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Bernard Arnaud
Observed name:
ARNAUD, Bernard
Observed institutions:
Centre National de la Recherche Scientifique,
Inserm,
Université de Montpellier,
Centre Hospitalier Universitaire de Montpellier,
Hôpital Gui de Chauliac,
Hôpital Lapeyronie,
Institute for Neurosciences of Montpellier,
Institut de Génétique Humaine,
Université Montpellier 1
show all 9
OpenAlex ID:
A5111467674
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
2000
·
Cécile Delettre
, Guy Lenaers
, et al.
·
Nature Genetics
·
1,493
Mutations in RPE65 cause Leber's congenital amaurosis
1997
·
Françoise Marlhens
, Corinne Bareil
, et al.
·
Nature Genetics
·
614
Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness
1996
·
Thaddeus P. Dryja
, Lauri B. Hahn
, et al.
·
Nature Genetics
·
197
Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa
2001
·
Corinne Bareil
, Christian Hamel
, et al.
·
Human Genetics
·
119
Keratectasia Induced by Laser in situ Keratomileusis in Keratoconus
2000
·
Clair-Florent M Schmitt-Bernard
, Cécile Lesage
, et al.
·
Journal of Refractive Surgery
·
103
Extensive Macular Atrophy with Pseudodrusen-like Appearance: A New Clinical Entity
2009
·
Christian P. Hamel
, Isabelle Meunier
, et al.
·
American Journal of Ophthalmology
·
79
Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene
1998
·
Françoise Marlhens
, Jean-Michel Griffoin
, et al.
·
European Journal of Human Genetics
·
61
Screening Genes of the Retinoid Metabolism: Novel LRAT Mutation in Leber Congenital Amaurosis
2006
·
Audrey Sénéchal
, Ghyslaine Humbert
, et al.
·
American Journal of Ophthalmology
·
44
Homozygous Deletion Related to Alu Repeats in RLBP1 Causes Retinitis Punctata Albescens
2006
·
Ghyslaine Humbert
, Ce´cile Delettre
, et al.
·
Investigative Ophthalmology & Visual Science
·
38
In Vitro Creation of Amyloid Fibrils from Native and Arg124Cys Mutated βIGH3(110–131) Peptides, and Its Relevance for Lattice Corneal Amyloid Dystrophy Type I
2000
·
Clair-Florent Schmitt-Bernard
, Alain Chavanieu
, et al.
·
Biochemical and Biophysical Research Communications
·
31
BIGH3 (TGFBI) Arg124 mutations influence the amyloid conversion of related peptides in vitro
2002
·
Clair‐Florent Schmitt‐Bernard
, Alain Chavanieu
, et al.
·
European Journal of Biochemistry
·
30
PDF
Erythrocyte Deformability Measurements in Patients with Glaucoma
1993
·
Andr??e Mary
, Isabelle Serre
, et al.
·
Journal of Glaucoma
·
29
A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness
2003
·
Felix Karl Jacobi
, Christian P. Hamel
, et al.
·
American Journal of Ophthalmology
·
23
Keratographic analysis of a family with keratoconus in identical twins
2000
·
Clair-Florent Schmitt-Bernard
, Christelle D. Schneider
, et al.
·
Journal of Cataract & Refractive Surgery
·
22
Retinal Electrophysiological Results in Patients Receiving Lamotrigine Monotherapy
2005
·
Carl F. Arndt
, Jeremie Husson
, et al.
·
Epilepsia
·
19
Novel Mutations inMYO7AandUSH2Ain Usher Syndrome
2005
·
Cécilia Maubaret
, Jean-Michel Griffoin
, et al.
·
Ophthalmic Genetics
·
16
Molecular analysis of the rhodopsin gene in southern France: identification of the first duplication responsible for retinitis pigmentosa, c.998^999ins4
1999
·
Corinne Bareil
, Christian Hamel
, et al.
·
Ophthalmic Genetics
·
14
W179R: A novel missense mutation in the peripherin/RDS gene in a family with autosomal dominant retinitis pigmentosa
2000
·
Corinne Bareil
, Val�rie Delague
, et al.
·
Human Mutation
·
11
Macroglial alterations after isolated optic nerve sheath fenestration in rabbit.
2002
·
Max Villain
, Françoise Sandillon
, et al.
·
PubMed
·
9
A complex allele (1064 del TC and IVS2 + 22 ins 7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy
1997
·
Corinne Bareil
, Christian Hamel
, et al.
·
Ophthalmic Genetics
·
9
Effect of acetazolamide on ocular hemodynamics in pseudotumor cerebri associated with inflammatory bowel disease
2002
·
Max A. Villain
, Georges P. Pageaux
, et al.
·
American Journal of Ophthalmology
·
8
Accuracy of IRAS GT interferometer and potential acuity meter prediction of visual acuity after phacoemulsification
2002
·
Cécile Le Sage
, Christian Bazalgette
, et al.
·
Journal of Cataract & Refractive Surgery
·
6
Lattice corneal dystrophy
2000
·
Clair-Florent Schmitt-Bernard
, Mireille Claustres
, et al.
·
Ophthalmology
·
5
PDF
Different Mutations in RPE65 Are Associated with Variability in the Severity of Retinal Dystrophy
2007
·
Christian P. Hamel
, Françoise Marlhens
, et al.
·
Springer eBooks
·
4
RRH, Encoding the RPE-Expressed Opsin-Like Peropsin, Is Not Mutated in Retinitis Pigmentosa and Allied Diseases
2007
·
Mohamed Ksantini
, Audrey Sénéchal
, et al.
·
Ophthalmic Genetics
·
2
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Works count:
29
Citation count:
2,987
H-index:
16
I10-index:
18
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