Christian Hamel

Publications

• Spatially Resolved Spectral Sensitivities As a Potential Read-out Parameter in Clinical Gene Therapeutic Trials
  Ophthalmic Research. Jul, 2017  |   Pubmed ID: 28697496
• Fatty Acid Transport Protein 1 Regulates Retinoid Metabolism and Photoreceptor Development in Mouse Retina
  PloS One. 2017  |   Pubmed ID: 28672005
• Clinico-molecular Analysis of Eleven Patients with Hermansky-Pudlak Type 5 Syndrome, a Mild Form of HPS
  Pigment Cell & Melanoma Research. Jun, 2017  |   Pubmed ID: 28640947
• Cone Dystrophy or Macular Dystrophy Associated with Novel Autosomal Dominant GUCA1A Mutations
  Molecular Vision. 2017  |   Pubmed ID: 28442884
• Mosaic Synaptopathy and Functional Defects in Cav1.4 Heterozygous Mice and Human Carriers of CSNB2
  Human Molecular Genetics. Jan, 2017  |   Pubmed ID: 28365780
• Novel Splice-site Mutation in TTLL5 Causes Cone Dystrophy in a Consanguineous Family
  Molecular Vision. 2017  |   Pubmed ID: 28356705
• LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells
  Investigative Ophthalmology & Visual Science. Mar, 2017  |   Pubmed ID: 28334377
• The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial
  Investigative Ophthalmology & Visual Science. Feb, 2017  |   Pubmed ID: 28159970
• Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice
  Investigative Ophthalmology & Visual Science. Feb, 2017  |   Pubmed ID: 28159969
• Adaptive Optics: a Tool for Screening Hydroxychloroquine-induced Maculopathy?
  Acta Ophthalmologica. Aug, 2017  |   Pubmed ID: 27805308
• LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13
  Retinal Cases & Brief Reports. Summer, 2017  |   Pubmed ID: 27203561
• A New Autosomal Dominant Eye and Lung Syndrome Linked to Mutations in TIMP3 Gene
  Scientific Reports. Sep, 2016  |   Pubmed ID: 27601084
• Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination
  American Journal of Human Genetics. Aug, 2016  |   Pubmed ID: 27486781
• Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights
  Ophthalmology. Oct, 2016  |   Pubmed ID: 27474146
• WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity
  Ophthalmology. Sep, 2016  |   Pubmed ID: 27395765
• Primary Leptomeningeal Melanocytic Tumour with a Plaque-like Blue Nevus in a Patient with Ocular Albinism
  European Journal of Dermatology : EJD. Oct, 2016  |   Pubmed ID: 27344970
• De Novo Intrachromosomal Gene Conversion from OPN1MW to OPN1LW in the Male Germline Results in Blue Cone Monochromacy
  Scientific Reports. Jun, 2016  |   Pubmed ID: 27339364
• Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial
  Ophthalmology. Sep, 2016  |   Pubmed ID: 27320518
• Increased Steroidogenesis Promotes Early-onset and Severe Vision Loss in Females with OPA1 Dominant Optic Atrophy
  Human Molecular Genetics. Jun, 2016  |   Pubmed ID: 27260406
• Confirmation of TENM3 Involvement in Autosomal Recessive Colobomatous Microphthalmia
  American Journal of Medical Genetics. Part A. Jul, 2016  |   Pubmed ID: 27103084
• Phloroglucinol Protects Retinal Pigment Epithelium and Photoreceptor Against All-trans-retinal-induced Toxicity and Inhibits A2E Formation
  Journal of Cellular and Molecular Medicine. Sep, 2016  |   Pubmed ID: 27072643
• Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness
  American Journal of Human Genetics. May, 2016  |   Pubmed ID: 27063057
• Clinical Evaluation and Cone Alterations in Choroideremia
  Ophthalmology. Aug, 2016  |   Pubmed ID: 26992839
• Pattern Dystrophy in a Female Carrier of RP2 Mutation
  Ophthalmic Genetics. 12, 2016  |   Pubmed ID: 26885761
• Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
  PloS One. 2016  |   Pubmed ID: 26766544
• A Dominant Mutation in MAPKAPK3, an Actor of P38 Signaling Pathway, Causes a New Retinal Dystrophy Involving Bruch's Membrane and Retinal Pigment Epithelium
  Human Molecular Genetics. Mar, 2016  |   Pubmed ID: 26744326
• Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations
  Human Mutation. Feb, 2016  |   Pubmed ID: 26629787
• OPA1-related Disorders: Diversity of Clinical Expression, Modes of Inheritance and Pathophysiology
  Neurobiology of Disease. Jun, 2016  |   Pubmed ID: 26311407
• Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies
  American Journal of Human Genetics. Nov, 2015  |   Pubmed ID: 26593267
• A Novel Mutation of AFG3L2 Might Cause Dominant Optic Atrophy in Patients with Mild Intellectual Disability
  Frontiers in Genetics. 2015  |   Pubmed ID: 26539208
• Optic Neuropathy, Cardiomyopathy, Cognitive Disability in Patients with a Homozygous Mutation in the Nuclear MTO1 and a Mitochondrial MT-TF Variant
  American Journal of Medical Genetics. Part A. Oct, 2015  |   Pubmed ID: 26061759
• [Genetic Ocular Diseases]
  La Revue Du Praticien. Apr, 2015  |   Pubmed ID: 26058181
• Predominantly Cone-System Dysfunction As Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome
  American Journal of Ophthalmology. Aug, 2015  |   Pubmed ID: 25982971
• Mutation in NDUFA13/GRIM19 Leads to Early Onset Hypotonia, Dyskinesia and Sensorial Deficiencies, and Mitochondrial Complex I Instability
  Human Molecular Genetics. Jul, 2015  |   Pubmed ID: 25901006
• Autosomal Recessive Retinitis Pigmentosa with RP1 Mutations is Associated with Myopia
  The British Journal of Ophthalmology. Oct, 2015  |   Pubmed ID: 25883087
• How Can We Prevent Myopia Progression?
  European Journal of Ophthalmology. Jul-Aug, 2015  |   Pubmed ID: 25655598
• Neuroradiological Findings Expand the Phenotype of OPA1-related Mitochondrial Dysfunction
  Journal of the Neurological Sciences. Feb, 2015  |   Pubmed ID: 25641387
• Novel Insights into the Molecular Pathogenesis of CYP4V2-associated Bietti's Retinal Dystrophy
  Molecular Genetics & Genomic Medicine. Jan, 2015  |   Pubmed ID: 25629076
• High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features
  American Journal of Ophthalmology. Feb, 2015  |   Pubmed ID: 25447119
• Proof of Concept for AAV2/5-mediated Gene Therapy in IPSC-derived Retinal Pigment Epithelium of a Choroideremia Patient
  Molecular Therapy. Methods & Clinical Development. 2014  |   Pubmed ID: 26015956
• Frequency and Clinical Pattern of Vitelliform Macular Dystrophy Caused by Mutations of Interphotoreceptor Matrix IMPG1 and IMPG2 Genes
  Ophthalmology. Dec, 2014  |   Pubmed ID: 25085631
• Mutational Screening of Splicing Factor Genes in Cases with Autosomal Dominant Retinitis Pigmentosa
  Molecular Vision. 2014  |   Pubmed ID: 24959063
• Enrichment of LOVD-USHbases with 152 USH2A Genotypes Defines an Extensive Mutational Spectrum and Highlights Missense Hotspots
  Human Mutation. Oct, 2014  |   Pubmed ID: 24944099
• Impairment of Visual Function and Retinal ER Stress Activation in Wfs1-deficient Mice
  PloS One. 2014  |   Pubmed ID: 24823368
• A Truncated Form of Rod Photoreceptor PDE6 β-subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-subunit
  PloS One. 2014  |   Pubmed ID: 24760071
• A Missense Mutation in the Splicing Factor Gene DHX38 is Associated with Early-onset Retinitis Pigmentosa with Macular Coloboma
  Journal of Medical Genetics. Jul, 2014  |   Pubmed ID: 24737827
• Gene Discovery and Prevalence in Inherited Retinal Dystrophies
  Comptes Rendus Biologies. Mar, 2014  |   Pubmed ID: 24702842
• Congenital Neutropenia with Retinopathy, a New Phenotype Without Intellectual Deficiency or Obesity Secondary to VPS13B Mutations
  American Journal of Medical Genetics. Part A. Feb, 2014  |   Pubmed ID: 24311531
• Long-term Follow-up of a Randomized Controlled Trial of Lichtenstein's Operation Versus Mesh Plug Repair for Inguinal Hernia
  Annals of Surgery. May, 2014  |   Pubmed ID: 24169195
• Mosaic Synaptopathy and Functional Defects in Cav1.4 Heterozygous Mice and Human Carriers of CSNB2
  Human Molecular Genetics. Mar, 2014  |   Pubmed ID: 24163243
• Homozygosity Mapping in Autosomal Recessive Retinitis Pigmentosa Families Detects Novel Mutations
  Molecular Vision. 2013  |   Pubmed ID: 24339724
• [Inherited Retinal Dystrophies: Contributions of Molecular Genetics]
  Biologie Aujourd'hui. 2013  |   Pubmed ID: 24103338
• Mutations in IMPG1 Cause Vitelliform Macular Dystrophies
  American Journal of Human Genetics. Sep, 2013  |   Pubmed ID: 23993198
• Early-onset Foveal Involvement in Retinitis Punctata Albescens with Mutations in RLBP1
  JAMA Ophthalmology. Oct, 2013  |   Pubmed ID: 23929416
• Choroideremia: Towards a Therapy
  American Journal of Ophthalmology. Sep, 2013  |   Pubmed ID: 23810476
• Clinical Utility Gene Card For: Achromatopsia - Update 2013
  European Journal of Human Genetics : EJHG. Nov, 2013  |   Pubmed ID: 23486539
• Sensorineural Hearing Loss in OPA1-linked Disorders
  Brain : a Journal of Neurology. Jul, 2013  |   Pubmed ID: 23384603
• Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management
  Ophthalmic Epidemiology. 2013  |   Pubmed ID: 23350551
• Whole-exome Sequencing Identifies LRIT3 Mutations As a Cause of Autosomal-recessive Complete Congenital Stationary Night Blindness
  American Journal of Human Genetics. Jan, 2013  |   Pubmed ID: 23246293
• The Human OPA1delTTAG Mutation Induces Premature Age-related Systemic Neurodegeneration in Mouse
  Brain : a Journal of Neurology. Dec, 2012  |   Pubmed ID: 23250881
• Fatp1 Deficiency Affects Retinal Light Response and Dark Adaptation, and Induces Age-related Alterations
  PloS One. 2012  |   Pubmed ID: 23166839
• BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging from Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome
  Archives of Ophthalmology. Nov, 2012  |   Pubmed ID: 23143442
• Mutations in NMNAT1 Cause Leber Congenital Amaurosis with Early-onset Severe Macular and Optic Atrophy
  Nature Genetics. Sep, 2012  |   Pubmed ID: 22842229
• Characterization of Pupil Responses to Blue and Red Light Stimuli in Autosomal Dominant Retinitis Pigmentosa Due to NR2E3 Mutation
  Investigative Ophthalmology & Visual Science. Aug, 2012  |   Pubmed ID: 22807301
• Dominant Optic Atrophy
  Orphanet Journal of Rare Diseases. Jul, 2012  |   Pubmed ID: 22776096
• Whole-exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-recessive Complete Congenital Stationary Night Blindness
  American Journal of Human Genetics. Feb, 2012  |   Pubmed ID: 22325361
• Homozygous Mutation in MERTK Causes Severe Autosomal Recessive Retinitis Pigmentosa
  European Journal of Ophthalmology. Jul-Aug, 2012  |   Pubmed ID: 22180149
• Non-USH2A Mutations in USH2 Patients
  Human Mutation. Mar, 2012  |   Pubmed ID: 22147658
• RP1 and Autosomal Dominant Rod-cone Dystrophy: Novel Mutations, a Review of Published Variants, and Genotype-phenotype Correlation
  Human Mutation. Jan, 2012  |   Pubmed ID: 22052604
• Usher Syndrome Type 2 Caused by Activation of an USH2A Pseudoexon: Implications for Diagnosis and Therapy
  Human Mutation. Jan, 2012  |   Pubmed ID: 22009552
• Dantrolene for Severe Rhabdomyolysis in Staphylococcus Aureus Toxic Shock Syndrome
  European Journal of Anaesthesiology. Mar, 2012  |   Pubmed ID: 21968638
• Cataract As a Phenotypic Marker for a Mutation in WFS1, the Wolfram Syndrome Gene
  European Journal of Ophthalmology. Mar-Apr, 2012  |   Pubmed ID: 21623591
• Mutational Analysis of the RB1 Gene in Moroccan Patients with Retinoblastoma
  Molecular Vision. 2011  |   Pubmed ID: 22219649
• Combining Gene Mapping and Phenotype Assessment for Fast Mutation Finding in Non-consanguineous Autosomal Recessive Retinitis Pigmentosa Families
  European Journal of Human Genetics : EJHG. Dec, 2011  |   Pubmed ID: 21792230
• Genotype-phenotype Correlations of TGFBI P.Leu509Pro, P.Leu509Arg, P.Val613Gly, and the Allelic Association of P.Met502Val-p.Arg555Gln Mutations
  Molecular Vision. 2011  |   Pubmed ID: 21617751
• A Novel Locus (CORD12) for Autosomal Dominant Cone-rod Dystrophy on Chromosome 2q24.2-2q33.1
  BMC Medical Genetics. Apr, 2011  |   Pubmed ID: 21496248
• Four-year Follow-up of Diagnostic Service in USH1 Patients
  Investigative Ophthalmology & Visual Science. Jun, 2011  |   Pubmed ID: 21436283
• Systematic Screening of BEST1 and PRPH2 in Juvenile and Adult Vitelliform Macular Dystrophies: a Rationale for Molecular Analysis
  Ophthalmology. Jun, 2011  |   Pubmed ID: 21269699
• Clinical Utility Gene Card For: Blue Cone Monochromatism
  European Journal of Human Genetics : EJHG. Jun, 2011  |   Pubmed ID: 21267011
• Clinical Utility Gene Card For: Achromatopsia
  European Journal of Human Genetics : EJHG. Jun, 2011  |   Pubmed ID: 21267001
• Simple and Efficient: Validation of a Cotton Wick Electrode for Animal Electroretinography
  Ophthalmic Research. 2011  |   Pubmed ID: 21051915
• Molecular Diagnosis Reveals Genetic Heterogeneity for the Overlapping MKKS and BBS Phenotypes
  European Journal of Medical Genetics. Mar-Apr, 2011  |   Pubmed ID: 21044901
• OPA1 Links Human Mitochondrial Genome Maintenance to MtDNA Replication and Distribution
  Genome Research. Jan, 2011  |   Pubmed ID: 20974897
• Bardet-Biedl Syndrome: a Study of the Renal and Cardiovascular Phenotypes in a French Cohort
  Clinical Journal of the American Society of Nephrology : CJASN. Jan, 2011  |   Pubmed ID: 20876674
• Screening for a Canine Model of Choroideremia Exclusively Identifies Nonpathogenic CHM Variants
  Ophthalmic Research. 2011  |   Pubmed ID: 20861657
• Performance on a Virtual Reality Angled Laparoscope Task Correlates with Spatial Ability of Trainees
  The Indian Journal of Surgery. Aug, 2010  |   Pubmed ID: 21938197
• Screening Genes of the Visual Cycle RGR, RBP1 and RBP3 Identifies Rare Sequence Variations
  Ophthalmic Genetics. Dec, 2010  |   Pubmed ID: 21067480
• [From Yeast to Neurodegenerative Diseases: Ten Years of Exploration of Mitochondrial Dynamic Disorders]
  Medecine Sciences : M/S. Oct, 2010  |   Pubmed ID: 20929674
• Nasal Epithelial Cells Are a Reliable Source to Study Splicing Variants in Usher Syndrome
  Human Mutation. Jun, 2010  |   Pubmed ID: 20513143
• Dissecting the Pathogenic Mechanisms of Mutations in the Pore Region of the Human Cone Photoreceptor Cyclic Nucleotide-gated Channel
  Human Mutation. Jul, 2010  |   Pubmed ID: 20506298
• High Frequency of COH1 Intragenic Deletions and Duplications Detected by MLPA in Patients with Cohen Syndrome
  European Journal of Human Genetics : EJHG. Oct, 2010  |   Pubmed ID: 20461111
• Characterization of Ca2+ Signalling in Postnatal Mouse Retinal Ganglion Cells: Involvement of OPA1 in Ca2+ Clearance
  Ophthalmic Genetics. Jun, 2010  |   Pubmed ID: 20450306
• FATP1 Inhibits 11-cis Retinol Formation Via Interaction with the Visual Cycle Retinoid Isomerase RPE65 and Lecithin:retinol Acyltransferase
  The Journal of Biological Chemistry. Jun, 2010  |   Pubmed ID: 20356843
• Should Transcobalamin Deficiency Be Treated Aggressively?
  Journal of Inherited Metabolic Disease. Jun, 2010  |   Pubmed ID: 20352340
• Spectrum of Rhodopsin Mutations in French Autosomal Dominant Rod-cone Dystrophy Patients
  Investigative Ophthalmology & Visual Science. Jul, 2010  |   Pubmed ID: 20164459
• Electrophysiological Retinal Pigment Epithelium Changes Observed with Indocyanine Green, Trypan Blue and Triamcinolone
  Ophthalmic Research. 2010  |   Pubmed ID: 20130442
• [Fecal Incontinence]
  Therapeutische Umschau. Revue Therapeutique. Jan, 2010  |   Pubmed ID: 20052654
• TRPM1 is Mutated in Patients with Autosomal-recessive Complete Congenital Stationary Night Blindness
  American Journal of Human Genetics. Nov, 2009  |   Pubmed ID: 19896113
• Genotyping Microarray for CSNB-associated Genes
  Investigative Ophthalmology & Visual Science. Dec, 2009  |   Pubmed ID: 19578023
• OPA1 Functions in Mitochondria and Dysfunctions in Optic Nerve
  The International Journal of Biochemistry & Cell Biology. Oct, 2009  |   Pubmed ID: 19389483
• Molecular Screening of 980 Cases of Suspected Hereditary Optic Neuropathy with a Report on 77 Novel OPA1 Mutations
  Human Mutation. Jul, 2009  |   Pubmed ID: 19319978
• Ileal Intussusception Due to Visceral Malignant Melanoma Metastasis
  Surgery. Mar, 2009  |   Pubmed ID: 19231589
• Early Versus Delayed Cholecystectomy in Patients with Biliary Acute Pancreatitis
  Surgery. Mar, 2009  |   Pubmed ID: 19231577
• Mutations in CNNM4 Cause Recessive Cone-rod Dystrophy with Amelogenesis Imperfecta
  American Journal of Human Genetics. Feb, 2009  |   Pubmed ID: 19200527
• Extensive Macular Atrophy with Pseudodrusen-like Appearance: a New Clinical Entity
  American Journal of Ophthalmology. Apr, 2009  |   Pubmed ID: 19181301
• Influence of Thoracic Epidural Analgesia on Postoperative Pain Relief and Ileus After Laparoscopic Colorectal Resection : Benefit with Epidural Analgesia
  Surgical Endoscopy. Feb, 2009  |   Pubmed ID: 18363059
• The Future of Patient Safety: Surgical Trainees Accept Virtual Reality As a New Training Tool
  Patient Safety in Surgery. Jun, 2008  |   Pubmed ID: 18544173
• Novel KCNV2 Mutations in Cone Dystrophy with Supernormal Rod Electroretinogram
  American Journal of Ophthalmology. Jun, 2008  |   Pubmed ID: 18400204
• Reversible Optic Neuropathy with OPA1 Exon 5b Mutation
  Annals of Neurology. May, 2008  |   Pubmed ID: 18360822
• Multislice CT in Adult Colocolic Intussusception: Case Report and Review of the Literature
  Emergency Radiology. Sep, 2008  |   Pubmed ID: 18004598
• Mutations in TOPORS Cause Autosomal Dominant Retinitis Pigmentosa with Perivascular Retinal Pigment Epithelium Atrophy
  American Journal of Human Genetics. Nov, 2007  |   Pubmed ID: 17924349
• Assessment of Construct Validity of a Virtual Reality Laparoscopy Simulator
  Journal of Laparoendoscopic & Advanced Surgical Techniques. Part A. Aug, 2007  |   Pubmed ID: 17705717
• The Ocular Anomalies in a Cystinosis Animal Model Mimic Disease Pathogenesis
  Pediatric Research. Aug, 2007  |   Pubmed ID: 17597652
• RRH, Encoding the RPE-expressed Opsin-like Peropsin, is Not Mutated in Retinitis Pigmentosa and Allied Diseases
  Ophthalmic Genetics. Mar, 2007  |   Pubmed ID: 17454745
• Molecular and in Silico Analyses of the Full-length Isoform of Usherin Identify New Pathogenic Alleles in Usher Type II Patients
  Human Mutation. Aug, 2007  |   Pubmed ID: 17405132
• Cone Rod Dystrophies
  Orphanet Journal of Rare Diseases. Feb, 2007  |   Pubmed ID: 17270046
• Effects of OPA1 Mutations on Mitochondrial Morphology and Apoptosis: Relevance to ADOA Pathogenesis
  Journal of Cellular Physiology. May, 2007  |   Pubmed ID: 17167772
• Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-specific Branch of Chaperonin-related Proteins in Bardet-Biedl Syndrome
  American Journal of Human Genetics. Jan, 2007  |   Pubmed ID: 17160889
• Comprehensive Survey of Mutations in RP2 and RPGR in Patients Affected with Distinct Retinal Dystrophies: Genotype-phenotype Correlations and Impact on Genetic Counseling
  Human Mutation. Jan, 2007  |   Pubmed ID: 16969763
• Gene Therapeutic Prospects in Early Onset of Severe Retinal Dystrophy: Restoration of Vision in RPE65 Briard Dogs Using an AAV Serotype 4 Vector That Specifically Targets the Retinal Pigmented Epithelium
  Bulletin Et Memoires De L'Academie Royale De Medecine De Belgique. 2006  |   Pubmed ID: 17503728
• Homozygous Deletion Related to Alu Repeats in RLBP1 Causes Retinitis Punctata Albescens
  Investigative Ophthalmology & Visual Science. Nov, 2006  |   Pubmed ID: 17065479
• Retinitis Pigmentosa
  Orphanet Journal of Rare Diseases. Oct, 2006  |   Pubmed ID: 17032466
• Screening Genes of the Retinoid Metabolism: Novel LRAT Mutation in Leber Congenital Amaurosis
  American Journal of Ophthalmology. Oct, 2006  |   Pubmed ID: 17011878
• Glucagon-like Peptide-1 is Involved in Sodium and Water Homeostasis in Humans
  Digestion. 2006  |   Pubmed ID: 16809911
• Mitochondrial Dynamics and Disease, OPA1
  Biochimica Et Biophysica Acta. May-Jun, 2006  |   Pubmed ID: 16737747
• BBS10 Encodes a Vertebrate-specific Chaperonin-like Protein and is a Major BBS Locus
  Nature Genetics. May, 2006  |   Pubmed ID: 16582908
• Carbon Dye Staining of Sentinel Lymph Nodes Facilitates Microstaging of Colon Cancer Patients
  World Journal of Surgery. Mar, 2006  |   Pubmed ID: 16479343
• Expression of the Opa1 Mitochondrial Protein in Retinal Ganglion Cells: Its Downregulation Causes Aggregation of the Mitochondrial Network
  Investigative Ophthalmology & Visual Science. Nov, 2005  |   Pubmed ID: 16249510
• OPA1 R445H Mutation in Optic Atrophy Associated with Sensorineural Deafness
  Annals of Neurology. Dec, 2005  |   Pubmed ID: 16240368
• Novel Mutations in MYO7A and USH2A in Usher Syndrome
  Ophthalmic Genetics. Mar, 2005  |   Pubmed ID: 15823922
• Testing for Triallelism: Analysis of Six BBS Genes in a Bardet-Biedl Syndrome Family Cohort
  European Journal of Human Genetics : EJHG. May, 2005  |   Pubmed ID: 15770229
• Deafness and Cochlear Fibrocyte Alterations in Mice Deficient for the Inner Ear Protein Otospiralin
  Molecular and Cellular Biology. Jan, 2005  |   Pubmed ID: 15632083
• Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis
  American Journal of Human Genetics. Oct, 2004  |   Pubmed ID: 15322982
• Lack of Fundus Autofluorescence to 488 Nanometers from Childhood on in Patients with Early-onset Severe Retinal Dystrophy Associated with Mutations in RPE65
  Ophthalmology. Aug, 2004  |   Pubmed ID: 15288992
• Leber Congenital Amaurosis: Comprehensive Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition, and Genotype-phenotype Correlations As a Strategy for Molecular Diagnosis
  Human Mutation. Apr, 2004  |   Pubmed ID: 15024725
• Simplified Placement and Management of Cutting Setons in the Treatment of Transsphincteric Anal Fistula: Technical Note
  International Journal of Colorectal Disease. Jul, 2004  |   Pubmed ID: 14762677
• Fourteen Novel OPA1 Mutations in Autosomal Dominant Optic Atrophy Including Two De Novo Mutations in Sporadic Optic Atrophy
  Human Mutation. Jun, 2003  |   Pubmed ID: 14961560
• Phenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular Dystrophy
  The Journal of Investigative Dermatology. Nov, 2003  |   Pubmed ID: 14708629
• Identification of Sentinel Lymph Nodes in Colon Cancer Depends on the Amount of Dye Injected Relative to Tumor Size
  World Journal of Surgery. Dec, 2003  |   Pubmed ID: 14595521
• Gene Structure and Chromosomal Localization of Mouse Opa1 : Its Exclusion from the Bst Locus
  BMC Genetics. May, 2003  |   Pubmed ID: 12735796
• A Novel CACNA1F Mutation in a French Family with the Incomplete Type of X-linked Congenital Stationary Night Blindness
  American Journal of Ophthalmology. May, 2003  |   Pubmed ID: 12719097
• Gene Structure, Chromosomal Localization, and Mutation Screening of the Human Gene for the Inner Ear Protein Otospiralin
  Neurogenetics. Apr, 2003  |   Pubmed ID: 12687421
• Usher Syndrome Type I G (USH1G) is Caused by Mutations in the Gene Encoding SANS, a Protein That Associates with the USH1C Protein, Harmonin
  Human Molecular Genetics. Mar, 2003  |   Pubmed ID: 12588794
• Identification of Three Novel OA1 Gene Mutations Identified in Three Families Misdiagnosed with Congenital Nystagmus and Carrier Status Determination by Real-time Quantitative PCR Assay
  BMC Genetics. Jan, 2003  |   Pubmed ID: 12515581
• The ABCA4 Gene in Autosomal Recessive Cone-rod Dystrophies
  American Journal of Human Genetics. Dec, 2002  |   Pubmed ID: 12515255
• Identification of Preferentially Expressed MRNAs in Retina and Cochlea
  DNA and Cell Biology. Nov, 2002  |   Pubmed ID: 12489989
• Laparoscopically Assisted Hemicolectomy for Crohn's Disease: Are We Still Getting Better?
  The American Surgeon. Jan, 2002  |   Pubmed ID: 12467325
• What Similarity Between Human and Fission Yeast Proteins is Required for Orthology?
  Yeast (Chichester, England). Sep, 2002  |   Pubmed ID: 12237853
• The Human Dynamin-related Protein OPA1 is Anchored to the Mitochondrial Inner Membrane Facing the Inter-membrane Space
  FEBS Letters. Jul, 2002  |   Pubmed ID: 12123827
• Nonoperative Treatment of Splenic Rupture in Malaria Tropica: Review of Literature and Case Report
  Acta Tropica. Apr, 2002  |   Pubmed ID: 11904097
• Downregulation of Otospiralin, a Novel Inner Ear Protein, Causes Hair Cell Degeneration and Deafness
  The Journal of Neuroscience : the Official Journal of the Society for Neuroscience. Mar, 2002  |   Pubmed ID: 11880501
• OPA1 (Kjer Type) Dominant Optic Atrophy: a Novel Mitochondrial Disease
  Molecular Genetics and Metabolism. Feb, 2002  |   Pubmed ID: 11855928