المؤلفون: Norling, Ameli

مصطلحات موضوعية: 46, XY Disorders of Sex Development -- diagnosis, 46, XY Disorders of Sex Development -- genetics, 46, XX Disorders of Sex Development -- x diagnosis, 46, XX Disorders of Sex Development -- genetics, Gonadal Dysgenesis, 46,XY -- diagnosis, Gonadal Dysgenesis, 46,XY -- genetics, Primary Ovarian Insufficiency -- diagnosis, Primary Ovarian Insufficiency -- genetics, Mutation -- genetics, Genetic Association Studies

Degree: Diss. (sammanfattning) Stockholm : Karolinska Institutet, 2014

المؤلفون: Caroline Eozenou, David Rodriguez-Buritica, Zita Halász, Jean-Pierre Siffroi, Joelle Bignon-Topalovic, Anne Jorgensen, Sophie Lambert, Rajpert-De Meyts E, János Sólyom, Anu Bashamboo, Ken McElreavey, Paye-Jaouen A, Rita Bertalan, Attila Tar, Capucine Hyon, John C. Achermann, Peter Nagy, Laetitia Martinerie

المساهمون: Génétique du développement humain, Institut Pasteur [Paris], Department of Growth and Reproduction [Rigshospitalet], Rigshospitalet [Copenhagen], Copenhagen University Hospital-Copenhagen University Hospital, CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Pál Heim Children's Hospital = Heim Pál Gyermekkórház [Budapest], First Department of Pathology and Experimental Cancer Research, Semmelweis University [Budapest], Chirurgie viscérale et urologie pédiatriques [AP-HP Robert Debré], AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Endocrinologie et Diabétologie Pédiatriques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, McGovern Medical School [Houston, Texas], The University of Texas Health Science Center at Houston (UTHealth), Copenhagen University Hospital, Institute of Child Health [London], University College of London [London] (UCL), A.B. is funded in part by the program Actions Concertees Interpasteuriennes (ACIP) and a research grant from the European Society of Pediatric Endocrinology. A.B. and K.McE. are funded by a research grant from the EuroDSD in the European Community’s Seventh Framework Programme FP7/2007-2013 under grant agreement no. 201444 as well as grant no. 295097 as part of the EU call FP7-INCO-2011-6. J.C.A. is a Wellcome Trust Senior Research Fellow in Clinical Science (grant 098513/Z/12/Z, 209328/Z/17/Z) with research support from Great Ormond Street Hospital Children's Charity (grant V2518) and the NIHR GOSH BRC (IS-BRC-1215-20012)., This work is supported by the COST Action DSDnet BM1303., This work was funded by the Agence Nationale de la Recherche (Laboratoire d’Excellence Revive, Investissement d’Avenir, ANR-10-LABX-73)., The authors wish to thank Dr. Etienne Patin for comments on the manuscript., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010), European Project: 201444,EC:FP7:HEALTH,FP7-HEALTH-2007-A,EURODSD(2008), European Project: 295097,EC:FP7:INCO,FP7-INCO-2011-6,GM_NCD_IN_CO(2011), Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris] (IP)

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2018, 102 (3), pp.487-493. ⟨10.1016/j.ajhg.2018.01.021⟩
American Journal of Human Genetics, 2018, 102 (3), pp.487-493. ⟨10.1016/j.ajhg.2018.01.021⟩

مصطلحات موضوعية: Forkhead Box Protein L2, Male, 0301 basic medicine, new syndrome, 46, XX Disorders of Sex Development, [SDV]Life Sciences [q-bio], MESH: 46, XX Disorders of Sex Development / genetics, sex determination, MESH: Amino Acid Sequence, MESH: Loss of Function Mutation / genetics, MESH: Base Sequence, Bioinformatics, medicine.disease_cause, COUP Transcription Factor II, 0302 clinical medicine, Loss of Function Mutation, MESH: Ovary / growth & development, MESH: Child, Testis, MESH: Testis / growth & development, nuclear receptor, Child, Frameshift Mutation, Exome, Genetics (clinical), MESH: Heterozygote, 0303 health sciences, education.field_of_study, Mutation, MESH: Testis / abnormalities, MESH: COUP Transcription Factor II / genetics, Cell biology, Phenotype, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, medicine.symptom, Heterozygote, medicine.drug_class, Population, Ovary, Biology, MESH: COUP Transcription Factor II / chemistry, MESH: Phenotype, Frameshift mutation, [SDV.BDLR.RS]Life Sciences [q-bio]/Reproductive Biology/Sexual reproduction, 03 medical and health sciences, MESH: Forkhead Box Protein L2 / metabolism, Report, Genetics, medicine, Humans, Amino Acid Sequence, education, testicular DSD, Loss function, 030304 developmental biology, MESH: Humans, Base Sequence, Virilization, MESH: Frameshift Mutation / genetics, Androgen, MESH: Ovary / metabolism, NR2F2, MESH: Male, 030104 developmental biology, Nuclear receptor, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, COUP-TF2, Cardiac defects, MESH: Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e91d6a53f3d8867c6d02692f0689a27
https://hal-pasteur.archives-ouvertes.fr/pasteur-02872425