - metabolism | Fetal Growth Retardation - metabolism | Protein Structure, Tertiary - genetics | Beckwith-Wiedemann Syndrome - metabolism | Genetic Diseases, X-Linked - metabolism | Adrenal Insufficiency | Animals | Chromosomes, Human, Pair 11 | Mutation | Proliferating Cell Nuclear Antigen - metabolism | Cell Line, Transformed | Osteochondrodysplasias - metabolism | Gene mutations | Fetus | Genetic aspects | Research | Health aspects | Growth retardation | Risk factors | Genes | Genomes | Experiments | Proteins | Design | Insects | Genetics | Genetic testing | Charitable foundations | Bioinformatics | Binding sites | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 03/2005, Volume 90, Issue 3, pp. 1849 - 1855
Journal Article
JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 09/2006, Volume 116, Issue 9, pp. 2442 - 2455
The transcription factor SOX2 is expressed most notably in the developing CNS and placodes, where it plays critical roles in embryogenesis. Heterozygous de... 
NUCLEAR-LOCALIZATION | MEDICINE, RESEARCH & EXPERIMENTAL | ESOPHAGEAL ATRESIA | SEX REVERSAL | GENE | SOX2 CAUSE ANOPHTHALMIA | MESSENGER-RNA DECAY | SRY | BILATERAL ANOPHTHALMIA | MOLECULAR-BASIS | GROWTH-HORMONE DEFICIENCY
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 01/2016, Volume 101, Issue 1, pp. 284 - 292
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 05/2017, Volume 127, Issue 5, pp. 1700 - 1713
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 01/2008, Volume 29, Issue 1, pp. 59 - 64
Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the... 
ENDOCRINE DEVELOPMENT | STEROIDOGENIC FACTOR-I | HAPLOINSUFFICIENCY | NR5A1 | GLY146ALA POLYMORPHISM | male pseuclohermaphroditism | XY SEX REVERSAL | GENE | gonadal dysgenesis | disorders of sex development (DSD) | GENETICS & HEREDITY | nuclear receptor | steroiclogenic factor-1 | MICE | EXPRESSION | GONADAL DEVELOPMENT | SF1
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 03/2017, Volume 127, Issue 3, pp. 942 - 953
Journal Article