Christian P Hamel

Summary

Country: France

Publications

  1. doi request reprint Gene discovery and prevalence in inherited retinal dystrophies
    Christian P Hamel
    INSERM U 1051, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, BP 74103, 80, rue Augustin Fliche, 34091 Montpellier Cedex 5, France Electronic address
    C R Biol 337:160-6. 2014
  2. pmc Dominant optic atrophy
    Guy Lenaers
    Institut des Neurosciences de Montpellier, U1051 de l INSERM, Université de Montpellier I et II, BP 74103, F 34091 Montpellier cedex 05, France
    Orphanet J Rare Dis 7:46. 2012
  3. doi request reprint 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
  4. doi request reprint Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1
    Elodie Dessalces
    Genetics of Sensory Diseases, Centre Hospitalier Régional Universitaire de Montpellier, Montpellier, France
    JAMA Ophthalmol 131:1314-23. 2013
  5. doi request reprint 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
  6. pmc 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
  7. doi request reprint 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
  8. doi request reprint 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
  9. doi request reprint Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management
    Beatrice Bocquet
    CHRU Montpellier, Genetics of Sensory Diseases, Montpellier, France
    Ophthalmic Epidemiol 20:13-25. 2013
  10. pmc 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

Collaborators

Detail Information

Publications24

  1. doi request reprint Gene discovery and prevalence in inherited retinal dystrophies
    Christian P Hamel
    INSERM U 1051, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, BP 74103, 80, rue Augustin Fliche, 34091 Montpellier Cedex 5, France Electronic address
    C R Biol 337:160-6. 2014
    ..A similar study is currently undergoing for autosomal recessive retinitis pigmentosa. Finally, we have identified IMPG1 as a responsible gene for rare cases of macular vitelliform dystrophy with a dominant or recessive inheritance. ..
  2. pmc Dominant optic atrophy
    Guy Lenaers
    Institut des Neurosciences de Montpellier, U1051 de l INSERM, Université de Montpellier I et II, BP 74103, F 34091 Montpellier cedex 05, France
    Orphanet J Rare Dis 7:46. 2012
    ..The disease affects primary the retinal ganglion cells (RGC) and their axons forming the optic nerve, which transfer the visual information from the photoreceptors to the lateral geniculus in the brain...
  3. doi request reprint 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...
  4. doi request reprint Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1
    Elodie Dessalces
    Genetics of Sensory Diseases, Centre Hospitalier Régional Universitaire de Montpellier, Montpellier, France
    JAMA Ophthalmol 131:1314-23. 2013
    ..Retinitis punctata albescens (RPA) is an autosomal recessive form of retinitis pigmentosa characterized by white dotlike deposits in the fundus, in most cases caused by mutations in RLBP1...
  5. doi request reprint 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...
  6. pmc 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...
  7. doi request reprint 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...
  8. doi request reprint 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
    ....
  9. doi request reprint Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management
    Beatrice Bocquet
    CHRU Montpellier, Genetics of Sensory Diseases, Montpellier, France
    Ophthalmic Epidemiol 20:13-25. 2013
    ..Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical and molecular features. The relative prevalence of these conditions was determined in Southern France...
  10. pmc 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...
  11. ncbi request reprint Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens
    Ghyslaine Humbert
    INSERM Unité 583, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, BP 74103, 80 rue Augustin Fliche, 34091 Montpellier Cedex 5, France
    Invest Ophthalmol Vis Sci 47:4719-24. 2006
    ..RPA is associated mostly with mutations in RLBP1 and occasionally in RHO, RDS, and RDH5. In this study, mutations were sought in RLBP1, which encodes the retinol binding protein CRALBP in patients with typical RPA...
  12. doi request reprint 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...
  13. pmc Mutations in IMPG1 cause vitelliform macular dystrophies
    Gaël Manes
    INSERM U1051, Institute for Neurosciences of Montpellier, Universite Montpellier 1, Montpellier, France
    Am J Hum Genet 93:571-8. 2013
    ..We conclude that IMPG1 mutations cause both autosomal-dominant and -recessive forms of VMD, thus indicating that impairment of the interphotoreceptor matrix might be a general cause of VMD. ..
  14. ncbi request reprint RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases
    Mohamed Ksantini
    INSERM, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, Montpellier, Cedex, France
    Ophthalmic Genet 28:31-7. 2007
    ..We conclude that RRH is not a frequent gene in retinitis pigmentosa...
  15. doi request reprint 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...
  16. doi request reprint 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...
  17. pmc FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferase
    Thomas J P Guignard
    INSERM U583, Institut des Neurosciences de Montpellier, Montpellier 34091, France
    J Biol Chem 285:18759-68. 2010
    ..The identification of this new visual cycle inhibitory component in RPE may contribute to further understanding of retinal pathogenesis...
  18. doi request reprint The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse
    Emmanuelle Sarzi
    Institut des Neurosciences de Montpellier, INSERM U1051, Université Montpellier I et II CHU St Eloi, 80, rue Auguste Fliche, 34091 Montpellier Cedex 5, France
    Brain 135:3599-613. 2012
    ..Thus, these results support the concept that Opa1 protects against neuronal degeneration and opens new perspectives for the exploration and the treatment of mitochondrial diseases...
  19. doi request reprint 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...
  20. pmc Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations
    Beatrice Bocquet
    INSERM U 1051, Institute for Neurosciences of Montpellier, Montpellier, France Université Montpellier 1, Montpellier, France Université Montpellier 2, Montpellier, France
    Mol Vis 19:2487-500. 2013
    ..To date, 36 genes are known to cause arRP, rendering the molecular diagnosis a challenge. The aim of this study was to use homozygosity mapping to identify the causative mutation in a series of inbred families with arRP...
  21. pmc 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...
  22. ncbi request reprint Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis
    Audrey Sénéchal
    Institut National de la Sante et de la Recherche Medicale INSERM, Institut des Neurosciences de Montpellier, Hopital Saint Eloi, Montpellier Cedex 5, France
    Am J Ophthalmol 142:702-4. 2006
    ..To evaluate the mutation prevalence and phenotype in genes involved in the ocular retinoid metabolism...
  23. pmc Cone rod dystrophies
    Christian P Hamel
    INSERM U 583, Physiopathologie et Therapie des deficits sensoriels et moteurs, Institut des Neurosciences de Montpellier, BP 74103, 80 av, Augustin Fliche, 34091 Montpellier Cedex 05, France
    Orphanet J Rare Dis 2:7. 2007
    ..Management aims at slowing down the degenerative process, treating the complications and helping patients to cope with the social and psychological impact of blindness...
  24. doi request reprint Choroideremia: towards a therapy
    Vasiliki Kalatzis
    Institut National de la Santé et de la Recherche Médicale U1051, Institute for Neurosciences of Montpellier, Montpellier, France
    Am J Ophthalmol 156:433-7.e3. 2013
    ..To review what progress has been made towards the application of ocular gene therapy to prevent progressive vision loss in patients affected by choroideremia...