Genomes and Genes
Christian P Hamel
- Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entityChristian P Hamel
Centre Hospitalier Regional et Universitaire, Centre de Référence Maladies Sensorielles Génétiques, Montpellier, France
Am J Ophthalmol 147:609-20. 2009..To describe a previously unreported clinical entity of progressive extensive macular atrophy and pseudodrusen-like appearance in middle-aged patients...
- Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosaMohamed Ksantini
INSERM 1051, Institute for Neurosciences of Montpellier, Montpellier, France
Eur J Ophthalmol 22:647-53. 2012..Gene identification in retinitis pigmentosa is a prerequisite to future therapies. Accordingly, autosomal recessive retinitis pigmentosa families were genotyped to search for causative mutations...
- Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa familiesMaxime Hebrard
INSERM U 1051, Institute for Neurosciences of Montpellier, 80 rue Augustin Fliche, Montpellier Cedex 5, France
Eur J Hum Genet 19:1256-63. 2011..Only two affected individuals in each sibship were sufficient to lead to mutation identification by screening the best candidate gene selected by a combination of gene mapping and phenotype characterization...
- Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysisIsabelle Meunier
Centre de Référence Maladies Sensorielles Génétiques, Hopital Gui de Chauliac, Montpellier, France
Ophthalmology 118:1130-6. 2011....
- Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogramSafouane Ben Salah
Genetics of Sensory Diseases and Department of Ophthalmology, Hospital of Montpellier, Montpellier, France
Am J Ophthalmol 145:1099-106. 2008..To describe patients with cone dystrophy and supernormal rod electroretinogram (ERG) and search for mutations in the recently described KCNV2 gene...
- Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome geneSalah Mohamed Cherif Titah
CHRU Montpellier, Centre de Référence Genetic Sensory Diseases, Montpellier, France
Eur J Ophthalmol 22:254-8. 2012..The presence of a cataract has been variably mentioned in WS...
- A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1Gaël Manes
INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France
BMC Med Genet 12:54. 2011..To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with autosomal dominant (ad) CRD...
- Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variantsLorenne Robert
INSERM U 583, Institut des Neurosciences de Montpellier, Montpellier, France
Ophthalmic Res 45:155-63. 2011..These results suggest that a CHM dog model may not be viable, as is the case for mouse and zebrafish...
- Fatp1 deficiency affects retinal light response and dark adaptation, and induces age-related alterationsKarim Chekroud
INSERM U1051, Institute for Neurosciences of Montpellier, CHU St Eloi, Montpellier, France
PLoS ONE 7:e50231. 2012..These anomalies lead us to speculate that the absence of FATP1 accelerates the aging process...
- Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variationsMohamed Ksantini
Genetics of Sensory Diseases, Hospital of Montpellier, Montpellier, France
Ophthalmic Genet 31:200-4. 2010..It is likely that mutations in RGR, RBP3, and possibly RBP1 occur rarely in inherited retinal dystrophies...
- Simple and efficient: validation of a cotton wick electrode for animal electroretinographyKarim Chekroud
INSERM U583, Institute for Neurosciences of Montpellier, CHU Saint Eloi, Montpellier, France
Ophthalmic Res 45:174-9. 2011..The need of a simple and effective electrode type has led us to search the efficacy of different types of electrodes used in practice and compare them with the modified cotton wick electrode...