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Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
Schoenmakers E, Agostini M, Mitchell C, Schoenmakers N, Papp L, Rajanayagam O, Padidela R, Ceron-Gutierrez L, Doffinger R, Prevosto C, Luan J, Montano S, Lu J, Castanet M, Clemons N, Groeneveld M, Castets P, Karbaschi M, Aitken S, Dixon A, Williams J, Campi I, Blount M, Burton H, Muntoni F, O'Donovan D, Dean A, Warren A, Brierley C, Baguley D, Guicheney P, Fitzgerald R, Coles A, Gaston H, Todd P, Holmgren A, Khanna KK, Cooke M, Semple R, Halsall D, Wareham N, Schwabe J, Grasso L, Beck-Peccoz P, Ogunko A, Dattani M, Gurnell M, Chatterjee K. Schoenmakers E, et al. Among authors: castanet m. J Clin Invest. 2010 Dec;120(12):4220-35. doi: 10.1172/JCI43653. Epub 2010 Nov 15. J Clin Invest. 2010. PMID: 21084748 Free PMC article.
Hyperinsulinemic Hypoglycemia in a Neonate.
Melin A, Brossard C, Castanet M, Bekri S, Tebani A. Melin A, et al. Among authors: castanet m. Clin Chem. 2019 Feb;65(2):351-353. doi: 10.1373/clinchem.2018.292326. Clin Chem. 2019. PMID: 30692138 No abstract available.
Familial forms of thyroid dysgenesis.
Castanet M, Polak M, Léger J. Castanet M, et al. Endocr Dev. 2007;10:15-28. doi: 10.1159/000106817. Endocr Dev. 2007. PMID: 17684387 Review.
Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors.
Castanet M, Polak M, Bonaïti-Pellié C, Lyonnet S, Czernichow P, Léger J; AFDPHE (Association Française pour le Dépistage et la Prévention des Handicaps de l'Enfant). Castanet M, et al. J Clin Endocrinol Metab. 2001 May;86(5):2009-14. doi: 10.1210/jcem.86.5.7501. J Clin Endocrinol Metab. 2001. PMID: 11344199
65 results