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1 th cone-rod dystrophy (CORD), and three with retinitis pigmentosa.
2 ntal retardation, and one subject exhibiting retinitis pigmentosa.
3 resembling a dry desert land and ends with a retinitis pigmentosa.
4 nts from the Trial of Oral Valproic Acid for Retinitis Pigmentosa.
5 henotype in rd10 mice, a model for inherited retinitis pigmentosa.
6 ents with retinal degenerative diseases like retinitis pigmentosa.
7 in a rhodopsin knockout (RKO) mouse model of retinitis pigmentosa.
8 s in retinal wholemounts in a mouse model of retinitis pigmentosa.
9 model of the retinal degeneration condition retinitis pigmentosa.
10 spicule-like pigmented deposits, typical for retinitis pigmentosa.
11 (BBS), Leber congenital amaurosis (LCA), and retinitis pigmentosa.
12 macular degeneration, Stargardt disease, and retinitis pigmentosa.
13 2 missense mutations that cause nonsyndromic retinitis pigmentosa.
14 acular degeneration, retinal detachment, and retinitis pigmentosa.
15 e RP2 gene lead to a severe form of X-linked retinitis pigmentosa.
16 of a small protein therapy for some forms of retinitis pigmentosa.
17 t-Biedl syndrome usually develop early-onset retinitis pigmentosa.
18 electroretinogram confirmed the diagnosis of retinitis pigmentosa.
19 the most common cause of autosomal dominant retinitis pigmentosa.
20 when subretinally injected in a rat model of retinitis pigmentosa.
21 r-old P23H rhodopsin transgenic rat model of retinitis pigmentosa.
22 or rod ERG function associated with X-linked retinitis pigmentosa.
23 e Leber congenital amaurosis and early-onset retinitis pigmentosa.
24 s or pathways pathologically associated with retinitis pigmentosa.
25 toreceptor death found in autosomal dominant retinitis pigmentosa.
26 dt disease and the Mertk(-/-) mouse model of retinitis pigmentosa.
27 members of a family with autosomal recessive retinitis pigmentosa.
28 n RPE65-LCA fell within reported results for retinitis pigmentosa.
29 ne of the most common causes of all forms of retinitis pigmentosa.
30 otoreceptors from degeneration in a model of retinitis pigmentosa.
31 ome vision in patients previously blind from retinitis pigmentosa.
32 ve Leber congenital amaurosis to later onset retinitis pigmentosa.
33 transgenic mouse as a preclinical model for retinitis pigmentosa.
34 eneration pedigree affected predominantly by retinitis pigmentosa.
35 cavefish resemble retinal diseases, such as retinitis pigmentosa.
36 outer retinal degeneration diseases such as retinitis pigmentosa.
37 models of both multiple sclerosis and human retinitis pigmentosa.
38 Leigh syndrome and 7 with neuropathy ataxia retinitis pigmentosa.
39 is the mouse counterpart of 1 type of human retinitis pigmentosa.
40 used in gene therapy studies seeking to cure retinitis pigmentosa.
41 st 1 eye), and a negative family history for retinitis pigmentosa.
42 promising treatment option for patients with retinitis pigmentosa.
43 ses and visual behaviors in rodent models of Retinitis pigmentosa.
44 al vein occlusion 0.50%, macular hole 0.20%, retinitis pigmentosa 0.12%. and retinal detachment 0.10%
45 ular degeneration (35), optic neuritis (18), retinitis pigmentosa (17), and diabetic retinopathy (16)
51 ilies with a diagnosis of autosomal dominant retinitis pigmentosa, 35 families with unspecified macul
52 e regulator (RPGR) gene are a major cause of retinitis pigmentosa, a blinding retinal disease resulti
53 mutation in IRBP was found in patients with retinitis pigmentosa, a frequent cause of retinal degene
55 utation in the human IRBP has been linked to retinitis pigmentosa, a progressive retinal degenerative
57 provisional diagnosis of autosomal dominant retinitis pigmentosa (adRP) that have disease-causing mu
58 from families affected by autosomal-dominant retinitis pigmentosa (adRP), a rare disorder characteriz
64 ilies diagnosed as having autosomal dominant retinitis pigmentosa and 10% in families with variable c
65 ere omitted for 2 patients with non-X-linked retinitis pigmentosa and 16 patients who were unable to
66 itry, degenerate in retinal diseases such as retinitis pigmentosa and age related macular degeneratio
67 ntion of blinding degenerative diseases like retinitis pigmentosa and age-related macular degeneratio
69 use of untreatable blindness worldwide, with retinitis pigmentosa and cone dystrophy affecting approx
70 al degeneration and visual disorders such as retinitis pigmentosa and congenital stationary night bli
71 ndrome known as Short stature, Hearing loss, Retinitis pigmentosa and distinctive Facies (SHRF, #OMIM
73 s that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidat
76 ular age-related macular degeneration (AMD), retinitis pigmentosa, and diabetic retinopathy are assoc
77 nvolved in age-related macular degeneration, retinitis pigmentosa, and Leber's congenital amaurosis m
78 the proband presents with hepatic fibrosis, retinitis pigmentosa, and postaxial polydactyly; he harb
79 sing CRISPR/Cas9 to model the human disorder retinitis pigmentosa, and to introduce point mutations o
80 lar diseases such as choroideremia, X-linked retinitis pigmentosa, and X-linked ocular albinism may h
82 such as age-related macular degeneration and retinitis pigmentosa, are the leading cause of blindness
83 ominant diseases, such as autosomal dominant retinitis pigmentosa, are thought to arise due to haploi
84 (n = 80) or autosomal recessive nonsyndromic retinitis pigmentosa (ARRP) (n = 47) associated with bia
85 EYS are associated with autosomal recessive retinitis pigmentosa (arRP) and autosomal recessive cone
86 sin gene associated with autosomal recessive retinitis pigmentosa (arRP) has yet to be determined.
87 otype in 4 families with autosomal recessive retinitis pigmentosa (arRP) that can be associated with
88 ing of patients diagnosed as having X-linked retinitis pigmentosa, as well as for establishing accura
89 We further found that PRPF8 mutants causing Retinitis pigmentosa assemble less efficiently with the
90 lium (RPE) from an individual suffering from retinitis pigmentosa associated with biallelic variants
91 encing or high-throughput sequencing for all retinitis pigmentosa-associated genes in patients, and s
92 Here, using a murine model of severe human retinitis pigmentosa at a stage when no host rod cells r
93 tics with potential applications not only in retinitis pigmentosa, but also in age-related macular de
96 dopsin gene cause approximately one-tenth of retinitis pigmentosa cases worldwide, and most result in
99 this issue in an established mouse model of Retinitis Pigmentosa caused by the P23H mutation in rhod
100 understanding other dominant diseases (e.g., retinitis pigmentosa) caused by missense mutations in me
101 ain humans diagnosed with autosomal dominant retinitis pigmentosa, causes toxicity through forming a
103 t use, to our knowledge, of human iPSCs with retinitis pigmentosa-causing mutations to look at pathop
105 cens (RPA) is an autosomal recessive form of retinitis pigmentosa characterized by white dotlike depo
107 macular degeneration (wet AMD), Luxturna for retinitis pigmentosa, Dextenza (0.4 mg dexamethasone int
108 omitant loss of retinal function that mimics retinitis pigmentosa due to mutations in the CRB1 gene.
109 tified homozygous REEP6-E75K mutation in two retinitis pigmentosa families of different ethnicities.
110 etinal degeneration in XLRP.Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) cause retin
115 ve disease-causing mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene or the
117 th retinitis pigmentosa (RP) associated with retinitis pigmentosa GTPase regulator gene (RPGR) mutati
118 ogression rates, and interocular symmetry in retinitis pigmentosa GTPase regulator gene (RPGR)-associ
119 addition, SPATA7 directly interacts with the retinitis pigmentosa GTPase regulator interacting protei
123 y leading to decreased expression of FTO and retinitis pigmentosa GTPase regulator-interacting protei
125 e limited visual perception to patients with retinitis pigmentosa, however loss of retinal ganglion c
126 horoidal neovascularization in 2.3% of eyes; retinitis pigmentosa in 1.9% of eyes; severe cough in 1.
127 etinal dystrophy in 82% (19/23), followed by retinitis pigmentosa in 14% (3/23) and cone-rod dystroph
129 PF8, and PRPF31) cause nonsyndromic dominant retinitis pigmentosa in humans, an inherited retinal deg
141 Rod-cone dystrophy (RCD), also known as retinitis pigmentosa, is a progressive inherited retinal
143 tained families with a clinical diagnosis of retinitis pigmentosa, macular dystrophy, and/or pattern
146 all-trans-retinal from the retina, and in a retinitis pigmentosa mouse model with impaired retinal p
147 d CRB1 and CRB2 gene therapy vectors in Crb1-retinitis pigmentosa mouse models at mid-stage disease.
148 Secondary VPT (n = 67) occurred in eyes with retinitis pigmentosa (n = 15, 22%), pars planitis (n = 1
149 and neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), in mammalian oocytes using
152 deficiency is linked to human diseases like retinitis pigmentosa or myeloid neoplasia, but its genom
153 specific visual cortical gray matter loss in Retinitis Pigmentosa patients associated with their visu
154 is likely the cause of phenotype observed in retinitis pigmentosa patients carrying T17M mutation.
158 whole brain gray matter volume changes in 27 Retinitis Pigmentosa patients with partially preserved v
159 of several rhodopsin mutations identified in retinitis pigmentosa patients, including F220C and F45L,
160 d deletion of codon 153 (K153Delta) leads to retinitis pigmentosa, pattern dystrophy, and fundus flav
161 is a rare disorder characterized by obesity, retinitis pigmentosa, polydactyly, mental retardation an
164 Vision impairments and blindness caused by retinitis pigmentosa result from severe neurodegeneratio
169 Outer retinal degenerative diseases, such as retinitis pigmentosa (RP) and age-related macular degene
171 ncurable blinding retinal diseases including retinitis pigmentosa (RP) and atrophic age-related macul
172 ness in a number of retinal diseases such as retinitis pigmentosa (RP) and atrophic age-related macul
173 d and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hea
175 generation and clinical phenotypes including retinitis pigmentosa (RP) and congenital stationary nigh
176 rials for the inherited degenerative disease retinitis pigmentosa (RP) and for dry age-related macula
177 For ill-defined reasons, CS degenerate in retinitis pigmentosa (RP) and in the transitional zone (
178 ripherin 2 (PRPH2) have been associated with retinitis pigmentosa (RP) and macular/pattern dystrophie
179 d to various retinal degenerations including retinitis pigmentosa (RP) and macular/pattern dystrophy
183 reatments for cystoid macular edema (CME) in retinitis pigmentosa (RP) are not always effective, may
184 eber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases
185 oherence tomography (SDOCT) in patients with retinitis pigmentosa (RP) associated with retinitis pigm
188 Several mutations in PRCD are linked to retinitis pigmentosa (RP) in canines and humans, and whi
211 ted for some RP cases.SIGNIFICANCE STATEMENT Retinitis pigmentosa (RP) is an inherited, degenerative
212 associated with the various genetic forms of retinitis pigmentosa (RP) is currently untreatable and l
214 ird-most common cause of autosomal recessive retinitis pigmentosa (RP) is due to defective cGMP phosp
219 some vision to patients blind as a result of retinitis pigmentosa (RP) or outer retinal degeneration.
220 t, we assess the natural progression rate of retinitis pigmentosa (RP) over an average of three years
221 analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (
222 cing (NGS) based molecular diagnosis for 105 Retinitis Pigmentosa (RP) patients randomly selected fro
225 vel the molecular pathogenesis of an unusual retinitis pigmentosa (RP) phenotype observed in a Turkis
227 e limited published data on the phenotype of retinitis pigmentosa (RP) related to CNGB1 variants.
230 USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sen
231 imately 36 000 cases of simplex and familial retinitis pigmentosa (RP) worldwide are caused by a loss
233 the rhodopsin gene have been associated with retinitis pigmentosa (RP), a family of inherited visual
236 therapy has shown great promise in treating retinitis pigmentosa (RP), a primary photoreceptor degen
237 cells, are the most common cause of dominant retinitis pigmentosa (RP), a type of inherited blindness
238 tinal and brain pathologies, but its role in retinitis pigmentosa (RP), an inherited and largely incu
239 by congenital sensorineural hearing loss and retinitis pigmentosa (RP), and also contribute to autoso
240 retinal diseases, such as Stargardt disease, retinitis pigmentosa (RP), and atrophic age-related macu
241 viously reported to cause autosomal dominant retinitis pigmentosa (RP), and described their detailed
242 mans, such as Leber congenital amaurosis and retinitis pigmentosa (RP), are attributed to either homo
243 itary retinal degenerative diseases, such as retinitis pigmentosa (RP), are characterized by the prog
244 unrelated families with autosomal recessive retinitis pigmentosa (RP), but without extraocular invol
246 indings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or c
247 individuals, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insuf
248 y photoreceptor cells and cause nonsyndromic retinitis pigmentosa (RP), raising the issue of why cert
250 involved in O-mannosyl glycosylation, cause retinitis pigmentosa (RP), RP25 and RP76, respectively.
252 composed of IRD two with autosomal dominant retinitis pigmentosa (RP), two with autosomal recessive
270 phenotype groups were identified in EYS-RD: retinitis pigmentosa (RP; 85.94%), cone-rod dystrophy (C
272 ere autosomal recessive retinal dystrophies (retinitis pigmentosa RP64 and cone-rod dystrophy CORD16)
273 risons with published studies of ungenotyped retinitis pigmentosa showed that the RPE65-LCA patients
274 d to unravel the molecular basis of sporadic retinitis pigmentosa (sRP) in the largest cohort reporte
277 higher photosynthetic organisms, as well as Retinitis Pigmentosa Type 2-Clathrin Light Chain, a memb
278 tegies to optimize outcomes in patients with retinitis pigmentosa undergoing retinal prosthesis impla
279 disease, age-related macular degeneration or retinitis pigmentosa urgently require the development of
281 udinal imaging follow-up in 71 patients with retinitis pigmentosa was studied using the main outcome
282 light perception or worse in both eyes) with retinitis pigmentosa were implanted with the Argus II pr
283 t male patients diagnosed as having X-linked retinitis pigmentosa were randomized to DHA or placebo.
285 he RPGR gene cause a common form of X-linked retinitis pigmentosa, which often results in severe loss
286 ophy and some exhibited macular dystrophy or retinitis pigmentosa, while all presented with macular d
287 ient demonstrated an unexpected diagnosis of retinitis pigmentosa with a novel variant of unknown sig
289 o groups of patients suffering from advanced retinitis pigmentosa with specific deterioration of the
290 tor (RPGR) gene account for >70% of X-linked retinitis pigmentosa (XLRP) and 15-20% of all inherited
291 tations in the human RP2 gene cause X-linked retinitis pigmentosa (XLRP) and cone-rod dystrophy (XL-C
292 ation (M58K) found in a family with X-linked retinitis pigmentosa (XLRP) and show that this missense
294 ges of disease in a canine model of X-linked retinitis pigmentosa (XLRP) caused by a mutation in the
296 in the pathogenesis associated with X-linked retinitis pigmentosa (XLRP) resulting from mutations in