Missirian C - Search Results

1

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49.

Abaji M, Gorokhova S, Da Silva N, Busa T, Grelet M, Missirian C, Sigaudy S, Philip N, Leturcq F, Lévy N, Krahn M, Bartoli M. Abaji M, et al. Among authors: missirian c. Genes (Basel). 2022 Jul 19;13(7):1277. doi: 10.3390/genes13071277. Genes (Basel). 2022. PMID: 35886062 Free PMC article.

2

Genetic homogeneity of the urofacial (Ochoa) syndrome confirmed in a new French family.

Chauve X, Missirian C, Malzac P, Girardot L, Guys JM, Louis C, Philip N, Voelckel MA. Chauve X, et al. Among authors: missirian c. Am J Med Genet. 2000 Nov 6;95(1):10-2. doi: 10.1002/1096-8628(20001106)95:1<10::aid-ajmg3>3.0.co;2-z. Am J Med Genet. 2000. PMID: 11074487

3

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

4

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

5

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

6

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

7

Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

Coulibaly B, Sigaudy S, Girard N, Popovici C, Missirian C, Heckenroth H, Tasei AM, Fernandez C. Coulibaly B, et al. Among authors: missirian c. Eur J Med Genet. 2010 Sep-Oct;53(5):318-21. doi: 10.1016/j.ejmg.2010.07.005. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624500

8

Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.

Bretelle F, Beyer L, Pellissier MC, Missirian C, Sigaudy S, Gamerre M, D'Ercole C, Philip N. Bretelle F, et al. Among authors: missirian c. Eur J Med Genet. 2010 Nov-Dec;53(6):367-70. doi: 10.1016/j.ejmg.2010.07.008. Epub 2010 Jul 24. Eur J Med Genet. 2010. PMID: 20659598

9

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.

Fabre A, Martinez-Vinson C, Roquelaure B, Missirian C, André N, Breton A, Lachaux A, Odul E, Colomb V, Lemale J, Cézard JP, Goulet O, Sarles J, Levy N, Badens C. Fabre A, et al. Among authors: missirian c. Hum Mutat. 2011 Mar;32(3):277-81. doi: 10.1002/humu.21420. Epub 2011 Feb 17. Hum Mutat. 2011. PMID: 21120949

10

Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.

Popovici C, Busa T, Missirian C, Milh M, Moncla A, Philip N. Popovici C, et al. Among authors: missirian c. Eur J Med Genet. 2013 May;56(5):274-7. doi: 10.1016/j.ejmg.2013.02.005. Epub 2013 Feb 27. Eur J Med Genet. 2013. PMID: 23454271 Free article.

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

66 results

Search Page