Christian Hamel

OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.

Downregulation of otospiralin, a novel inner ear protein, causes hair cell degeneration and deafness.

Nonoperative treatment of splenic rupture in malaria tropica: review of literature and case report.

The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space.

What similarity between human and fission yeast proteins is required for orthology?

Laparoscopically assisted hemicolectomy for Crohn's disease: are we still getting better?

Identification of preferentially expressed mRNAs in retina and cochlea.

The ABCA4 gene in autosomal recessive cone-rod dystrophies.

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.

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin.

A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.

Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.

Identification of sentinel lymph nodes in colon cancer depends on the amount of dye injected relative to tumor size.

Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.

Simplified placement and management of cutting setons in the treatment of transsphincteric anal fistula: technical note.

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy.

Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.

Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65.

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

Deafness and cochlear fibrocyte alterations in mice deficient for the inner ear protein otospiralin.

Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

Novel mutations in MYO7A and USH2A in Usher syndrome.

OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.

Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network.

Carbon dye staining of sentinel lymph nodes facilitates microstaging of colon cancer patients.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

Mitochondrial dynamics and disease, OPA1.

Glucagon-like peptide-1 is involved in sodium and water homeostasis in humans.

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.

Retinitis pigmentosa.

Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.

Cone rod dystrophies.

Molecular and in silico analyses of the full-length isoform of usherin identify new pathogenic alleles in Usher type II patients.

RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases.

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.

The ocular anomalies in a cystinosis animal model mimic disease pathogenesis.

Assessment of construct validity of a virtual reality laparoscopy simulator.

Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.

Multislice CT in adult colocolic intussusception: case report and review of the literature.

Reversible optic neuropathy with OPA1 exon 5b mutation.

Influence of thoracic epidural analgesia on postoperative pain relief and ileus after laparoscopic colorectal resection : Benefit with epidural analgesia.

Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.

The future of patient safety: Surgical trainees accept virtual reality as a new training tool.

Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity.

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

Early versus delayed cholecystectomy in patients with biliary acute pancreatitis.

Ileal intussusception due to visceral malignant melanoma metastasis.

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

OPA1 functions in mitochondria and dysfunctions in optic nerve.

Genotyping microarray for CSNB-associated genes.

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

[Fecal incontinence].

Electrophysiological retinal pigment epithelium changes observed with indocyanine green, trypan blue and triamcinolone.

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.

Should transcobalamin deficiency be treated aggressively?

FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferase.

Characterization of Ca2+ signalling in postnatal mouse retinal ganglion cells: involvement of OPA1 in Ca2+ clearance.

High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel.

Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.

Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants.

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

[From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders].

OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

Simple and efficient: validation of a cotton wick electrode for animal electroretinography.

Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.

Clinical utility gene card for: achromatopsia.

Clinical utility gene card for: blue cone monochromatism.

Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.

Four-year follow-up of diagnostic service in USH1 patients.

A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.

Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.

Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families.

Performance on a virtual reality angled laparoscope task correlates with spatial ability of trainees.

Dantrolene for severe rhabdomyolysis in Staphylococcus aureus toxic shock syndrome.

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

Non-USH2A mutations in USH2 patients.

Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.

Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Dominant optic atrophy.

Characterization of pupil responses to blue and red light stimuli in autosomal dominant retinitis pigmentosa due to NR2E3 mutation.

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

Fatp1 deficiency affects retinal light response and dark adaptation, and induces age-related alterations.

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

Sensorineural hearing loss in OPA1-linked disorders.

Clinical utility gene card for: Achromatopsia - update 2013.

Choroideremia: towards a therapy.

Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.

Mutations in IMPG1 cause vitelliform macular dystrophies.

[Inherited retinal dystrophies: contributions of molecular genetics].

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Long-term follow-up of a randomized controlled trial of Lichtenstein's operation versus mesh plug repair for inguinal hernia.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.

Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.

Gene discovery and prevalence in inherited retinal dystrophies.

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma.

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.

Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.

Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.

Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.

How can we prevent myopia progression?

Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Proof of concept for AAV2/5-mediated gene therapy in iPSC-derived retinal pigment epithelium of a choroideremia patient.

[Genetic ocular diseases].

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.

A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.

Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.

A dominant mutation in MAPKAPK3, an actor of p38 signaling pathway, causes a new retinal dystrophy involving Bruch's membrane and retinal pigment epithelium.

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Pattern dystrophy in a female carrier of RP2 mutation.

Clinical Evaluation and Cone Alterations in Choroideremia.

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.

Phloroglucinol protects retinal pigment epithelium and photoreceptor against all-trans-retinal-induced toxicity and inhibits A2E formation.

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.

LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.

Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.

Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy.

Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism.

WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.

Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.

Adaptive optics: a tool for screening hydroxychloroquine-induced maculopathy?

Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.

The Clinical Phenotype of CNGA3-Related Achromatopsia: Pretreatment Characterization in Preparation of a Gene Replacement Therapy Trial.

LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.

Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.

Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.

Fatty acid transport protein 1 regulates retinoid metabolism and photoreceptor development in mouse retina.

Spatially Resolved Spectral Sensitivities as a Potential Read-out Parameter in Clinical Gene Therapeutic Trials.