Villard L - Search Results

1

Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families.

Chabrol B, Girard N, N'Guyen K, Gérard A, Carlier M, Villard L, Philip N. Chabrol B, et al. Among authors: villard l. Am J Med Genet A. 2005 Nov 1;138(4):314-7. doi: 10.1002/ajmg.a.30882. Am J Med Genet A. 2005. PMID: 16158428

2

Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alpha-thalassemia.

Villard L, Toutain A, Lossi AM, Gecz J, Houdayer C, Moraine C, Fontès M. Villard L, et al. Am J Hum Genet. 1996 Mar;58(3):499-505. Am J Hum Genet. 1996. PMID: 8644709 Free PMC article.

3

X-linked mental retardation with neonatal hypotonia in a French family (MRX15): gene assignment to Xp11.22-Xp21.1.

Raynaud M, Gendrot C, Dessay B, Moncla A, Ayrault AD, Moizard MP, Toutain A, Briault S, Villard L, Ronce N, Moraine C. Raynaud M, et al. Among authors: villard l. Am J Med Genet. 1996 Jul 12;64(1):97-106. doi: 10.1002/(SICI)1096-8628(19960712)64:1<97::AID-AJMG17>3.0.CO;2-N. Am J Med Genet. 1996. PMID: 8826458

4

A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.

Villard L, Lacombe D, Fontés M. Villard L, et al. Eur J Hum Genet. 1996;4(6):316-20. doi: 10.1159/000472225. Eur J Hum Genet. 1996. PMID: 9043863

5

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.

Villard L, Bonino MC, Abidi F, Ragusa A, Belougne J, Lossi AM, Seaver L, Bonnefont JP, Romano C, Fichera M, Lacombe D, Hanauer A, Philip N, Schwartz C, Fontés M. Villard L, et al. J Med Genet. 1999 Mar;36(3):183-6. J Med Genet. 1999. PMID: 10204841 Free PMC article.

6

Villard L, Briault S, Lossi AM, Paringaux C, Belougne J, Colleaux L, Pincus DR, Woollatt E, Lespinasse J, Munnich A, Moraine C, Fontès M, Gecz J. Villard L, et al. J Med Genet. 1999 Oct;36(10):754-8. doi: 10.1136/jmg.36.10.754. J Med Genet. 1999. PMID: 10528854 Free PMC article.

7

Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28.

Villard L, des Portes V, Levy N, Louboutin JP, Recan D, Coquet M, Chabrol B, Figarella-Branger D, Chelly J, Pellissier JF, Fontes M. Villard L, et al. Eur J Hum Genet. 2000 Feb;8(2):125-9. doi: 10.1038/sj.ejhg.5200432. Eur J Hum Genet. 2000. PMID: 10757644

8

Mapping of X chromosome inversion breakpoints [inv(X)(q11q28)] associated with FG syndrome: a second FG locus [FGS2]?

Briault S, Villard L, Rogner U, Coy J, Odent S, Lucas J, Passage E, Zhu D, Shrimpton A, Pembrey M, Till M, Guichet A, Dessay S, Fontes M, Poustka A, Moraine C. Briault S, et al. Among authors: villard l. Am J Med Genet. 2000 Nov 13;95(2):178-81. doi: 10.1002/1096-8628(20001113)95:2<178::aid-ajmg17>3.0.co;2-v. Am J Med Genet. 2000. PMID: 11078572

9

Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.

Villard L, Lévy N, Xiang F, Kpebe A, Labelle V, Chevillard C, Zhang Z, Schwartz CE, Tardieu M, Chelly J, Anvret M, Fontès M. Villard L, et al. J Med Genet. 2001 Jul;38(7):435-42. doi: 10.1136/jmg.38.7.435. J Med Genet. 2001. PMID: 11432961 Free PMC article.

10

A locus for bilateral perisylvian polymicrogyria maps to Xq28.

Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM Jr, Winter RM, Leventer RJ, Dobyns WB. Villard L, et al. Am J Hum Genet. 2002 Apr;70(4):1003-8. doi: 10.1086/339433. Epub 2002 Jan 29. Am J Hum Genet. 2002. PMID: 11822025 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

202 results

Search Page