Léger J - Search Results

1

Congenital Hypothyroidism: A 2020-2021 Consensus Guidelines Update-An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.

van Trotsenburg P, Stoupa A, Léger J, Rohrer T, Peters C, Fugazzola L, Cassio A, Heinrichs C, Beauloye V, Pohlenz J, Rodien P, Coutant R, Szinnai G, Murray P, Bartés B, Luton D, Salerno M, de Sanctis L, Vigone M, Krude H, Persani L, Polak M. van Trotsenburg P, et al. Among authors: leger j. Thyroid. 2021 Mar;31(3):387-419. doi: 10.1089/thy.2020.0333. Thyroid. 2021. PMID: 33272083 Free PMC article. Review.

2

Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism.

Léger J, Marinovic D, Garel C, Bonaïti-Pellié C, Polak M, Czernichow P. Léger J, et al. J Clin Endocrinol Metab. 2002 Feb;87(2):575-80. doi: 10.1210/jcem.87.2.8268. J Clin Endocrinol Metab. 2002. PMID: 11836288

3

A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate.

Castanet M, Park SM, Smith A, Bost M, Léger J, Lyonnet S, Pelet A, Czernichow P, Chatterjee K, Polak M. Castanet M, et al. Among authors: leger j. Hum Mol Genet. 2002 Aug 15;11(17):2051-9. doi: 10.1093/hmg/11.17.2051. Hum Mol Genet. 2002. PMID: 12165566

4

Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes.

Castanet M, Sura-Trueba S, Chauty A, Carré A, de Roux N, Heath S, Léger J, Lyonnet S, Czernichow P, Polak M. Castanet M, et al. Among authors: leger j. Eur J Hum Genet. 2005 Feb;13(2):232-9. doi: 10.1038/sj.ejhg.5201321. Eur J Hum Genet. 2005. PMID: 15547625

5

Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases.

Castanet M, Leenhardt L, Léger J, Simon-Carré A, Lyonnet S, Pelet A, Czernichow P, Polak M. Castanet M, et al. Among authors: leger j. Pediatr Res. 2005 Jun;57(6):908-13. doi: 10.1203/01.PDR.0000161409.04177.36. Epub 2005 Apr 21. Pediatr Res. 2005. PMID: 15845640

6

Management of Graves' disease during pregnancy: the key role of fetal thyroid gland monitoring.

Luton D, Le Gac I, Vuillard E, Castanet M, Guibourdenche J, Noel M, Toubert ME, Léger J, Boissinot C, Schlageter MH, Garel C, Tébeka B, Oury JF, Czernichow P, Polak M. Luton D, et al. Among authors: leger j. J Clin Endocrinol Metab. 2005 Nov;90(11):6093-8. doi: 10.1210/jc.2004-2555. Epub 2005 Aug 23. J Clin Endocrinol Metab. 2005. PMID: 16118343

7

Familial forms of thyroid dysgenesis.

Castanet M, Polak M, Léger J. Castanet M, et al. Among authors: leger j. Endocr Dev. 2007;10:15-28. doi: 10.1159/000106817. Endocr Dev. 2007. PMID: 17684387 Review.

8

Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis.

Carré A, Castanet M, Sura-Trueba S, Szinnai G, Van Vliet G, Trochet D, Amiel J, Léger J, Czernichow P, Scotet V, Polak M. Carré A, et al. Among authors: leger j. Hum Genet. 2007 Dec;122(5):467-76. doi: 10.1007/s00439-007-0420-5. Epub 2007 Aug 24. Hum Genet. 2007. PMID: 17717707

9

Clinical description of infants with congenital hypothyroidism and iodide organification defects.

Cavarzere P, Castanet M, Polak M, Raux-Demay MC, Cabrol S, Carel JC, Léger J, Czernichow P. Cavarzere P, et al. Among authors: leger j. Horm Res. 2008;70(4):240-8. doi: 10.1159/000151597. Epub 2008 Sep 5. Horm Res. 2008. PMID: 18772598

10

An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain.

Sura-Trueba S, Aumas C, Carre A, Durif S, Leger J, Polak M, de Roux N. Sura-Trueba S, et al. Among authors: leger j. Endocrinology. 2009 Feb;150(2):1043-50. doi: 10.1210/en.2008-1145. Epub 2008 Oct 16. Endocrinology. 2009. PMID: 18927215

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