Kategorie:
PubID
Gen
MIM
12515255 The ABCA4 gene in autosomal recessive cone-rod dystrophies.
ABCA4
23105016 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
ACBD5
19409519 Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.
ADAM9
24664679 AIPL1 protein and its indispensable role in cone photoreceptor function and survival.
AIPL1
18849347 BEST1 expression in the retinal pigment epithelium is modulated by OTX family members.
BEST1
23289492 Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration).
C1QTNF5
23788369 Clinical characteristics of rod and cone photoreceptor dystrophies in patients with mutations in the C8orf37 gene.
C8orf37
19074807 A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
CABP4
16505158 X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.
CACNA1F
16877424 Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.
CACNA2D4
17270046 Cone rod dystrophies.
CDH3
24265541 Clinical characteristics of early retinal disease due to CDHR1 mutation.
CDHR1
19578027 CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.
CERKL
23105016 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
CFAP410
24903488 Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.
CNGA3
15161866 Progressive cone dystrophy associated with mutation in CNGB3.
CNGB3
19200527 Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
CNNM4
11971869 Functional analysis of cone-rod homeobox (CRX) mutations associated with retinal dystrophy.
CRX
25983245 Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
DRAM2
17003453 Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration.
ELOVL4
15269314 Missense variations in the fibulin 5 gene and age-related macular degeneration.
FBLN5
11146732 Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1.
GUCA1A
16186331 A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies.
GUCA1B
18487367 Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.
GUCY2D
14570714 Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.
HMCN1
24026677 The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.
ITM2B
18235024 Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
KCNV2
20300561 Novel mutations in MERTK associated with childhood onset rod-cone dystrophy.
MERTK
25227500 Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
MFSD8
MT-ATP6
MT-TL1
24387991 Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy.
PCYT1A
19615668 Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
PDE6C
20590364 PITPNM3 is an uncommon cause of cone and cone-rod dystrophies.
PITPNM3
25344692 Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy.
PLK4
25018096 Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
POC1B
23639443 Prdm13 mediates the balance of inhibitory and excitatory neurons in somatosensory circuits.
PRDM13
24547909 Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations.
PROM1
26796962 In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.
PRPH2
23746546 Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
RAB28
25789692 Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation.
RAX2
15790919 Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study.
RDH5
14702087 Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
RGS9
26957898 Next-generation sequencing-based comprehensive molecular analysis of 43 Japanese patients with cone and cone-rod dystrophies.
RGS9BP
17962389 Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.
RIMS1
20826268 Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
RP1L1
11857109 X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.
RPGR
12920076 Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy.
RPGRIP1
16199541 Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.
SEMA4A
15016762 A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration).
TEAD1
11879143 Novel mutation in the TIMP3 gene causes Sorsby fundus dystrophy.
TIMP3
24791901 Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
TTLL5
25817018 Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
TUBGCP4
22279524 Genetic mapping and exome sequencing identify variants associated with five novel diseases.
TUBGCP6
11006213 HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model.
UNC119
17251492 Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development.
WASF3