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Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
Blons H, Feldmann D, Duval V, Messaz O, Denoyelle F, Loundon N, Sergout-Allaoui A, Houang M, Duriez F, Lacombe D, Delobel B, Leman J, Catros H, Journel H, Drouin-Garraud V, Obstoy MF, Toutain A, Oden S, Toublanc JE, Couderc R, Petit C, Garabédian EN, Marlin S. Blons H, et al. Among authors: toublanc je. Clin Genet. 2004 Oct;66(4):333-40. doi: 10.1111/j.1399-0004.2004.00296.x. Clin Genet. 2004. PMID: 15355436
Four families with loss of function mutations of the thyrotropin receptor.
de Roux N, Misrahi M, Brauner R, Houang M, Carel JC, Granier M, Le Bouc Y, Ghinea N, Boumedienne A, Toublanc JE, Milgrom E. de Roux N, et al. Among authors: toublanc je. J Clin Endocrinol Metab. 1996 Dec;81(12):4229-35. doi: 10.1210/jcem.81.12.8954020. J Clin Endocrinol Metab. 1996. PMID: 8954020
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.
Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP. Dodé C, et al. Among authors: toublanc je. PLoS Genet. 2006 Oct 20;2(10):e175. doi: 10.1371/journal.pgen.0020175. Epub 2006 Sep 1. PLoS Genet. 2006. PMID: 17054399 Free PMC article.
[Genetic factor of sex determination].
Abbas N, Toublanc J, Rappaport R, Fekete-Nihoul C, Boucekine C, Chabouni H, Fellous M. Abbas N, et al. Bull Assoc Anat (Nancy). 1991 Mar;75(228):7-14. Bull Assoc Anat (Nancy). 1991. PMID: 1782471 Review. French.
83 results