Bonneau D - Search Results

1

Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.

Mortemousque B, Amati-Bonneau P, Couture F, Graffan R, Dubois S, Colin J, Bonneau D, Morissette J, Lacombe D, Raymond V. Mortemousque B, et al. Among authors: bonneau d. Arch Ophthalmol. 2004 Oct;122(10):1527-33. doi: 10.1001/archopht.122.10.1527. Arch Ophthalmol. 2004. PMID: 15477465

2

[An OPA3 gene mutation is responsible for the disease associating optic atrophy and cataract with extrapyramidal signs].

Verny C, Amati-Bonneau P, Dubas F, Malthiéry Y, Reynier P, Bonneau D. Verny C, et al. Among authors: bonneau d. Rev Neurol (Paris). 2005 Apr;161(4):451-4. doi: 10.1016/s0035-3787(05)85075-1. Rev Neurol (Paris). 2005. PMID: 15924081 French.

3

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.

Nochez Y, Arsene S, Gueguen N, Chevrollier A, Ferré M, Guillet V, Desquiret V, Toutain A, Bonneau D, Procaccio V, Amati-Bonneau P, Pisella PJ, Reynier P. Nochez Y, et al. Among authors: bonneau d. Mol Vis. 2009;15:598-608. Epub 2009 Mar 27. Mol Vis. 2009. PMID: 19325939 Free PMC article.

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: bonneau d. Am J Ophthalmol. 2003 Dec;136(6):1170-1. doi: 10.1016/s0002-9394(03)00665-2. Am J Ophthalmol. 2003. PMID: 14644237

5

W syndrome: report of three cases and review.

Goizet C, Bonneau D, Lacombe D. Goizet C, et al. Among authors: bonneau d. Am J Med Genet. 1999 Dec 22;87(5):446-9. Am J Med Genet. 1999. PMID: 10594887 Review.

6

Eight previously unidentified mutations found in the OA1 ocular albinism gene.

Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, Bonneau D, Munier FL, Schorderet DF, Levin AV, Héon E, Sutherland J, Lacombe D, Said E, Mezer E, Kaplan J, Dufier JL, Marsac C, Menasche M, Abitbol M. Mayeur H, et al. Among authors: bonneau d. BMC Med Genet. 2006 Apr 28;7:41. doi: 10.1186/1471-2350-7-41. BMC Med Genet. 2006. PMID: 16646960 Free PMC article.

7

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.

Verny C, Guegen N, Desquiret V, Chevrollier A, Prundean A, Dubas F, Cassereau J, Ferre M, Amati-Bonneau P, Bonneau D, Reynier P, Procaccio V. Verny C, et al. Among authors: bonneau d. Mitochondrion. 2011 Jan;11(1):70-5. doi: 10.1016/j.mito.2010.07.006. Epub 2010 Jul 22. Mitochondrion. 2011. PMID: 20656066

8

Hypopituitarism in Patients with Blepharophimosis and FOXL2 Mutations.

Castets S, Roucher-Boulez F, Saveanu A, Mallet-Motak D, Chabre O, Amati-Bonneau P, Bonneau D, Girardin C, Morel Y, Villanueva C, Brue T, Reynaud R, Nicolino M. Castets S, et al. Among authors: bonneau d. Horm Res Paediatr. 2020;93(1):30-39. doi: 10.1159/000507249. Epub 2020 May 26. Horm Res Paediatr. 2020. PMID: 32454486

9

Lujan-Fryns syndrome (X-linked mental retardation with marfanoid habitus): report of three cases and review.

Lacombe D, Bonneau D, Verloes A, Couet D, Koulischer L, Battin J. Lacombe D, et al. Among authors: bonneau d. Genet Couns. 1993;4(3):193-8. Genet Couns. 1993. PMID: 8267926

10

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: bonneau d. Ann Neurol. 2008 Jun;63(6):794-8. doi: 10.1002/ana.21385. Ann Neurol. 2008. PMID: 18496845 Free article.

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