Mignon-Ravix C - Search Results

1

PML nuclear bodies are highly organised DNA-protein structures with a function in heterochromatin remodelling at the G2 phase.

Luciani JJ, Depetris D, Usson Y, Metzler-Guillemain C, Mignon-Ravix C, Mitchell MJ, Megarbane A, Sarda P, Sirma H, Moncla A, Feunteun J, Mattei MG. Luciani JJ, et al. J Cell Sci. 2006 Jun 15;119(Pt 12):2518-31. doi: 10.1242/jcs.02965. Epub 2006 May 30. J Cell Sci. 2006. PMID: 16735446

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

In human pachytene spermatocytes, SUMO protein is restricted to the constitutive heterochromatin.

Metzler-Guillemain C, Depetris D, Luciani JJ, Mignon-Ravix C, Mitchell MJ, Mattei MG. Metzler-Guillemain C, et al. Chromosome Res. 2008;16(5):761-82. doi: 10.1007/s10577-008-1225-7. Epub 2008 Jul 4. Chromosome Res. 2008. PMID: 18592385

4

A human interstitial telomere associates in vivo with specific TRF2 and TIN2 proteins.

Mignon-Ravix C, Depetris D, Delobel B, Croquette MF, Mattei MG. Mignon-Ravix C, et al. Eur J Hum Genet. 2002 Feb;10(2):107-12. doi: 10.1038/sj.ejhg.5200775. Eur J Hum Genet. 2002. PMID: 11938440

5

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

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. 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

Mechanism of intrachromosomal triplications 15q11-q13: a new clinical report.

Vialard F, Mignon-Ravix C, Parain D, Depetris D, Portnoï MF, Moirot H, Mattei MG. Vialard F, et al. Am J Med Genet A. 2003 Apr 30;118A(3):229-34. doi: 10.1002/ajmg.a.10164. Am J Med Genet A. 2003. PMID: 12673652

8

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability.

Choucair N, Mignon-Ravix C, Cacciagli P, Abou Ghoch J, Fawaz A, Mégarbané A, Villard L, Chouery E. Choucair N, et al. Mol Cytogenet. 2015 Jun 16;8:39. doi: 10.1186/s13039-015-0149-0. eCollection 2015. Mol Cytogenet. 2015. PMID: 26082802 Free PMC article.

9

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.

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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