Villard L - Search Results

1

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

Milh M, Falace A, Villeneuve N, Vanni N, Cacciagli P, Assereto S, Nabbout R, Benfenati F, Zara F, Chabrol B, Villard L, Fassio A. Milh M, et al. Among authors: villard l. Hum Mutat. 2013 Jun;34(6):869-72. doi: 10.1002/humu.22318. Epub 2013 Apr 12. Hum Mutat. 2013. PMID: 23526554

2

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

3

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

4

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype.

Moncla A, Missirian C, Cacciagli P, Balzamo E, Legeai-Mallet L, Jouve JL, Chabrol B, Le Merrer M, Plessis G, Villard L, Philip N. Moncla A, et al. Among authors: villard l. Hum Mutat. 2007 Dec;28(12):1183-8. doi: 10.1002/humu.20611. Hum Mutat. 2007. PMID: 17676597

5

TCF4 deletions in Pitt-Hopkins Syndrome.

Giurgea I, Missirian C, Cacciagli P, Whalen S, Fredriksen T, Gaillon T, Rankin J, Mathieu-Dramard M, Morin G, Martin-Coignard D, Dubourg C, Chabrol B, Arfi J, Giuliano F, Claude Lambert J, Philip N, Sarda P, Villard L, Goossens M, Moncla A. Giurgea I, et al. Among authors: villard l. Hum Mutat. 2008 Nov;29(11):E242-51. doi: 10.1002/humu.20859. Hum Mutat. 2008. PMID: 18781613

6

Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features.

Haddad MR, Mignon-Ravix C, Cacciagli P, Mégarbané A, Villard L. Haddad MR, et al. Among authors: villard l. Eur J Med Genet. 2009 Jul-Aug;52(4):211-7. doi: 10.1016/j.ejmg.2009.04.002. Epub 2009 Apr 18. Eur J Med Genet. 2009. PMID: 19379847

7

Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia.

Mignon-Ravix C, Cacciagli P, El-Waly B, Moncla A, Milh M, Girard N, Chabrol B, Philip N, Villard L. Mignon-Ravix C, et al. Among authors: villard l. J Med Genet. 2010 Feb;47(2):132-6. doi: 10.1136/jmg.2009.069112. Epub 2009 Jul 26. J Med Genet. 2010. PMID: 19635726

8

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype.

Cacciagli P, Haddad MR, Mignon-Ravix C, El-Waly B, Moncla A, Missirian C, Chabrol B, Villard L. Cacciagli P, et al. Among authors: villard l. Eur J Hum Genet. 2010 Dec;18(12):1360-3. doi: 10.1038/ejhg.2010.126. Epub 2010 Aug 4. Eur J Hum Genet. 2010. PMID: 20683487 Free PMC article.

9

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K. Endele S, et al. Among authors: villard l. Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890276

10

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

Milh M, Villeneuve N, Chouchane M, Kaminska A, Laroche C, Barthez MA, Gitiaux C, Bartoli C, Borges-Correia A, Cacciagli P, Mignon-Ravix C, Cuberos H, Chabrol B, Villard L. Milh M, et al. Among authors: villard l. Epilepsia. 2011 Oct;52(10):1828-34. doi: 10.1111/j.1528-1167.2011.03181.x. Epub 2011 Jul 19. Epilepsia. 2011. PMID: 21770924 Free article.

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