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1 leles leads to XLRP resembling recessive rod-cone dystrophy.
2 different isoforms in 2 murine models of rod-cone dystrophy.
3 that mutations in RLBP1 may lead to FAP with cone dystrophy.
4 ients with RPA and in 1 patient with FAP and cone dystrophy.
5  and a phenotype of a slowly progressing rod/cone dystrophy.
6 GR mutations leading exclusively to X-linked cone dystrophy.
7 und to be associated with autosomal dominant cone dystrophy.
8 (GCAP1), in a family with autosomal dominant cone dystrophy.
9 ral areolar choroidal dystrophy and dominant cone dystrophy.
10 yndrome (CS) is a rare syndromic form of rod-cone dystrophy.
11 , fundus albipunctatus, and Newfoundland rod-cone dystrophy.
12 tis punctata albescens, and Newfoundland rod-cone dystrophy.
13 es revealing rod-mediated retinopathy or rod-cone dystrophy.
14 ed electroretinogram (ERG) evidence of a rod-cone dystrophy.
15 investigating patients with nonsyndromic rod-cone dystrophy.
16 and CRISPR-Cas9 to ablate rods and mimic rod-cone dystrophy.
17  CNGB3 are associated with achromatopsia and cone dystrophies.
18 pe may be a feature of Stargardt disease and cone dystrophies.
19  CNGB3 are associated with achromatopsia and cone dystrophies.
20 derstanding and treating chromophore-related cone dystrophies.
21 ed GCAP1 have been linked to the etiology of cone dystrophies.
22  important consequences for the treatment of cone dystrophies.
23 ne arrestin is a candidate gene for X-linked cone dystrophies.
24  editing, and cell replacement therapies for cone dystrophies.
25 e progression and therapeutic benefit in rod-cone dystrophies.
26 s with Stargardt disease (78.1 mum/year) and cone dystrophies (31.9 mum/year) compared with patients
27 ar dystrophy (20%), cone-rod dystrophy (9%), cone dystrophy (4%) and other phenotypes (7%).
28 types, 58.2% (51.6-64.6%; 41 studies) in rod-cone dystrophies, 57.7% (46.8-68.3%; eight studies) in m
29 al diagnosis of the individuals included rod-cone dystrophy (60%), macular dystrophy (20%), cone-rod
30 ss index 29.1) with a slowly progressive rod-cone dystrophy, a mild learning difficulty, high myopia,
31 istically displayed a slowly progressing rod-cone dystrophy accompanied by accumulation of N-retinyli
32  knockout (-/-) mice exhibited a progressive cone dystrophy accompanied by significant alterations in
33 ess worldwide, with retinitis pigmentosa and cone dystrophy affecting approximately 1 in 3500 and 1 i
34 ified in all four families, including two in cone dystrophy and RP genes in the same family (PDE6C; c
35 inal diseases such as Stargardt disease, rod-cone dystrophies, and age-related macular degeneration.
36 uman cone diseases, including achromatopsia, cone dystrophies, and early onset macular degeneration.
37 ith retinal dystrophy including maculopathy, cone dystrophy, and cone-rod dystrophy.
38 e associated with achromatopsia, progressive cone dystrophy, and early-onset macular degeneration.
39  such as Blue Cone Monochromacy and X-linked Cone Dystrophy are characterized by complete loss (of) o
40 Cone loss in patients with achromatopsia and cone dystrophy associated with CNG channel mutations has
41 type based on age at onset, imaging and ERG: cone dystrophy-bull's-eye maculopathy (CD-BEM, 40 eyes),
42                                              Cone dystrophy-bull's-eye maculopathy eyes typically had
43 the GC-E-deficient mouse defines a model for cone dystrophy, but it also demonstrates that morphologi
44  CERKL deficiency in zebrafish may cause rod-cone dystrophy, but not cone-rod dystrophy, while interf
45 on of 11-cis-RDHs causes a slowly developing cone dystrophy caused by inefficient cone pigment regene
46 the biosynthetic pathway and the etiology of cone dystrophy caused by PRPH2 mutations and/or malfunct
47 liary targeting of PRPH2 and the etiology of cone dystrophy caused by PRPH2 mutations remain elusive.
48  cone outer segment can be blocked by either cone dystrophy-causing C-terminal mutations of PRPH2, or
49                                            A cone dystrophy-causing mutation impairs the LE and cilia
50 e genetic causes of autosomal recessive (ar) cone dystrophy (CD) and cone-rod dystrophy (CRD) are cur
51                            Six patients with cone dystrophy (CD) and eight patients with retinitis pi
52 pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic varia
53 atients with achromatopsia (A), and six with cone dystrophy (CD) were obtained with frequency domain
54  are associated with autosomal dominant (AD) cone dystrophy (COD) and cone-rod dystrophy (CORD).
55 lized cone degenerations, including X-linked cone dystrophy (COD1).
56 channel deficiency, a model of achromatopsia/cone dystrophy, cones display early-onset ER stress-asso
57 ions in CA4 linked to autosomal dominant rod-cone dystrophy disrupt NBC1-mediated HCO3- transport.
58                                   In the rod-cone dystrophy dog model of blindness, LiGluR-MAG0(460)
59 amental to developing targeted therapies for cone dystrophy/dysfunction.
60 tly found to be linked to autosomal dominant cone dystrophy in a British family.
61  Nrl(-/-) background exacerbates age-related cone dystrophy in a light-independent manner, mediated p
62 otential approach to slow the progression of cone dystrophy in affected humans.
63 Cys, a mutation linked to autosomal dominant cone dystrophy in humans, Cys99 is unable to stabilize t
64 ssociated with achromatopsia and progressive cone dystrophy in humans.
65                 Full-field ERGs revealed rod-cone dystrophy in the vast majority, but with generalize
66                                  All had rod-cone dystrophy (International Society for Clinical Elect
67  RGPR dystrophies and may even convert a rod-cone dystrophy into a cone dystrophy phenotype.
68 generation, Stargardt disease, and recessive cone dystrophies is a major cause of blindness.
69                                     X-linked cone dystrophy is a genetically heterogeneous disorder,
70                                     X-linked cone dystrophy is a type of hereditary retinal degenerat
71 pigmentosa (RP), the most common form of rod-cone dystrophy, is caused by greater than 3100 mutations
72  a disorder that we termed "Newfoundland rod-cone dystrophy" (NFRCD).
73        Patients also may exhibit an isolated cone dystrophy on ERG examination.
74 achromatopsia, occult macular dystrophy, and cone dystrophies (P < .003).
75                            Ten patients with cone dystrophy participated.
76 tion, including the first reported case of a cone dystrophy phenotype associated with the disorder.
77 7 patients had proven BBS mutations; 1 had a cone dystrophy phenotype on ERG and 6 had a cone-rod pat
78 ologic testing in 6 patients confirmed a rod-cone dystrophy phenotype.
79 rited RP presenting in adult life with a rod-cone dystrophy phenotype.
80 may even convert a rod-cone dystrophy into a cone dystrophy phenotype.
81  mechanism underlying the autosomal dominant cone dystrophies produced by GCAP1 mutations.
82 riants were identified in a patient with rod-cone dystrophy: R722X in exon 16 and R865W in exon 19 on
83                                          Rod-cone dystrophy (RCD), also known as retinitis pigmentosa
84 y979Asp) was found to be associated with rod-cone dystrophy (RCD).
85 tional loss in a cohort of patients with rod-cone dystrophy (RCD); (2) flood-illumination adaptive op
86                                Patients with cone dystrophy show different patterns of psychophysical
87 -/-) mice exhibited a slowly progressing rod-cone dystrophy simulating the human disease.
88         We mapped two families with X-linked cone dystrophy to the COD1 locus and identified two dist
89 l peripheral retinal vasculogenesis, and rod-cone dystrophy were investigated.
90 henotypes rather than the typical severe rod-cone dystrophy with MA.
91 ave been proposed as the molecular basis for cone dystrophy with supernormal rod electroretinogram.
92 Mutations in Kv8.2 result in childhood-onset cone dystrophy with supernormal rod response (CDSRR).
93 20-40) years, and 6 had an earlier onset rod-cone dystrophy, with a mean (range) age at onset of 12.1
94 patients, 4 had a progressive late-onset rod-cone dystrophy, with a mean (range) age at onset of 29.7
95 ssociated with achromatopsia and progressive cone dystrophy, with mutations in CNGB3 alone accounting
96  ranging from color blindness to progressive cone dystrophy (XLCOD5).