Missirian C - Search Results

1

Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.

Tran Mau-Them F, Willems M, Albrecht B, Sanchez E, Puechberty J, Endele S, Schneider A, Ruiz Pallares N, Missirian C, Rivier F, Girard M, Holder M, Manouvrier S, Touitou I, Lefort G, Sarda P, Moncla A, Drunat S, Wieczorek D, Genevieve D. Tran Mau-Them F, et al. Among authors: missirian c. Eur J Hum Genet. 2014 Feb;22(2):289-92. doi: 10.1038/ejhg.2013.113. Epub 2013 May 15. Eur J Hum Genet. 2014. PMID: 23674175 Free PMC article.

2

Fragile X syndrome and 22q11.2 microdeletion in the same sibship.

Missirian C, Moncla A, Voelckel MA, Ravix V, Philip N. Missirian C, et al. Am J Med Genet. 2000 Dec 11;95(4):358-60. Am J Med Genet. 2000. PMID: 11186890

3

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: missirian c. Eur J Hum Genet. 2002 Jan;10(1):86-9. doi: 10.1038/sj.ejhg.5200761. Eur J Hum Genet. 2002. PMID: 11896461

4

Another patient with cryptic unbalanced translocation between chromosomes 4q and 18q: evidence by microarray CGH.

Moncla A, Missirian C, Philip N, Marlin S. Moncla A, et al. Among authors: missirian c. Am J Med Genet A. 2004 Dec 15;131(3):314-7. doi: 10.1002/ajmg.a.30262. Am J Med Genet A. 2004. PMID: 15389711 No abstract available.

5

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. Among authors: missirian c. Eur J Hum Genet. 2005 Jan;13(1):41-51. doi: 10.1038/sj.ejhg.5201293. Eur J Hum Genet. 2005. PMID: 15470359

6

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation.

Philip N, Colleaux L, Sigaudy S, Attié-Bitach T, Missirian C, Moncla A, Mattei MG, Bollini G. Philip N, et al. Among authors: missirian c. Am J Med Genet A. 2005 Apr 1;134A(1):39-44. doi: 10.1002/ajmg.a.30468. Am J Med Genet A. 2005. PMID: 15732060

7

Truncation of NHEJ1 in a patient with polymicrogyria.

Cantagrel V, Lossi AM, Lisgo S, Missirian C, Borges A, Philip N, Fernandez C, Cardoso C, Figarella-Branger D, Moncla A, Lindsay S, Dobyns WB, Villard L. Cantagrel V, et al. Among authors: missirian c. Hum Mutat. 2007 Apr;28(4):356-64. doi: 10.1002/humu.20450. Hum Mutat. 2007. PMID: 17191205

8

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. Among authors: missirian c. 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

9

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: missirian c. Hum Mutat. 2007 Dec;28(12):1183-8. doi: 10.1002/humu.20611. Hum Mutat. 2007. PMID: 17676597

10

Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes.

Mochel F, Missirian C, Reynaud R, Moncla A. Mochel F, et al. Among authors: missirian c. Eur J Med Genet. 2008 Jan-Feb;51(1):68-73. doi: 10.1016/j.ejmg.2007.11.002. Epub 2007 Nov 22. Eur J Med Genet. 2008. PMID: 18194880

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

67 results

Search Page

Filters