Odent S - Search Results

1

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.

Traiffort E, Dubourg C, Faure H, Rognan D, Odent S, Durou MR, David V, Ruat M. Traiffort E, et al. Among authors: odent s. J Biol Chem. 2004 Oct 8;279(41):42889-97. doi: 10.1074/jbc.M405161200. Epub 2004 Jul 28. J Biol Chem. 2004. PMID: 15292211 Free article.

2

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

3

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.

4

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

5

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

6

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

7

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

8

Holoprosencephaly due to mutations in ZIC2: alanine tract expansion mutations may be caused by parental somatic recombination.

Brown LY, Odent S, David V, Blayau M, Dubourg C, Apacik C, Delgado MA, Hall BD, Reynolds JF, Sommer A, Wieczorek D, Brown SA, Muenke M. Brown LY, et al. Among authors: odent s. Hum Mol Genet. 2001 Apr 1;10(8):791-6. doi: 10.1093/hmg/10.8.791. Hum Mol Genet. 2001. PMID: 11285244

9

Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations.

Aguilella C, Dubourg C, Attia-Sobol J, Vigneron J, Blayau M, Pasquier L, Lazaro L, Odent S, David V. Aguilella C, et al. Among authors: odent s. Hum Genet. 2003 Feb;112(2):131-4. doi: 10.1007/s00439-002-0862-8. Epub 2002 Nov 21. Hum Genet. 2003. PMID: 12522553

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: odent s. 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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