Arnaud B - Search Results

1

Novel mutations in MYO7A and USH2A in Usher syndrome.

Maubaret C, Griffoin JM, Arnaud B, Hamel C. Maubaret C, et al. Among authors: arnaud b. Ophthalmic Genet. 2005 Mar;26(1):25-9. doi: 10.1080/13816810590918118. Ophthalmic Genet. 2005. PMID: 15823922

2

RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases.

Ksantini M, Sénéchal A, Humbert G, Arnaud B, Hamel CP. Ksantini M, et al. Among authors: arnaud b. Ophthalmic Genet. 2007 Mar;28(1):31-7. doi: 10.1080/13816810701202052. Ophthalmic Genet. 2007. PMID: 17454745

3

[Molecular genetics of pigmentary retinopathies: identification of mutations in CHM, RDS, RHO, RPE65, USH2A and XLRS1 genes].

Hamel CP, Griffoin JM, Bazalgette C, Lasquellec L, Duval PA, Bareil C, Beaufrère L, Bonnet S, Eliaou C, Marlhens F, Schmitt-Bernard CF, Tuffery S, Claustres M, Arnaud B. Hamel CP, et al. Among authors: arnaud b. J Fr Ophtalmol. 2000 Dec;23(10):985-95. J Fr Ophtalmol. 2000. PMID: 11139690 French.

4

Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.

Sénéchal A, Humbert G, Surget MO, Bazalgette C, Bazalgette C, Arnaud B, Arndt C, Laurent E, Brabet P, Hamel CP. Sénéchal A, et al. Among authors: arnaud b. Am J Ophthalmol. 2006 Oct;142(4):702-4. doi: 10.1016/j.ajo.2006.04.057. Am J Ophthalmol. 2006. PMID: 17011878

5

A complex allele (1064delTC and IVS2 + 22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.

Bareil C, Hamel C, Arnaud B, Demaille J, Claustres M. Bareil C, et al. Among authors: arnaud b. Ophthalmic Genet. 1997 Sep;18(3):129-38. doi: 10.3109/13816819709057126. Ophthalmic Genet. 1997. PMID: 9361310

6

Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene.

Marlhens F, Griffoin JM, Bareil C, Arnaud B, Claustres M, Hamel CP. Marlhens F, et al. Among authors: arnaud b. Eur J Hum Genet. 1998 Sep-Oct;6(5):527-31. doi: 10.1038/sj.ejhg.5200205. Eur J Hum Genet. 1998. PMID: 9801879

7

Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998999ins4.

Bareil C, Hamel C, Pallarès-Ruiz N, Arnaud B, Demaille J, Claustres M. Bareil C, et al. Among authors: arnaud b. Ophthalmic Genet. 1999 Sep;20(3):173-82. doi: 10.1076/opge.20.3.173.2282. Ophthalmic Genet. 1999. PMID: 10521250

8

Retinal dystrophies caused by mutations in RPE65: assessment of visual functions.

Hamel CP, Griffoin JM, Lasquellec L, Bazalgette C, Arnaud B. Hamel CP, et al. Among authors: arnaud b. Br J Ophthalmol. 2001 Apr;85(4):424-7. doi: 10.1136/bjo.85.4.424. Br J Ophthalmol. 2001. PMID: 11264131 Free PMC article.

9

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy.

Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, Astarie-Dequeker C, Lasquellec L, Arnaud B, Ducommun B, Kaplan J, Hamel CP. Delettre C, et al. Among authors: arnaud b. Nat Genet. 2000 Oct;26(2):207-10. doi: 10.1038/79936. Nat Genet. 2000. PMID: 11017079

10

Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.

Bareil C, Hamel CP, Delague V, Arnaud B, Demaille J, Claustres M. Bareil C, et al. Among authors: arnaud b. Hum Genet. 2001 Apr;108(4):328-34. doi: 10.1007/s004390100496. Hum Genet. 2001. PMID: 11379879

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