David V - Search Results

1

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, Demurger F, Quélin C, Depienne C, Odent S, Nava C, David V, Pasquier L, Mignot C. Chérot E, et al. Among authors: david v. Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4. Clin Genet. 2018. PMID: 28708303 Free article.

2

[Argininosuccinic aciduria. A new case revealed by psychiatric disorders].

Odent S, Roussey M, Journel H, Betremieux P, David V, Le Marec B. Odent S, et al. Among authors: david v. J Genet Hum. 1989 Jan;37(1):39-42. J Genet Hum. 1989. PMID: 2715782 French.

3

Analysis of 160 CF chromosomes: detection of a novel mutation in exon 20.

Dorval I, Odent S, Jezequel P, Journel H, Chauvel B, Dabadie A, Roussey M, Le Gall JY, Le Marec B, David V, et al. Dorval I, et al. Among authors: david v. Hum Genet. 1993 Apr;91(3):254-6. doi: 10.1007/BF00218266. Hum Genet. 1993. PMID: 8097485

4

FRAXE: the HindIII/OXE20 restriction polymorphism is not a rare variant.

Blayau M, Odent S, Dubourg C, David V. Blayau M, et al. Among authors: david v. Hum Genet. 1998 Nov;103(5):626-7. doi: 10.1007/s004390050879. Hum Genet. 1998. PMID: 9860307 No abstract available.

5

Identification of three novel mutations in the dystrophin gene detected by the heteroduplex/SSCA screening procedure. Mutations in brief no. 222. Online.

Dubourg C, Odent S, Fergelot P, Le Gall JY, David V, Blayau M. Dubourg C, et al. Among authors: david v. Hum Mutat. 1999;13(2):173. doi: 10.1002/(SICI)1098-1004(1999)13:2<173::AID-HUMU20>3.0.CO;2-3. Hum Mutat. 1999. PMID: 10094565

6

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.

Odent S, Atti-Bitach T, Blayau M, Mathieu M, Aug J, Delezo de AL, Gall JY, Le Marec B, Munnich A, David V, Vekemans M. Odent S, et al. Among authors: david v. Hum Mol Genet. 1999 Sep;8(9):1683-9. doi: 10.1093/hmg/8.9.1683. Hum Mol Genet. 1999. PMID: 10441331

7

Eukaryotic translation termination factor gene (ETF1/eRF1) maps at D5S500 in a commonly deleted region of chromosome 5q31 in malignant myeloid diseases.

Guenet L, Henry C, Toutain B, Dubourg C, Le Gall JY, David V, Le Treut A. Guenet L, et al. Among authors: david v. Cytogenet Cell Genet. 2000;88(1-2):82-6. doi: 10.1159/000015491. Cytogenet Cell Genet. 2000. PMID: 10773672

8

A new mutation in the six-domain of SIX3 gene causes holoprosencephaly.

Pasquier L, Dubourg C, Blayau M, Lazaro L, Le Marec B, David V, Odent S. Pasquier L, et al. Among authors: david v. Eur J Hum Genet. 2000 Oct;8(10):797-800. doi: 10.1038/sj.ejhg.5200540. Eur J Hum Genet. 2000. PMID: 11039582

9

Molecular screening of the CFTR gene in men with anomalies of the vas deferens: identification of three novel mutations.

Jézéquel P, Dubourg C, Le Lannou D, Odent S, Le Gall JY, Blayau M, Le Treut A, David V. Jézéquel P, et al. Among authors: david v. Mol Hum Reprod. 2000 Dec;6(12):1063-7. doi: 10.1093/molehr/6.12.1063. Mol Hum Reprod. 2000. PMID: 11101688

10

[Genetic study of holoprosencephaly].

Dubourg C, Lazaro L, Blayau M, Pasquier L, Durou MR, Odent S, David V. Dubourg C, et al. Among authors: david v. Ann Biol Clin (Paris). 2003 Nov-Dec;61(6):679-87. Ann Biol Clin (Paris). 2003. PMID: 14711609 Free article. French.

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