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Présentation
Membres

Kenneth McElreavey
Responsable de Structure
Responsable
Anciens Membres
2000
2000
Name
Position
2015
2019
Namya Mellouk
2015
2019
Marie-Charlotte Dumargne
Post-doc
2015
2019
Pierre Calvel
Post-doc
2015
2019
Sandra Rojo
Post-doc
2015
2019
Capucine Hyon
2015
2019
Human Developmental Genetics
Projets
Projet Transversal
Publications
Télécharger-
2025Primary ovarian insufficiency due to homozygous variants in the homeobox transcription factor NOBOX., Mol Biol Rep 2025 Dec; 53(1): 150.
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2025Phenotypic Variation and Pubertal Outcomes in Males and Females With 46,XY Partial Gonadal Dysgenesis., J Clin Endocrinol Metab 2025 Nov; 110(12): e4086-e4100.
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2025Digenic, oligogenic and genetic modifiers in disorders/differences of sex development (DSD)., Expert Rev Endocrinol Metab 2025 Sep; 20(5): 345-347.
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2025Clinical and genetic diagnosis of first cohort of differences of sexual development in the Iranian population., J Pediatr Endocrinol Metab 2025 Mar; 38(3): 279-287.
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2025Gonadal function and pathology in 17beta-HSD 3 and 5alpha-reductase deficiency., Eur J Endocrinol 2025 Jan; 192(1): 34-45.
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2025Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a SEMA3E Loss-of-Function Variant., Sex Dev 2025 ; 19(1-6): 75-80.
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2025Multi-Stakeholder Opinion Statement on the Care of Individuals Born with Differences of Sex Development: Common Ground and Opportunities for Improvement., Horm Res Paediatr 2025 ; 98(2): 226-242.
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2024Contributions of Common Genetic Variants to Constitutional Delay of Puberty and Idiopathic Hypogonadotropic Hypogonadism, J Clin Endocrinol Metab 2024 Dec; 110(1): e61-e67.
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2024Evidence for NR2F2/COUP-TFII involvement in human testis development., Sci Rep 2024 Aug; 14(1): 17869.
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2024A conserved NR5A1-responsive enhancer regulates SRY in testis-determination., Nat Commun 2024 Mar; 15(1): 2796.
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+Voir la liste complète de publications
Contact
Phone:
Email:
Address
25-28 Rue du Docteur Roux
75015, Paris
France







