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Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.
Villanueva C, Jacobson-Dickman E, Xu C, Manouvrier S, Dwyer AA, Sykiotis GP, Beenken A, Liu Y, Tommiska J, Hu Y, Tiosano D, Gerard M, Leger J, Drouin-Garraud V, Lefebvre H, Polak M, Carel JC, Phan-Hug F, Hauschild M, Plummer L, Rey JP, Raivio T, Bouloux P, Sidis Y, Mohammadi M, de Roux N, Pitteloud N. Villanueva C, et al. Among authors: polak m. Genet Med. 2015 Aug;17(8):651-9. doi: 10.1038/gim.2014.166. Epub 2014 Nov 13. Genet Med. 2015. PMID: 25394172 Free PMC article.
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. Among authors: polak m. J Clin Endocrinol Metab. 2001 May;86(5):2009-14. doi: 10.1210/jcem.86.5.7501. J Clin Endocrinol Metab. 2001. PMID: 11344199
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance.
Faivre L, Le Merrer M, Baumann C, Polak M, Chatelain P, Sulmont V, Cousin J, Bost M, Cordier MP, Zackai E, Russell K, Finidori G, Pouliquen JC, Munnich A, Maroteaux P, Cormier-Daire V. Faivre L, et al. Among authors: polak m. J Med Genet. 2001 Nov;38(11):745-9. doi: 10.1136/jmg.38.11.745. J Med Genet. 2001. PMID: 11694546 Free PMC article.
Familial forms of thyroid dysgenesis.
Castanet M, Polak M, Léger J. Castanet M, et al. Among authors: polak m. Endocr Dev. 2007;10:15-28. doi: 10.1159/000106817. Endocr Dev. 2007. PMID: 17684387 Review.
1,134 results