Tardy V - Search Results

1

Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.

Tardy V, Menassa R, Sulmont V, Lienhardt-Roussie A, Lecointre C, Brauner R, David M, Morel Y. Tardy V, et al. J Clin Endocrinol Metab. 2010 Mar;95(3):1288-300. doi: 10.1210/jc.2009-1202. Epub 2010 Jan 15. J Clin Endocrinol Metab. 2010. PMID: 20080860

2

New insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency: identification of eight mutations in the HSD3B2 gene eleven patients from seven new families and comparison of the functional properties of twenty-five mutant enzymes.

Moisan AM, Ricketts ML, Tardy V, Desrochers M, Mébarki F, Chaussain JL, Cabrol S, Raux-Demay MC, Forest MG, Sippell WG, Peter M, Morel Y, Simard J. Moisan AM, et al. Among authors: tardy v. J Clin Endocrinol Metab. 1999 Dec;84(12):4410-25. doi: 10.1210/jcem.84.12.6288. J Clin Endocrinol Metab. 1999. PMID: 10599696

3

Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.

Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Mégarbané A. Delague V, et al. Among authors: tardy v. Horm Res. 2000;53(2):77-82. doi: 10.1159/000023518. Horm Res. 2000. PMID: 10971093

4

How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.

L'Allemand D, Tardy V, Grüters A, Schnabel D, Krude H, Morel Y. L'Allemand D, et al. Among authors: tardy v. J Clin Endocrinol Metab. 2000 Dec;85(12):4562-7. doi: 10.1210/jcem.85.12.7018. J Clin Endocrinol Metab. 2000. PMID: 11134109

5

A new insight into the molecular basis of 3beta-hydroxysteroid dehydrogenase deficiency.

Simard J, Ricketts ML, Moisan AM, Tardy V, Peter M, Van Vliet G, Morel Y. Simard J, et al. Among authors: tardy v. Endocr Res. 2000 Nov;26(4):761-70. doi: 10.3109/07435800009048597. Endocr Res. 2000. PMID: 11196452 Review.

6

Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

Deneux C, Tardy V, Dib A, Mornet E, Billaud L, Charron D, Morel Y, Kuttenn F. Deneux C, et al. Among authors: tardy v. J Clin Endocrinol Metab. 2001 Jan;86(1):207-13. doi: 10.1210/jcem.86.1.7131. J Clin Endocrinol Metab. 2001. PMID: 11232002

7

Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.

Pinto G, Tardy V, Trivin C, Thalassinos C, Lortat-Jacob S, Nihoul-Fékété C, Morel Y, Brauner R. Pinto G, et al. Among authors: tardy v. J Clin Endocrinol Metab. 2003 Jun;88(6):2624-33. doi: 10.1210/jc.2002-021433. J Clin Endocrinol Metab. 2003. PMID: 12788866

8

[Fetal intersexuality: management approach].

Morel Y, Tardy V, Calemard-Michel L, Guibaud L, Till M, Forest MG. Morel Y, et al. Among authors: tardy v. Ann Endocrinol (Paris). 2003 Oct;64(4):316-22. Ann Endocrinol (Paris). 2003. PMID: 14595245 French. No abstract available.

9

Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.

Kharrat M, Tardy V, M'Rad R, Maazoul F, Jemaa LB, Refaï M, Morel Y, Chaabouni H. Kharrat M, et al. Among authors: tardy v. J Clin Endocrinol Metab. 2004 Jan;89(1):368-74. doi: 10.1210/jc.2003-031056. J Clin Endocrinol Metab. 2004. PMID: 14715874

10

[21 hydroxylase deficiency: new strategies emerging from molecular studies].

Morel Y, Tardy V, Costa JM, Forest MG, David M. Morel Y, et al. Among authors: tardy v. Ann Endocrinol (Paris). 2003 Dec;64(6):456-70. Ann Endocrinol (Paris). 2003. PMID: 15067252 French. No abstract available.

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