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OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.
Molecular genetics and metabolism Feb, 2002 | Pubmed ID: 11855928
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
Nonoperative treatment of splenic rupture in malaria tropica: review of literature and case report.
Acta tropica Apr, 2002 | Pubmed ID: 11904097
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
What similarity between human and fission yeast proteins is required for orthology?
Yeast (Chichester, England) Sep, 2002 | Pubmed ID: 12237853
Laparoscopically assisted hemicolectomy for Crohn's disease: are we still getting better?
The American surgeon Jan, 2002 | Pubmed ID: 12467325
Identification of preferentially expressed mRNAs in retina and cochlea.
DNA and cell biology Nov, 2002 | Pubmed ID: 12489989
The ABCA4 gene in autosomal recessive cone-rod dystrophies.
American journal of human genetics Dec, 2002 | Pubmed ID: 12515255
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
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
Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin.
Neurogenetics Apr, 2003 | Pubmed ID: 12687421
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 and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus.
BMC genetics May, 2003 | Pubmed ID: 12735796
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
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy.
The Journal of investigative dermatology Nov, 2003 | Pubmed ID: 14708629
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
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
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
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
American journal of human genetics Oct, 2004 | Pubmed ID: 15322982
Deafness and cochlear fibrocyte alterations in mice deficient for the inner ear protein otospiralin.
Molecular and cellular biology Jan, 2005 | Pubmed ID: 15632083
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
Novel mutations in MYO7A and USH2A in Usher syndrome.
Ophthalmic genetics Mar, 2005 | Pubmed ID: 15823922
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness.
Annals of neurology Dec, 2005 | Pubmed ID: 16240368
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
Carbon dye staining of sentinel lymph nodes facilitates microstaging of colon cancer patients.
World journal of surgery Mar, 2006 | Pubmed ID: 16479343
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Nature genetics May, 2006 | Pubmed ID: 16582908
Mitochondrial dynamics and disease, OPA1.
Biochimica et biophysica acta May-Jun, 2006 | Pubmed ID: 16737747
Glucagon-like peptide-1 is involved in sodium and water homeostasis in humans.
Digestion , 2006 | Pubmed ID: 16809911
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
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.
American journal of ophthalmology Oct, 2006 | Pubmed ID: 17011878
Retinitis pigmentosa.
Orphanet journal of rare diseases Oct, 2006 | Pubmed ID: 17032466
Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens.
Investigative ophthalmology & visual science Nov, 2006 | Pubmed ID: 17065479
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
Effects of OPA1 mutations on mitochondrial morphology and apoptosis: relevance to ADOA pathogenesis.
Journal of cellular physiology May, 2007 | Pubmed ID: 17167772
Cone rod dystrophies.
Orphanet journal of rare diseases Feb, 2007 | Pubmed ID: 17270046
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
RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases.
Ophthalmic genetics Mar, 2007 | Pubmed ID: 17454745
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
The ocular anomalies in a cystinosis animal model mimic disease pathogenesis.
Pediatric research Aug, 2007 | Pubmed ID: 17597652
Assessment of construct validity of a virtual reality laparoscopy simulator.
Journal of laparoendoscopic & advanced surgical techniques. Part A Aug, 2007 | Pubmed ID: 17705717
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy.
American journal of human genetics Nov, 2007 | Pubmed ID: 17924349
Multislice CT in adult colocolic intussusception: case report and review of the literature.
Emergency radiology Sep, 2008 | Pubmed ID: 18004598
Reversible optic neuropathy with OPA1 exon 5b mutation.
Annals of neurology May, 2008 | Pubmed ID: 18360822
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
Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram.
American journal of ophthalmology Jun, 2008 | Pubmed ID: 18400204
The future of patient safety: Surgical trainees accept virtual reality as a new training tool.
Patient safety in surgery Jun, 2008 | Pubmed ID: 18544173
Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity.
American journal of ophthalmology Apr, 2009 | Pubmed ID: 19181301
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
American journal of human genetics Feb, 2009 | Pubmed ID: 19200527
Early versus delayed cholecystectomy in patients with biliary acute pancreatitis.
Surgery Mar, 2009 | Pubmed ID: 19231577
Ileal intussusception due to visceral malignant melanoma metastasis.
Surgery Mar, 2009 | Pubmed ID: 19231589
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
OPA1 functions in mitochondria and dysfunctions in optic nerve.
The international journal of biochemistry & cell biology Oct, 2009 | Pubmed ID: 19389483
Genotyping microarray for CSNB-associated genes.
Investigative ophthalmology & visual science Dec, 2009 | Pubmed ID: 19578023
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
American journal of human genetics Nov, 2009 | Pubmed ID: 19896113
[Fecal incontinence].
Therapeutische Umschau. Revue therapeutique Jan, 2010 | Pubmed ID: 20052654
Electrophysiological retinal pigment epithelium changes observed with indocyanine green, trypan blue and triamcinolone.
Ophthalmic research , 2010 | Pubmed ID: 20130442
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.
Investigative ophthalmology & visual science Jul, 2010 | Pubmed ID: 20164459
Should transcobalamin deficiency be treated aggressively?
Journal of inherited metabolic disease Jun, 2010 | Pubmed ID: 20352340
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
Characterization of Ca2+ signalling in postnatal mouse retinal ganglion cells: involvement of OPA1 in Ca2+ clearance.
Ophthalmic genetics Jun, 2010 | Pubmed ID: 20450306
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
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
Nasal epithelial cells are a reliable source to study splicing variants in Usher syndrome.
Human mutation Jun, 2010 | Pubmed ID: 20513143
Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants.
Ophthalmic research , 2011 | Pubmed ID: 20861657
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
[From yeast to neurodegenerative diseases: ten years of exploration of mitochondrial dynamic disorders].
Medecine sciences : M/S Oct, 2010 | Pubmed ID: 20929674
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution.
Genome research Jan, 2011 | Pubmed ID: 20974897
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
European journal of medical genetics Mar-Apr, 2011 | Pubmed ID: 21044901
Simple and efficient: validation of a cotton wick electrode for animal electroretinography.
Ophthalmic research , 2011 | Pubmed ID: 21051915
Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variations.
Ophthalmic genetics Dec, 2010 | Pubmed ID: 21067480
Clinical utility gene card for: achromatopsia.
European journal of human genetics : EJHG Jun, 2011 | Pubmed ID: 21267001
Clinical utility gene card for: blue cone monochromatism.
European journal of human genetics : EJHG Jun, 2011 | Pubmed ID: 21267011
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis.
Ophthalmology Jun, 2011 | Pubmed ID: 21269699
Four-year follow-up of diagnostic service in USH1 patients.
Investigative ophthalmology & visual science Jun, 2011 | Pubmed ID: 21436283
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1.
BMC medical genetics Apr, 2011 | Pubmed ID: 21496248
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
Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene.
European journal of ophthalmology Mar-Apr, 2012 | Pubmed ID: 21623591
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
Performance on a virtual reality angled laparoscope task correlates with spatial ability of trainees.
The Indian journal of surgery Aug, 2010 | Pubmed ID: 21938197
Dantrolene for severe rhabdomyolysis in Staphylococcus aureus toxic shock syndrome.
European journal of anaesthesiology Mar, 2012 | Pubmed ID: 21968638
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy.
Human mutation Jan, 2012 | Pubmed ID: 22009552
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
Non-USH2A mutations in USH2 patients.
Human mutation Mar, 2012 | Pubmed ID: 22147658
Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa.
European journal of ophthalmology Jul-Aug, 2012 | Pubmed ID: 22180149
Mutational analysis of the RB1 gene in Moroccan patients with retinoblastoma.
Molecular vision , 2011 | Pubmed ID: 22219649
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
Dominant optic atrophy.
Orphanet journal of rare diseases Jul, 2012 | Pubmed ID: 22776096
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
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy.
Nature genetics Sep, 2012 | Pubmed ID: 22842229
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
Fatp1 deficiency affects retinal light response and dark adaptation, and induces age-related alterations.
PloS one , 2012 | Pubmed ID: 23166839
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
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.
Ophthalmic epidemiology , 2013 | Pubmed ID: 23350551
Sensorineural hearing loss in OPA1-linked disorders.
Brain : a journal of neurology Jul, 2013 | Pubmed ID: 23384603
Clinical utility gene card for: Achromatopsia - update 2013.
European journal of human genetics : EJHG Nov, 2013 | Pubmed ID: 23486539
Choroideremia: towards a therapy.
American journal of ophthalmology Sep, 2013 | Pubmed ID: 23810476
Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1.
JAMA ophthalmology Oct, 2013 | Pubmed ID: 23929416
Mutations in IMPG1 cause vitelliform macular dystrophies.
American journal of human genetics Sep, 2013 | Pubmed ID: 23993198
[Inherited retinal dystrophies: contributions of molecular genetics].
Biologie aujourd'hui , 2013 | Pubmed ID: 24103338
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Human molecular genetics Mar, 2014 | Pubmed ID: 24163243
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
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
Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations.
Molecular vision , 2013 | Pubmed ID: 24339724
Gene discovery and prevalence in inherited retinal dystrophies.
Comptes rendus biologies Mar, 2014 | Pubmed ID: 24702842
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
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
Impairment of visual function and retinal ER stress activation in Wfs1-deficient mice.
PloS one , 2014 | Pubmed ID: 24823368
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.
Human mutation Oct, 2014 | Pubmed ID: 24944099
Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.
Molecular vision , 2014 | Pubmed ID: 24959063
Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.
Ophthalmology Dec, 2014 | Pubmed ID: 25085631
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
Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.
Molecular genetics & genomic medicine Jan, 2015 | Pubmed ID: 25629076
Neuroradiological findings expand the phenotype of OPA1-related mitochondrial dysfunction.
Journal of the neurological sciences Feb, 2015 | Pubmed ID: 25641387
How can we prevent myopia progression?
European journal of ophthalmology Jul-Aug, 2015 | Pubmed ID: 25655598
Autosomal recessive retinitis pigmentosa with RP1 mutations is associated with myopia.
The British journal of ophthalmology Oct, 2015 | Pubmed ID: 25883087
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
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
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
[Genetic ocular diseases].
La Revue du praticien Apr, 2015 | Pubmed ID: 26058181
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
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Neurobiology of disease Jun, 2016 | Pubmed ID: 26311407
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
Frontiers in genetics , 2015 | Pubmed ID: 26539208
Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies.
American journal of human genetics Nov, 2015 | Pubmed ID: 26593267
Whole USH2A Gene Sequencing Identifies Several New Deep Intronic Mutations.
Human mutation Feb, 2016 | Pubmed ID: 26629787
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
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
PloS one , 2016 | Pubmed ID: 26766544
Pattern dystrophy in a female carrier of RP2 mutation.
Ophthalmic genetics 12, 2016 | Pubmed ID: 26885761
Clinical Evaluation and Cone Alterations in Choroideremia.
Ophthalmology Aug, 2016 | Pubmed ID: 26992839
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
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
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.
American journal of medical genetics. Part A Jul, 2016 | Pubmed ID: 27103084
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.
Retinal cases & brief reports Summer, 2017 | Pubmed ID: 27203561
Increased steroidogenesis promotes early-onset and severe vision loss in females with OPA1 dominant optic atrophy.
Human molecular genetics Jun, 2016 | Pubmed ID: 27260406
Clinical Characteristics and Risk Factors of Extensive Macular Atrophy with Pseudodrusen: The EMAP Case-Control National Clinical Trial.
Ophthalmology Sep, 2016 | Pubmed ID: 27320518
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
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
WFS1 in Optic Neuropathies: Mutation Findings in Nonsyndromic Optic Atrophy and Assessment of Clinical Severity.
Ophthalmology Sep, 2016 | Pubmed ID: 27395765
Martinique Crinkled Retinal Pigment Epitheliopathy: Clinical Stages and Pathophysiologic Insights.
Ophthalmology Oct, 2016 | Pubmed ID: 27474146
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
A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.
Scientific reports Sep, 2016 | Pubmed ID: 27601084
Adaptive optics: a tool for screening hydroxychloroquine-induced maculopathy?
Acta ophthalmologica Aug, 2017 | Pubmed ID: 27805308
Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.
Investigative ophthalmology & visual science Feb, 2017 | Pubmed ID: 28159969
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
LRIT3 Differentially Affects Connectivity and Synaptic Transmission of Cones to ON- and OFF-Bipolar Cells.
Investigative ophthalmology & visual science Mar, 2017 | Pubmed ID: 28334377
Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.
Molecular vision , 2017 | Pubmed ID: 28356705
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Human molecular genetics Jan, 2017 | Pubmed ID: 28365780
Cone dystrophy or macular dystrophy associated with novel autosomal dominant GUCA1A mutations.
Molecular vision , 2017 | Pubmed ID: 28442884
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
Fatty acid transport protein 1 regulates retinoid metabolism and photoreceptor development in mouse retina.
PloS one , 2017 | Pubmed ID: 28672005
Spatially Resolved Spectral Sensitivities as a Potential Read-out Parameter in Clinical Gene Therapeutic Trials.
Ophthalmic research Jul, 2017 | Pubmed ID: 28697496
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