Christian P Hamel

Summary

Country: France

Publications

  1. ncbi Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity
    Christian P Hamel
    Centre Hospitalier Regional et Universitaire, Centre de Référence Maladies Sensorielles Génétiques, Montpellier, France
    Am J Ophthalmol 147:609-20. 2009
  2. ncbi Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa
    Mohamed Ksantini
    INSERM 1051, Institute for Neurosciences of Montpellier, Montpellier, France
    Eur J Ophthalmol 22:647-53. 2012
  3. ncbi Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families
    Maxime 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
  4. ncbi Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis
    Isabelle Meunier
    Centre de Référence Maladies Sensorielles Génétiques, Hopital Gui de Chauliac, Montpellier, France
    Ophthalmology 118:1130-6. 2011
  5. ncbi Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram
    Safouane Ben Salah
    Genetics of Sensory Diseases and Department of Ophthalmology, Hospital of Montpellier, Montpellier, France
    Am J Ophthalmol 145:1099-106. 2008
  6. ncbi Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene
    Salah Mohamed Cherif Titah
    CHRU Montpellier, Centre de Référence Genetic Sensory Diseases, Montpellier, France
    Eur J Ophthalmol 22:254-8. 2012
  7. ncbi A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1
    Gaël Manes
    INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France
    BMC Med Genet 12:54. 2011
  8. ncbi Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants
    Lorenne Robert
    INSERM U 583, Institut des Neurosciences de Montpellier, Montpellier, France
    Ophthalmic Res 45:155-63. 2011
  9. ncbi Fatp1 deficiency affects retinal light response and dark adaptation, and induces age-related alterations
    Karim Chekroud
    INSERM U1051, Institute for Neurosciences of Montpellier, CHU St Eloi, Montpellier, France
    PLoS ONE 7:e50231. 2012
  10. ncbi Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations
    Mohamed Ksantini
    Genetics of Sensory Diseases, Hospital of Montpellier, Montpellier, France
    Ophthalmic Genet 31:200-4. 2010

Collaborators

  • Sabine Defoort-Dhellemmes
  • Isabelle Meunier
  • Carl Arndt
  • Gaël Manes
  • Bernard Puech
  • Guy Lenaers
  • Vasiliki Kalatzis
  • Patrizia Amati-Bonneau
  • Gilles Chaudieu
  • Karim Chekroud
  • Mohamed Ksantini
  • Beatrice Bocquet
  • Audrey Sénéchal
  • Philippe Brabet
  • Salah Mohamed Cherif Titah
  • Marie O Pequignot
  • Lorenne Robert
  • Maxime Hebrard
  • Séverine Lopez
  • Safouane Ben Salah
  • Stephane Gregoire
  • Pascal Reynier
  • Catherine Blanchet
  • Veronique Paquis-Flucklinger
  • Laurent Guillou
  • Lionel Bretillon
  • Chantal Cazevieille
  • Estèle Lafont
  • Emilie Brun
  • Gilles Ducharme
  • Gérard Rondouin
  • Danièle Basset
  • Anne Bolland-Augé
  • Delphine Coustes-Chazalette
  • Emilie Hérald
  • Catherine Andre
  • Diana Zelenika
  • Laetitia Herbin
  • Claudie Malrieu Eliaou
  • Christian Bazalgette
  • Xavier Zanlonghi
  • Cécile Bazalgette
  • Satomi Kamei

Detail Information

Publications11

  1. ncbi Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity
    Christian 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...
  2. ncbi Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa
    Mohamed 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...
  3. ncbi Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families
    Maxime 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...
  4. ncbi Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis
    Isabelle Meunier
    Centre de Référence Maladies Sensorielles Génétiques, Hopital Gui de Chauliac, Montpellier, France
    Ophthalmology 118:1130-6. 2011
    ....
  5. ncbi Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram
    Safouane 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...
  6. ncbi Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene
    Salah 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...
  7. ncbi A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1
    Gaël 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...
  8. ncbi Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants
    Lorenne 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...
  9. ncbi Fatp1 deficiency affects retinal light response and dark adaptation, and induces age-related alterations
    Karim 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...
  10. ncbi Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations
    Mohamed 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...
  11. ncbi Simple and efficient: validation of a cotton wick electrode for animal electroretinography
    Karim 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...