Polak M - Search Results

1

New genetics in congenital hypothyroidism.

Stoupa A, Kariyawasam D, Muzza M, de Filippis T, Fugazzola L, Polak M, Persani L, Carré A. Stoupa A, et al. Among authors: polak m. Endocrine. 2021 Mar;71(3):696-705. doi: 10.1007/s12020-021-02646-9. Epub 2021 Mar 1. Endocrine. 2021. PMID: 33650047 Review.

2

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

3

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. Among authors: polak m. J Clin Endocrinol Metab. 2002 Feb;87(2):575-80. doi: 10.1210/jcem.87.2.8268. J Clin Endocrinol Metab. 2002. PMID: 11836288

4

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: polak m. Hum Mol Genet. 2002 Aug 15;11(17):2051-9. doi: 10.1093/hmg/11.17.2051. Hum Mol Genet. 2002. PMID: 12165566

5

Molecular mechanisms of thyroid dysgenesis.

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

6

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

7

[Congenital hypothyroidism].

Carranza D, Van Vliet G, Polak M. Carranza D, et al. Among authors: polak m. Ann Endocrinol (Paris). 2006 Sep;67(4):295-302. doi: 10.1016/s0003-4266(06)72601-4. Ann Endocrinol (Paris). 2006. PMID: 17072233 Review. French.

8

Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus.

Szinnai G, Lacroix L, Carré A, Guimiot F, Talbot M, Martinovic J, Delezoide AL, Vekemans M, Michiels S, Caillou B, Schlumberger M, Bidart JM, Polak M. Szinnai G, et al. Among authors: polak m. J Clin Endocrinol Metab. 2007 Jan;92(1):70-6. doi: 10.1210/jc.2006-1450. Epub 2006 Oct 31. J Clin Endocrinol Metab. 2007. PMID: 17077129

9

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.

10

Hereditary medullary thyroid carcinoma: how molecular genetics made multiple endocrine neoplasia type 2 a paediatric disease.

Szinnai G, Sarnacki S, Polak M. Szinnai G, et al. Among authors: polak m. Endocr Dev. 2007;10:173-187. doi: 10.1159/000106826. Endocr Dev. 2007. PMID: 17684396 Review.

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