Odent S - Search Results

1

Phenotypic and molecular variability of the holoprosencephalic spectrum.

Lazaro L, Dubourg C, Pasquier L, Le Duff F, Blayau M, Durou MR, de la Pintière AT, Aguilella C, David V, Odent S. Lazaro L, et al. Among authors: odent s. Am J Med Genet A. 2004 Aug 15;129A(1):21-4. doi: 10.1002/ajmg.a.30110. Am J Med Genet A. 2004. PMID: 15266610

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. 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: odent s. Hum Genet. 1993 Apr;91(3):254-6. doi: 10.1007/BF00218266. Hum Genet. 1993. PMID: 8097485

4

Segregation analysis in nonsyndromic holoprosencephaly.

Odent S, Le Marec B, Munnich A, Le Merrer M, Bonaïti-Pellié C. Odent S, et al. Am J Med Genet. 1998 May 1;77(2):139-43. Am J Med Genet. 1998. PMID: 9605287

5

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: odent s. Hum Genet. 1998 Nov;103(5):626-7. doi: 10.1007/s004390050879. Hum Genet. 1998. PMID: 9860307 No abstract available.

6

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: odent s. 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

7

Gastric carcinoma in Sotos syndrome (cerebral gigantism).

Le Marec B, Pasquier L, Dugast C, Gosselin M, Odent S. Le Marec B, et al. Among authors: odent s. Ann Genet. 1999;42(2):113-6. Ann Genet. 1999. PMID: 10434127 Review.

8

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. Hum Mol Genet. 1999 Sep;8(9):1683-9. doi: 10.1093/hmg/8.9.1683. Hum Mol Genet. 1999. PMID: 10441331

9

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: odent s. Eur J Hum Genet. 2000 Oct;8(10):797-800. doi: 10.1038/sj.ejhg.5200540. Eur J Hum Genet. 2000. PMID: 11039582

10

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: odent s. Mol Hum Reprod. 2000 Dec;6(12):1063-7. doi: 10.1093/molehr/6.12.1063. Mol Hum Reprod. 2000. PMID: 11101688

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