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Page 1
Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study.
Stoupa A, Kariyawasam D, Jabot-Hanin F, Quoc AN, Hanein S, Rabeony T, Elie C, Colas S, Thalassinos C, Oliver-Petit I, Houang M, Coutant R, Barat P, Nicolino M, Reynaud R, de Kerdanet M, Signor CB, Baron S, Raynaud-Ravni C, Souchon PF, Léger J, Castanet M, Bole-Feysot C, Nitschke P, Lyonnet S, Polak M, Carré A. Stoupa A, et al. Among authors: raynaud ravni c. J Clin Endocrinol Metab. 2025 Jan 9:dgaf004. doi: 10.1210/clinem/dgaf004. Online ahead of print. J Clin Endocrinol Metab. 2025. PMID: 39787321
Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure.
Bachelot A, Rouxel A, Massin N, Dulon J, Courtillot C, Matuchansky C, Badachi Y, Fortin A, Paniel B, Lecuru F, Lefrère-Belda MA, Constancis E, Thibault E, Meduri G, Guiochon-Mantel A, Misrahi M, Kuttenn F, Touraine P; POF-GIS Study Group. Bachelot A, et al. Eur J Endocrinol. 2009 Jul;161(1):179-87. doi: 10.1530/EJE-09-0231. Epub 2009 May 1. Eur J Endocrinol. 2009. PMID: 19411303