Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.
about
X-linked cone dystrophy caused by mutation of the red and green cone opsinsNMNAT1 mutations cause Leber congenital amaurosisGene therapy rescues cone function in congenital achromatopsia.Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfectaAAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsiaSuccessful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.Conformational changes in guanylate cyclase-activating protein 1 induced by Ca2+ and N-terminal fatty acid acylation.Utilizing Zebrafish Visual Behaviors in Drug Screening for Retinal DegenerationDominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene.Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.Mutations in PCDH21 cause autosomal recessive cone-rod dystrophy.Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.Noninvasive imaging of the human rod photoreceptor mosaic using a confocal adaptive optics scanning ophthalmoscope.Integrity of the cone photoreceptor mosaic in oligocone trichromacy.Clinical course of cone dystrophy caused by mutations in the RPGR genePhotoreceptor structure and function in patients with congenital achromatopsia.Outcome measure for the treatment of cone photoreceptor diseases: orientation to a scene with cone-only contrastHigh Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation.ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathyHomozygous missense variant in the human CNGA3 channel causes cone-rod dystrophyNovel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy.Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.A novel locus for autosomal dominant cone-rod dystrophy maps to chromosome 10q.Membrane transporter proteins: a challenge for CNS drug development.Age-related cone abnormalities in zebrafish with genetic lesions in sonic hedgehog.Postnatal onset of retinal degeneration by loss of embryonic Ezh2 repression of Six1Clinical characteristics of early retinal disease due to CDHR1 mutation.Paradigm Shifts in Ophthalmic Diagnostics.Do you know the sex of your cells?A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.Effect of Illumination on Ocular Status Modifications Induced by Short-Term 3D TV Viewing.Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.The function of dog models in developing gene therapy strategies for human health.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Gene therapy for retinal diseaseThe value of clinical electrophysiology in the assessment of the eye and visual system in the era of advanced imaging.Juvenile-onset macular degeneration and allied disorders
P2860
Q24336274-BC873FCA-10A3-4D88-AA0B-1190BC683096Q24594444-C650087F-93A4-4A1B-B578-9ABE34D9AAE9Q24595787-407E7F47-6B24-45A2-BF87-6ABEB33B02F6Q24644245-BBB30311-4665-4038-8ABC-E0978CDC1EACQ28730645-81345AF2-AC5D-428C-B7C2-AAE40E2CEC00Q30571313-D9AB0211-78C1-416E-BE2A-315B5B8403DAQ33657140-F80BE23B-BD18-45D5-AB0F-3DEFFDA41088Q33838630-5839D994-D96A-410A-96B0-862E869595A5Q33862495-014F15D2-F343-4FA5-AB49-67C022749B5CQ34018557-689093C6-031C-4D00-A8D8-1C511A9BED85Q34135469-8043D9EA-00B1-4712-9608-94CD1214E85AQ34289655-804F0581-C810-49BD-89EC-FD663194C6C7Q34976923-3853569C-2D1F-4BBC-B589-C6AFCD768B29Q35016967-AB57ADF2-259C-4DF7-88C8-8D6C62E3F507Q35088925-2A1E2AC1-9701-4FCB-A51B-5CEECDD0BD23Q35221011-B4A8B73A-FA61-4DCC-992B-20E2361BC39FQ35226344-E07FBD4B-2DCD-4C51-BA46-9B958A43E3CBQ35247580-8D661C79-CBE9-4783-8D1E-4E305D6749D5Q35740318-FADA8286-213A-4DFE-B8FA-9DE7A9010FCBQ35864599-B58C0F87-6FAB-4514-9016-A8BA016D56EFQ36049811-EDF82587-30EA-4743-A675-C5B08A7C4C27Q36172365-8AC4D86C-12DF-4523-99B9-5FA89BC9434CQ36338204-716EC191-5C7F-43C7-A9C9-02EE43446D8BQ36596454-D989A8BA-97FA-44CA-8A1C-D5F7916DDEDCQ36610146-D72942A8-2B48-4F52-8E64-8A1822084C65Q36611962-1A8F73C2-1749-4DC1-95F6-0B6ED7CDC468Q36659167-3AD6F5CD-AEC1-41AA-9992-E5C1B019968BQ36976452-213385A2-BD95-4B82-9C16-AAFAED61DA72Q37290668-B2D9C76F-3AA3-4908-9AFF-400AF4584792Q37326936-7F76ADF0-C110-4A50-9A15-8EC2964C81C5Q37480451-147D4BA3-DEF4-475A-9687-CA401E66C722Q37575237-D9371E17-1963-4E74-8E21-02BAFED35B35Q37697904-18807A0C-7D5B-496A-8F00-0BE3B25A714DQ37699926-0F7F96D3-597D-4D0A-AC91-47E67A30C8C6Q37712014-4CEAFEB7-5DE4-4747-A259-83F635A6A259Q37898045-7E44A61E-A208-4235-BDCB-52D57650D863Q38030482-8F6DD762-BD0A-4EAE-990E-14203BD75B4AQ38073020-536B4601-DC12-4BB3-A7E4-A01246584009Q38122445-88A50CE0-4918-4A8E-BC74-0A06D8F9CE57Q38204635-B7DA4173-BAC0-40AD-8A47-10CB531AE953
P2860
Progressive cone and cone-rod dystrophies: phenotypes and underlying molecular genetic basis.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年学术文章
@wuu
2006年学术文章
@zh-cn
2006年学术文章
@zh-hans
2006年学术文章
@zh-my
2006年学术文章
@zh-sg
2006年學術文章
@yue
2006年學術文章
@zh
2006年學術文章
@zh-hant
name
Progressive cone and cone-rod ...... lying molecular genetic basis.
@ast
Progressive cone and cone-rod ...... lying molecular genetic basis.
@en
type
label
Progressive cone and cone-rod ...... lying molecular genetic basis.
@ast
Progressive cone and cone-rod ...... lying molecular genetic basis.
@en
prefLabel
Progressive cone and cone-rod ...... lying molecular genetic basis.
@ast
Progressive cone and cone-rod ...... lying molecular genetic basis.
@en
P1476
Progressive cone and cone-rod ...... rlying molecular genetic basis
@en
P2093
Anthony T Moore
Michel Michaelides
P304
P356
10.1016/J.SURVOPHTHAL.2006.02.007
P577
2006-05-01T00:00:00Z