Odent S - Search Results

1

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

Stoetzel C, Laurier V, Davis EE, Muller J, Rix S, Badano JL, Leitch CC, Salem N, Chouery E, Corbani S, Jalk N, Vicaire S, Sarda P, Hamel C, Lacombe D, Holder M, Odent S, Holder S, Brooks AS, Elcioglu NH, Silva ED, Rossillion B, Sigaudy S, de Ravel TJ, Lewis RA, Leheup B, Verloes A, Amati-Bonneau P, Mégarbané A, Poch O, Bonneau D, Beales PL, Mandel JL, Katsanis N, Dollfus H. Stoetzel C, et al. Among authors: odent s. Nat Genet. 2006 May;38(5):521-4. doi: 10.1038/ng1771. Epub 2006 Apr 2. Nat Genet. 2006. PMID: 16582908

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

Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses.

Bonneau D, Maréchaud M, Odent S, Piegay I, Godard A, Amati P. Bonneau D, et al. Among authors: odent s. Am J Med Genet. 1999 Jun 4;84(4):373-6. doi: 10.1002/(sici)1096-8628(19990604)84:4<373::aid-ajmg13>3.0.co;2-8. Am J Med Genet. 1999. PMID: 10340655

4

The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene.

Amati-Bonneau P, Odent S, Derrien C, Pasquier L, Malthiéry Y, Reynier P, Bonneau D. Amati-Bonneau P, et al. Among authors: odent s. Am J Ophthalmol. 2003 Dec;136(6):1170-1. doi: 10.1016/s0002-9394(03)00665-2. Am J Ophthalmol. 2003. PMID: 14644237

5

Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1.

Amati-Bonneau P, Pasquier L, Lainey E, Ferré M, Odent S, Malthièry Y, Bonneau D, Reynier P. Amati-Bonneau P, et al. Among authors: odent s. Clin Genet. 2005 Jan;67(1):102-3. doi: 10.1111/j.1399-0004.2004.00358.x. Clin Genet. 2005. PMID: 15617556 No abstract available.

6

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

Amati-Bonneau P, Guichet A, Olichon A, Chevrollier A, Viala F, Miot S, Ayuso C, Odent S, Arrouet C, Verny C, Calmels MN, Simard G, Belenguer P, Wang J, Puel JL, Hamel C, Malthièry Y, Bonneau D, Lenaers G, Reynier P. Amati-Bonneau P, et al. Among authors: odent s. Ann Neurol. 2005 Dec;58(6):958-63. doi: 10.1002/ana.20681. Ann Neurol. 2005. PMID: 16240368

7

Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

Badens C, Lacoste C, Philip N, Martini N, Courrier S, Giuliano F, Verloes A, Munnich A, Leheup B, Burglen L, Odent S, Van Esch H, Levy N. Badens C, et al. Among authors: odent s. Clin Genet. 2006 Jul;70(1):57-62. doi: 10.1111/j.1399-0004.2006.00641.x. Clin Genet. 2006. PMID: 16813605

8

Hereditary optic neuropathies share a common mitochondrial coupling defect.

Chevrollier A, Guillet V, Loiseau D, Gueguen N, de Crescenzo MA, Verny C, Ferre M, Dollfus H, Odent S, Milea D, Goizet C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P. Chevrollier A, et al. Among authors: odent s. Ann Neurol. 2008 Jun;63(6):794-8. doi: 10.1002/ana.21385. Ann Neurol. 2008. PMID: 18496845 Free article.

9

Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress.

Quélin C, Bendavid C, Dubourg C, de la Rochebrochard C, Lucas J, Henry C, Jaillard S, Loget P, Loeuillet L, Lacombe D, Rival JM, David V, Odent S, Pasquier L. Quélin C, et al. Among authors: odent s. Eur J Med Genet. 2009 Jan-Feb;52(1):41-6. doi: 10.1016/j.ejmg.2008.10.002. Epub 2008 Oct 31. Eur J Med Genet. 2009. PMID: 19022413

10

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P, Amati-Bonneau P. Ferré M, et al. Among authors: odent s. Hum Mutat. 2009 Jul;30(7):E692-705. doi: 10.1002/humu.21025. Hum Mutat. 2009. PMID: 19319978 Free article.

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