Castanet M - Search Results

1

Extreme phenotypic variability of thyroid dysgenesis in six new cases of congenital hypothyroidism due to PAX8 gene loss-of-function mutations.

Ramos HE, Carré A, Chevrier L, Szinnai G, Tron E, Cerqueira TL, Léger J, Cabrol S, Puel O, Queinnec C, De Roux N, Guillot L, Castanet M, Polak M. Ramos HE, et al. Among authors: castanet m. Eur J Endocrinol. 2014 Oct;171(4):499-507. doi: 10.1530/EJE-13-1006. Eur J Endocrinol. 2014. PMID: 25214233

2

Molecular mechanisms of thyroid dysgenesis.

Polak M, Sura-Trueba S, Chauty A, Szinnai G, Carré A, Castanet M. Polak M, et al. Among authors: castanet m. Horm Res. 2004;62 Suppl 3:14-21. doi: 10.1159/000080494. Horm Res. 2004. PMID: 15539794 Review.

3

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.

4

Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

Carré A, Szinnai G, Castanet M, Sura-Trueba S, Tron E, Broutin-L'Hermite I, Barat P, Goizet C, Lacombe D, Moutard ML, Raybaud C, Raynaud-Ravni C, Romana S, Ythier H, Léger J, Polak M. Carré A, et al. Among authors: castanet m. Hum Mol Genet. 2009 Jun 15;18(12):2266-76. doi: 10.1093/hmg/ddp162. Epub 2009 Mar 31. Hum Mol Genet. 2009. PMID: 19336474

5

Epidemiology of thyroid dysgenesis: the familial component.

Castanet M, Marinovic D, Polak M, Léger J. Castanet M, et al. Horm Res Paediatr. 2010;73(4):231-7. doi: 10.1159/000284386. Epub 2010 Mar 9. Horm Res Paediatr. 2010. PMID: 20215768 Review.

6

New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screening.

Ramos HE, Labedan I, Carré A, Castanet M, Guemas I, Tron E, Madhi F, Delacourt C, Maciel RM, Polak M. Ramos HE, et al. Among authors: castanet m. Thyroid. 2010 Jun;20(6):639-45. doi: 10.1089/thy.2009.0462. Thyroid. 2010. PMID: 20553196

7

Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

Ramos HE, Morandini M, Carré A, Tron E, Floch C, Mandelbrot L, Neri N, De Sarcus B, Simon A, Bonnefont JP, Amiel J, Desguerre I, Valayannopoulos V, Castanet M, Polak M. Ramos HE, et al. Among authors: castanet m. Eur J Endocrinol. 2011 Feb;164(2):309-14. doi: 10.1530/EJE-10-0679. Epub 2010 Nov 23. Eur J Endocrinol. 2011. PMID: 21098685

8

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

9

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. Eur J Hum Genet. 2005 Feb;13(2):232-9. doi: 10.1038/sj.ejhg.5201321. Eur J Hum Genet. 2005. PMID: 15547625

10

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. 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

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