Odent S - Search Results

1

Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.

de Saint Basile G, Lagelouse RD, Lambert N, Schwarz K, Le Mareck B, Odent S, Schlegel N, Fischer A. de Saint Basile G, et al. Among authors: odent s. J Pediatr. 1996 Jul;129(1):56-62. doi: 10.1016/s0022-3476(96)70190-7. J Pediatr. 1996. PMID: 8757563

2

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.

Kaplan J, Gerber S, Larget-Piet D, Rozet JM, Dollfus H, Dufier JL, Odent S, Postel-Vinay A, Janin N, Briard ML, et al. Kaplan J, et al. Among authors: odent s. Nat Genet. 1993 Nov;5(3):308-11. doi: 10.1038/ng1193-308. Nat Genet. 1993. PMID: 8275096

3

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. Among authors: odent s. Eur J Hum Genet. 2002 Nov;10(11):699-706. doi: 10.1038/sj.ejhg.5200879. Eur J Hum Genet. 2002. PMID: 12404101

4

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization.

Brioude F, Netchine I, Praz F, Le Jule M, Calmel C, Lacombe D, Edery P, Catala M, Odent S, Isidor B, Lyonnet S, Sigaudy S, Leheup B, Audebert-Bellanger S, Burglen L, Giuliano F, Alessandri JL, Cormier-Daire V, Laffargue F, Blesson S, Coupier I, Lespinasse J, Blanchet P, Boute O, Baumann C, Polak M, Doray B, Verloes A, Viot G, Le Bouc Y, Rossignol S. Brioude F, et al. Among authors: odent s. Hum Mutat. 2015 Sep;36(9):894-902. doi: 10.1002/humu.22824. Epub 2015 Aug 6. Hum Mutat. 2015. PMID: 26077438

5

Oto-palato-digital syndrome type I: further evidence for assignment of the locus to Xq28.

Biancalana V, Le Marec B, Odent S, van den Hurk JA, Hanauer A. Biancalana V, et al. Among authors: odent s. Hum Genet. 1991 Dec;88(2):228-30. doi: 10.1007/BF00206078. Hum Genet. 1991. PMID: 1757098

6

Stargardt's disease is not allelic to the genes for neuronal ceroid lipofuscinoses.

Gerber S, Odent S, Postel-Vinay A, Janin N, Dufier JL, Munnich A, Frezal J, Kaplan J. Gerber S, et al. Among authors: odent s. J Med Genet. 1994 Mar;31(3):222-3. doi: 10.1136/jmg.31.3.222. J Med Genet. 1994. PMID: 8014971 Free PMC article.

7

Mapping of a congenital microcoria locus to 13q31-q32.

Rouillac C, Roche O, Marchant D, Bachner L, Kobetz A, Toulemont PJ, Orssaud C, Urvoy M, Odent S, Le Marec B, Abitbol M, Dufier JL. Rouillac C, et al. Among authors: odent s. Am J Hum Genet. 1998 May;62(5):1117-22. doi: 10.1086/301841. Am J Hum Genet. 1998. PMID: 9545411 Free PMC article.

8

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

9

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Muller J, Stoetzel C, Vincent MC, Leitch CC, Laurier V, Danse JM, Hellé S, Marion V, Bennouna-Greene V, Vicaire S, Megarbane A, Kaplan J, Drouin-Garraud V, Hamdani M, Sigaudy S, Francannet C, Roume J, Bitoun P, Goldenberg A, Philip N, Odent S, Green J, Cossée M, Davis EE, Katsanis N, Bonneau D, Verloes A, Poch O, Mandel JL, Dollfus H. Muller J, et al. Among authors: odent s. Hum Genet. 2010 Mar;127(5):583-93. doi: 10.1007/s00439-010-0804-9. Epub 2010 Feb 23. Hum Genet. 2010. PMID: 20177705 Free PMC article.

10

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, Odent S, Nitschke P, Munnich A, Faivre L, Cormier-Daire V. Le Goff C, et al. Among authors: odent s. Hum Mutat. 2013 Jan;34(1):88-92. doi: 10.1002/humu.22216. Epub 2012 Oct 16. Hum Mutat. 2013. PMID: 22965468

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