Villard L - Search Results

1

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L. Cacciagli P, et al. Among authors: villard l. Eur J Hum Genet. 2014 Mar;22(3):363-8. doi: 10.1038/ejhg.2013.135. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756445 Free PMC article.

2

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

3

A polymorphic microsatellite XNP-GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis.

Lévy N, Bernard-Bronsard R, Lossi AM, Colleaux L, Cardoso C, Villard L, Fontés M. Lévy N, et al. Among authors: villard l. Hum Mutat. 1999 Nov;14(5):448. doi: 10.1002/(SICI)1098-1004(199911)14:5<448::AID-HUMU15>3.0.CO;2-Q. Hum Mutat. 1999. PMID: 10533076 No abstract available.

4

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

5

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.

6

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.

7

Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.

Moncla A, Kpebe A, Missirian C, Mancini J, Villard L. Moncla A, et al. Among authors: villard l. Eur J Hum Genet. 2002 Jan;10(1):86-9. doi: 10.1038/sj.ejhg.5200761. Eur J Hum Genet. 2002. PMID: 11896461

8

Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

Villard L, Fontes M. Villard L, et al. Eur J Hum Genet. 2002 Apr;10(4):223-5. doi: 10.1038/sj.ejhg.5200800. Eur J Hum Genet. 2002. PMID: 12032728 No abstract available.

9

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia.

Philip N, Chabrol B, Lossi AM, Cardoso C, Guerrini R, Dobyns WB, Raybaud C, Villard L. Philip N, et al. Among authors: villard l. J Med Genet. 2003 Jun;40(6):441-6. doi: 10.1136/jmg.40.6.441. J Med Genet. 2003. PMID: 12807966 Free PMC article. No abstract available.

10

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

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

203 results

Search Page

Filters