Mignon-Ravix C - Search Results

1

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. 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

2

Subcellular distribution of HP1 proteins is altered in ICF syndrome.

Luciani JJ, Depetris D, Missirian C, Mignon-Ravix C, Metzler-Guillemain C, Megarbane A, Moncla A, Mattei MG. Luciani JJ, et al. Eur J Hum Genet. 2005 Jan;13(1):41-51. doi: 10.1038/sj.ejhg.5201293. Eur J Hum Genet. 2005. PMID: 15470359

3

Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations.

Mignon-Ravix C, Depetris D, Luciani JJ, Cuoco C, Krajewska-Walasek M, Missirian C, Collignon P, Delobel B, Croquette MF, Moncla A, Kroisel PM, Mattei MG. Mignon-Ravix C, et al. Eur J Hum Genet. 2007 Apr;15(4):432-40. doi: 10.1038/sj.ejhg.5201775. Epub 2007 Jan 31. Eur J Hum Genet. 2007. PMID: 17264869

4

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.

Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. Cardoso C, et al. Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10. Neurology. 2009. PMID: 19073947

5

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. 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

6

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. 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.

7

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: a distinct MCA/MR syndrome.

Mégarbané A, Chouery E, Mignon-Ravix C, El Sabbagh S, Corbani S, Ghoch JA, Jalkh N, Mehawej C, Lévy N, Villard L. Mégarbané A, et al. Am J Med Genet A. 2011 May;155A(5):1147-51. doi: 10.1002/ajmg.a.33938. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465653

8

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. 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.

9

Intragenic rearrangements in X-linked intellectual deficiency: results of a-CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes.

Mignon-Ravix C, Cacciagli P, Choucair N, Popovici C, Missirian C, Milh M, Mégarbané A, Busa T, Julia S, Girard N, Badens C, Sigaudy S, Philip N, Villard L. Mignon-Ravix C, et al. Am J Med Genet A. 2014 Aug;164A(8):1991-7. doi: 10.1002/ajmg.a.36602. Epub 2014 May 9. Am J Med Genet A. 2014. PMID: 24817631

10

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.

Choucair N, Ghoch JA, Corbani S, Cacciagli P, Mignon-Ravix C, Salem N, Jalkh N, El Sabbagh S, Fawaz A, Ibrahim T, Villard L, Mégarbané A, Chouery E. Choucair N, et al. Mol Cytogenet. 2015 Apr 9;8:26. doi: 10.1186/s13039-015-0130-y. eCollection 2015. Mol Cytogenet. 2015. PMID: 25922617 Free PMC article.

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