Cormier-Daire V - Search Results

1

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome.

Tessadori F, Duran K, Knapp K, Fellner M; Deciphering Developmental Disorders Study; Smithson S, Beleza Meireles A, Elting MW, Waisfisz Q, O'Donnell-Luria A, Nowak C, Douglas J, Ronan A, Brunet T, Kotzaeridou U, Svihovec S, Saenz MS, Thiffault I, Del Viso F, Devine P, Rego S, Tenney J, van Haeringen A, Ruivenkamp CAL, Koene S, Robertson SP, Deshpande C, Pfundt R, Verbeek N, van de Kamp JM, Weiss JMM, Ruiz A, Gabau E, Banne E, Pepler A, Bottani A, Laurent S, Guipponi M, Bijlsma E, Bruel AL, Sorlin A, Willis M, Powis Z, Smol T, Vincent-Delorme C, Baralle D, Colin E, Revencu N, Calpena E, Wilkie AOM, Chopra M, Cormier-Daire V, Keren B, Afenjar A, Niceta M, Terracciano A, Specchio N, Tartaglia M, Rio M, Barcia G, Rondeau S, Colson C, Bakkers J, Mace PD, Bicknell LS, van Haaften G. Tessadori F, et al. Am J Hum Genet. 2022 Apr 7;109(4):750-758. doi: 10.1016/j.ajhg.2022.02.003. Epub 2022 Feb 23. Am J Hum Genet. 2022. PMID: 35202563 Free PMC article.

2

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.

Bénit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rötig A. Bénit P, et al. Am J Hum Genet. 2001 Jun;68(6):1344-52. doi: 10.1086/320603. Epub 2001 May 7. Am J Hum Genet. 2001. PMID: 11349233 Free PMC article.

3

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

4

Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.

Faivre L, Mégarbané A, Alswaid A, Zylberberg L, Aldohayan N, Campos-Xavier B, Bacq D, Legeai-Mallet L, Bonaventure J, Munnich A, Cormier-Daire V. Faivre L, et al. Hum Genet. 2002 Apr;110(4):366-70. doi: 10.1007/s00439-002-0689-3. Epub 2002 Mar 13. Hum Genet. 2002. PMID: 11941487

5

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

Chol M, Lebon S, Bénit P, Chretien D, de Lonlay P, Goldenberg A, Odent S, Hertz-Pannier L, Vincent-Delorme C, Cormier-Daire V, Rustin P, Rötig A, Munnich A. Chol M, et al. J Med Genet. 2003 Mar;40(3):188-91. doi: 10.1136/jmg.40.3.188. J Med Genet. 2003. PMID: 12624137 Free PMC article.

6

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L. Baujat G, et al. Am J Hum Genet. 2004 Apr;74(4):715-20. doi: 10.1086/383093. Epub 2004 Mar 1. Am J Hum Genet. 2004. PMID: 14997421 Free PMC article.

7

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Mégarbané A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V. Dagoneau N, et al. Am J Hum Genet. 2004 Nov;75(5):801-6. doi: 10.1086/425231. Epub 2004 Sep 13. Am J Hum Genet. 2004. PMID: 15368195 Free PMC article.

8

NIPBL mutations and genetic heterogeneity in Cornelia de Lange syndrome.

Borck G, Redon R, Sanlaville D, Rio M, Prieur M, Lyonnet S, Vekemans M, Carter NP, Munnich A, Colleaux L, Cormier-Daire V. Borck G, et al. J Med Genet. 2004 Dec;41(12):e128. doi: 10.1136/jmg.2004.026666. J Med Genet. 2004. PMID: 15591270 Free PMC article. No abstract available.

9

Clinical and molecular overlap in overgrowth syndromes.

Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Colleaux L, Cormier-Daire V. Baujat G, et al. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):4-11. doi: 10.1002/ajmg.c.30060. Am J Med Genet C Semin Med Genet. 2005. PMID: 16010674

10

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. Farrington-Rock C, et al. Hum Mutat. 2006 Jul;27(7):705-10. doi: 10.1002/humu.20348. Hum Mutat. 2006. PMID: 16752402

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

472 results

Search Page