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1 LCA), juvenile retinitis pigmentosa (RP) and cone-rod dystrophy.
2 d bilateral microcornea, ectopic pupils, and cone-rod dystrophy.
3 rocornea, ectopia lentis, and early onset of cone-rod dystrophy.
4 ng ADAMTS18 in patients with microcornea and cone-rod dystrophy.
5 ntis, rhegmatogenous retinal detachment, and cone-rod dystrophy.
6 in all patients except patient 1, who showed cone-rod dystrophy.
7 esentation is that of an autosomal recessive cone-rod dystrophy.
8 s juvenile retinitis pigmentosa and dominant cone-rod dystrophy.
9 toreceptor cells in the retina, resulting in cone-rod dystrophy.
10 genital amaurosis, retinitis pigmentosa, and cone-rod dystrophy.
11 , we produced transgenic mice and observed a cone-rod dystrophy.
12 found in a 57-year-old woman with late-onset cone-rod dystrophy.
13 tGC-1 have been linked to autosomal dominant cone-rod dystrophy.
14 R838C) in three other families with dominant cone-rod dystrophy.
15 RDS gene, which is associated with dominant cone-rod dystrophy.
16 sis on a four generation British family with cone-rod dystrophy.
19 RX are associated with the retinal diseases, cone-rod dystrophy-2 (adCRD2; refs 3, 4, 5), retinitis p
20 rx are associated with the retinal diseases, cone-rod dystrophy-2, retinitis pigmentosa, and Leber's
21 hin the 18-cM interval of STGD3 but excludes cone-rod dystrophy 7 (CORD7; centromeric) and North Caro
23 ined the mechanism behind autosomal dominant cone-rod dystrophy (adCORD) caused by 12 base pair (bp)
24 ation, and some forms of autosomal recessive cone-rod dystrophy and autosomal recessive retinitis pig
27 rative diseases, including two patients with cone-rod dystrophy and one with bilateral progressive ma
28 eneration of childhood onset) to adult onset cone-rod dystrophy and retinitis pigmentosa (an adult on
30 is only the fourth gene to be implicated in cone-rod dystrophy and this is the first report of domin
31 box gene) have been associated with dominant cone-rod dystrophy and with de novo Leber congenital ama
34 ng Stargardt disease, fundus flavimaculatus, cone-rod dystrophy, and age-related macular degeneration
35 clinically diagnosed with Stargardt disease, cone-rod dystrophy, and other ABCA4-associated phenotype
36 ABCA4 cause the related diseases, recessive cone-rod dystrophy, and recessive Stargardt macular dege
37 is pigmentosa (arRP) and autosomal recessive cone-rod dystrophy (arCRD) however, the function of EYS
44 ntly been associated with autosomal dominant cone-rod dystrophy (CORD) as well as dominant Leber cong
45 g protein 1 (GCAP1) cause slowly progressing cone-rod dystrophy (CORD) in a dozen families worldwide.
47 rt a role for toll-like receptor 3 (TLR3) in cone-rod dystrophy (CORD) of mice lacking ATP-binding ca
48 igmentosa (RP), two with autosomal recessive cone-rod dystrophy (CORD), and two with the related comp
51 ave previously been associated with dominant cone-rod dystrophies (CORD6) and recessive forms of Lebe
52 This new localisation for autosomal dominant cone-rod dystrophy (CORD6) overlaps with regions attribu
53 d R787C, in ROS-GC1 have been connected with cone-rod dystrophy (CORD6), with only one type of point
57 The combination of recessively inherited cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI
58 ase (STGD), retinitis pigmentosa (RP19), and cone-rod dystrophy (CRD) and have also been found in a f
60 in this study represent the second report of cone-rod dystrophy (CRD) cases caused by mutations in RA
62 tosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harborin
63 e with retinitis pigmentosa (RP), three with cone-rod dystrophy (CRD), and eight without retinal dise
65 ion, an independent individual with X-linked cone-rod dystrophy demonstrated a 1-nt insertion (insA)
67 Baf, an E80A mutation of CRX associated with cone-rod dystrophy has a higher than normal transactivat
69 ion at position 50 of human GCAP1 results in cone-rod dystrophy in a family carrying this mutation.
70 of which has been shown to cause late-onset cone-rod dystrophy in a patient and retinal degeneration
72 mutations of Crx, R41W and E80A, that cause cone-rod dystrophy in humans and lie within the homeodom
74 inical diagnoses included autosomal dominant cone-rod dystrophy in one family (E168 [delta1 bp] mutat
75 del that we developed, it was found that the cone-rod dystrophy involves altered photoreceptor gene e
76 )Ser in RetGC-1 found in human patients with cone-rod dystrophy is known to shift the Ca(2+) sensitiv
77 ith clinical diagnoses of autosomal dominant cone-rod dystrophy, late-onset dominant retinitis pigmen
78 age analysis excluded all the known cone and cone-rod dystrophy loci, except the chromosome 6p21.1 re
80 phy (Leber) and progressive diseases such as cone-rod dystrophy or retinitis pigmentosa, with a wide
81 ntly affect cone-mediated function (cone and cone-rod dystrophies) or rod-mediated function (retiniti
84 the first animal model for P/rds-associated cone-rod dystrophy, R172W mice provide a valuable tool f
85 lar ataxia type 7 (SCA7) is characterized by cone-rod dystrophy retinal degeneration and is caused by
87 , MKS1, OFD1, and AHI1/Jouberin proteins and cone-rod dystrophy syndrome genes, including UNC-119/HRG
88 (RIM1) gene in CORD7, an autosomal dominant cone-rod dystrophy that localises to chromosome 6q14.
89 osis type 1, which also maps to 17q11.2, and cone-rod dystrophy was examined for a deletion of UNC-11
90 an also cause dominant macular dystrophy and cone-rod dystrophy, which primarily affect cone photorec
91 rafish may cause rod-cone dystrophy, but not cone-rod dystrophy, while interfering with the phagocyto
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