Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
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Cone rod dystrophiesInteraction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.Retinal dystrophies, genomic applications in diagnosis and prospects for therapyThe role of primary cilia in the development and disease of the retinaRPGRIP1 and cone-rod dystrophy in dogsExome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genesGenetic and phenotypic variations of inherited retinal diseases in dogs: the power of within- and across-breed studiesMutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophyMutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvementGenetic variations strongly influence phenotypic outcome in the mouse retina.Successful gene therapy in the RPGRIP1-deficient dog: a large model of cone-rod dystrophy.A study of candidate genes for day blindness in the standard wire haired dachshundTargeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patientsAllelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.The genetics of eye disorders in the dogMultiple mechanisms contribute to leakiness of a frameshift mutation in canine cone-rod dystrophy.Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.Mutational screening of LCA genes emphasizing RPE65 in South Indian cohort of patients.Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue.Leber congenital amaurosis caused by mutations in RPGRIP1.A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.DNA testing and domestic dogsLeber congenital amaurosis: a genetic paradigm.Assessment of hereditary retinal degeneration in the English springer spaniel dog and disease relationship to an RPGRIP1 mutation.Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis.RPGR: Its role in photoreceptor physiology, human disease, and future therapies.Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neuronsExclusion of RPGRIP1 ins44 from primary causal association with early-onset cone-rod dystrophy in dogs.Insights into X-linked retinitis pigmentosa type 3, allied diseases and underlying pathomechanismsHomozygous missense variant in the human CNGA3 channel causes cone-rod dystrophyRPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.A novel splice site mutation of CDHR1 in a consanguineous Israeli Christian Arab family segregating autosomal recessive cone-rod dystrophy.The retinal ciliopathies.Molecular architecture of the centriole proteome: the conserved WD40 domain protein POC1 is required for centriole duplication and length control.Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.Clinical characteristics of early retinal disease due to CDHR1 mutation.Phenotypic variation and genotype-phenotype discordance in canine cone-rod dystrophy with an RPGRIP1 mutation.The molecular basis of retinal dystrophies in pakistan.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Aberrant protein trafficking in retinal degenerations: The initial phase of retinal remodeling.
P2860
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P2860
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
description
2003 nî lūn-bûn
@nan
2003 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
@ast
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
@en
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
@nl
type
label
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
@ast
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
@en
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
@nl
prefLabel
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
@ast
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
@en
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
@nl
P2093
P356
P1476
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy
@en
P2093
P356
10.1136/JMG.40.8.616
P407
P577
2003-08-01T00:00:00Z