Cormier-Daire V - Search Results

1

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy.

Nguyen LS, Schneider T, Rio M, Moutton S, Siquier-Pernet K, Verny F, Boddaert N, Desguerre I, Munich A, Rosa JL, Cormier-Daire V, Colleaux L. Nguyen LS, et al. Eur J Hum Genet. 2016 Mar;24(3):455-8. doi: 10.1038/ejhg.2015.140. Epub 2015 Jul 8. Eur J Hum Genet. 2016. PMID: 26153217 Free PMC article.

2

A gene for pyridoxine-dependent epilepsy maps to chromosome 5q31.

Cormier-Daire V, Dagoneau N, Nabbout R, Burglen L, Penet C, Soufflet C, Desguerre I, Munnich A, Dulac O. Cormier-Daire V, et al. Am J Hum Genet. 2000 Oct;67(4):991-3. doi: 10.1086/303087. Epub 2000 Sep 7. Am J Hum Genet. 2000. PMID: 10978228 Free PMC article.

3

A novel automated strategy for screening cryptic telomeric rearrangements in children with idiopathic mental retardation.

Colleaux L, Rio M, Heuertz S, Moindrault S, Turleau C, Ozilou C, Gosset P, Raoult O, Lyonnet S, Cormier-Daire V, Amiel J, Le Merrer M, Picq M, de Blois MC, Prieur M, Romana S, Cornelis F, Vekemans M, Munnich A. Colleaux L, et al. Eur J Hum Genet. 2001 May;9(5):319-27. doi: 10.1038/sj.ejhg.5200591. Eur J Hum Genet. 2001. PMID: 11378819

4

Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.

Rio M, Ozilou C, Cormier-Daire V, Turleau C, Prieur M, Vekemans M, Chauveau P, Munnich A, Colleaux L. Rio M, et al. Hum Genet. 2001 Jun;108(6):511-5. doi: 10.1007/s004390100522. Hum Genet. 2001. PMID: 11499677

5

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.

Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L. Rio M, et al. J Med Genet. 2002 Apr;39(4):266-70. doi: 10.1136/jmg.39.4.266. J Med Genet. 2002. PMID: 11950856 Free PMC article.

6

Clinical and genetic heterogeneity of Seckel syndrome.

Faivre L, Le Merrer M, Lyonnet S, Plauchu H, Dagoneau N, Campos-Xavier AB, Attia-Sobol J, Verloes A, Munnich A, Cormier-Daire V. Faivre L, et al. Am J Med Genet. 2002 Nov 1;112(4):379-83. doi: 10.1002/ajmg.10677. Am J Med Genet. 2002. PMID: 12376940

7

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.

Faivre L, Gosset P, Cormier-Daire V, Odent S, Amiel J, Giurgea I, Nassogne MC, Pasquier L, Munnich A, Romana S, Prieur M, Vekemans M, De Blois MC, Turleau C. Faivre L, et al. Eur J Hum Genet. 2002 Nov;10(11):699-706. doi: 10.1038/sj.ejhg.5200879. Eur J Hum Genet. 2002. PMID: 12404101

8

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.

El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V. El Ghouzzi V, et al. Hum Mol Genet. 2003 Feb 1;12(3):357-64. doi: 10.1093/hmg/ddg029. Hum Mol Genet. 2003. PMID: 12554689

9

Cryptic terminal deletion of chromosome 9q34: a novel cause of syndromic obesity in childhood?

Cormier-Daire V, Molinari F, Rio M, Raoul O, de Blois MC, Romana S, Vekemans M, Munnich A, Colleaux L. Cormier-Daire V, et al. J Med Genet. 2003 Apr;40(4):300-3. doi: 10.1136/jmg.40.4.300. J Med Genet. 2003. PMID: 12676904 Free PMC article. No abstract available.

10

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

Rio M, Clech L, Amiel J, Faivre L, Lyonnet S, Le Merrer M, Odent S, Lacombe D, Edery P, Brauner R, Raoul O, Gosset P, Prieur M, Vekemans M, Munnich A, Colleaux L, Cormier-Daire V. Rio M, et al. J Med Genet. 2003 Jun;40(6):436-40. doi: 10.1136/jmg.40.6.436. J Med Genet. 2003. PMID: 12807965 Free PMC article.

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