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1 the retinal degeneration condition retinitis pigmentosa.
2 ke pigmented deposits, typical for retinitis pigmentosa.
3 er congenital amaurosis (LCA), and retinitis pigmentosa.
4 treatment option for patients with retinitis pigmentosa.
5 generation, Stargardt disease, and retinitis pigmentosa.
6 mutations that cause nonsyndromic retinitis pigmentosa.
7 eneration, retinal detachment, and retinitis pigmentosa.
8 lead to a severe form of X-linked retinitis pigmentosa.
9 protein therapy for some forms of retinitis pigmentosa.
10 ndrome usually develop early-onset retinitis pigmentosa.
11 inogram confirmed the diagnosis of retinitis pigmentosa.
12 common cause of autosomal dominant retinitis pigmentosa.
13 rhodopsin transgenic rat model of retinitis pigmentosa.
14 function associated with X-linked retinitis pigmentosa.
15 ngenital amaurosis and early-onset retinitis pigmentosa.
16 sual behaviors in rodent models of Retinitis pigmentosa.
17 ays pathologically associated with retinitis pigmentosa.
18 death found in autosomal dominant retinitis pigmentosa.
19 and the Mertk(-/-) mouse model of retinitis pigmentosa.
20 a family with autosomal recessive retinitis pigmentosa.
21 A fell within reported results for retinitis pigmentosa.
22 most common causes of all forms of retinitis pigmentosa.
23 rs from degeneration in a model of retinitis pigmentosa.
24 in patients previously blind from retinitis pigmentosa.
25 l degeneration in a mouse model of retinitis pigmentosa.
26 eneration, Stargardt's disease and retinitis pigmentosa.
27 mortem from a donor with end-stage retinitis pigmentosa.
28 alance dysfunction and progressive retinitis pigmentosa.
29 ed to date, presenting early onset retinitis pigmentosa.
30 e are a frequent cause of X-linked retinitis pigmentosa.
31 enic P23H mutant rhodopsin model of retinits pigmentosa.
32 nsitive protein of rod cells-cause retinitis pigmentosa.
33 tal stationary night blindness and retinitis pigmentosa.
34 inding disease, autosomal dominant retinitis pigmentosa.
35 no other clinical disease besides retinitis pigmentosa.
36 ore, NRL mutations in humans cause retinitis pigmentosa.
37 utation only present with isolated retinitis pigmentosa.
38 inding disease, autosomal dominant retinitis pigmentosa.
39 and a negative family history for retinitis pigmentosa.
40 dation, and one subject exhibiting retinitis pigmentosa.
41 a dry desert land and ends with a retinitis pigmentosa.
42 he Trial of Oral Valproic Acid for Retinitis Pigmentosa.
43 n rd10 mice, a model for inherited retinitis pigmentosa.
44 retinal degenerative diseases like retinitis pigmentosa.
45 psin knockout (RKO) mouse model of retinitis pigmentosa.
46 al wholemounts in a mouse model of retinitis pigmentosa.
47 clusion 0.50%, macular hole 0.20%, retinitis pigmentosa 0.12%. and retinal detachment 0.10%.The preva
48 commonest cause of low vision was retinitis pigmentosa (16.6%); 14.5% had age related macular degene
55 a diagnosis of autosomal dominant retinitis pigmentosa, 35 families with unspecified macular dystrop
56 r (RPGR) gene are a major cause of retinitis pigmentosa, a blinding retinal disease resulting from ph
57 in IRBP was found in patients with retinitis pigmentosa, a frequent cause of retinal degeneration.
58 the human IRBP has been linked to retinitis pigmentosa, a progressive retinal degenerative disease.
60 al diagnosis of autosomal dominant retinitis pigmentosa (adRP) that have disease-causing mutations in
61 n implicated in autosomal dominant retinitis pigmentosa (adRP), a frequent and important cause of bli
62 ies affected by autosomal-dominant retinitis pigmentosa (adRP), a rare disorder characterized by nigh
67 nosed as having autosomal dominant retinitis pigmentosa and 10% in families with variable clinical di
68 d for 2 patients with non-X-linked retinitis pigmentosa and 16 patients who were unable to follow pro
69 nerate in retinal diseases such as retinitis pigmentosa and age related macular degeneration leading
70 One strategy to restore vision in retinitis pigmentosa and age-related macular degeneration is cell
72 ation and visual disorders such as retinitis pigmentosa and congenital stationary night blindness (CS
75 2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidate for this
79 ignificantly between patients with urticaria pigmentosa and those with diffuse cutaneous (P < .0001)
80 peptide, hip bone mineral density, urticaria pigmentosa, and alcohol intake are easy to collect in cl
81 p bone mineral density, absence of urticaria pigmentosa, and alcohol intake at the time of ISM diagno
82 yneuropathy, hearing loss, ataxia, retinosis pigmentosa, and cataract), is a principal lysophosphatid
83 elated macular degeneration (AMD), retinitis pigmentosa, and diabetic retinopathy are associated with
84 age-related macular degeneration, retinitis pigmentosa, and Leber's congenital amaurosis matched wel
86 age-related macular degeneration, retinitis pigmentosa, and other retinal diseases that can cause pa
87 R/Cas9 to model the human disorder retinitis pigmentosa, and to introduce point mutations or exogenou
88 es such as choroideremia, X-linked retinitis pigmentosa, and X-linked ocular albinism may have signs
89 e-related macular degeneration and retinitis pigmentosa, are the leading cause of blindness in the de
90 seases, such as autosomal dominant retinitis pigmentosa, are thought to arise due to haploinsufficien
91 ssociated with autosomal recessive retinitis pigmentosa (arRP) and autosomal recessive cone-rod dystr
94 families with autosomal recessive retinitis pigmentosa (arRP) that can be associated with pseudocolo
95 patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressiv
96 ients diagnosed as having X-linked retinitis pigmentosa, as well as for establishing accurate patient
97 r found that PRPF8 mutants causing Retinitis pigmentosa assemble less efficiently with the U5 snRNP a
98 from an individual suffering from retinitis pigmentosa associated with biallelic variants in MERTK.
99 ing a murine model of severe human retinitis pigmentosa at a stage when no host rod cells remain, we
101 e cause approximately one-tenth of retinitis pigmentosa cases worldwide, and most result in endoplasm
103 ath in rd10 mice, a mouse model of retinitis pigmentosa caused by a mutation in a rod-specific gene.
105 model the common X-linked form of retinitis pigmentosa caused by mutations in the retinitis pigmento
106 ing other dominant diseases (e.g., retinitis pigmentosa) caused by missense mutations in membrane pro
107 diagnosed with autosomal dominant retinitis pigmentosa, causes toxicity through forming a stable com
108 e found that neurofibromatosis- or retinitis pigmentosa-causing mutations in the 5' regions of Py tra
109 our knowledge, of human iPSCs with retinitis pigmentosa-causing mutations to look at pathophysiology
111 is an autosomal recessive form of retinitis pigmentosa characterized by white dotlike deposits in th
116 eneration in XLRP.Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) cause retinal dystrop
122 al disease due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in human patient
123 -causing mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene or the retinitis
124 mentosa caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene, which encodes a
128 SPATA7 directly interacts with the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRI
129 tions in the ciliary protein RPGR (retinitis pigmentosa GTPase regulator) are a prominent cause of se
130 tions in the ciliary protein RPGR (retinitis pigmentosa GTPase regulator) are common causes of RP-ass
132 to decreased expression of FTO and retinitis pigmentosa GTPase regulator-interacting protein-1 like (
133 s unclear how genes, such as RPGR (retinitis pigmentosa guanine triphosphatase regulator) that are ex
135 visual perception to patients with retinitis pigmentosa, however loss of retinal ganglion cells precl
136 eovascularization in 2.3% of eyes; retinitis pigmentosa in 1.9% of eyes; severe cough in 1.9% of eyes
137 RPF31) cause nonsyndromic dominant retinitis pigmentosa in humans, an inherited retinal degeneration.
138 The mutations cosegregated with retinitis pigmentosa in the studied families, and the affected ami
139 e-related macular degeneration and retinitis pigmentosa, in which oxidative stress is thought to cont
147 one dystrophy (RCD), also known as retinitis pigmentosa, is a progressive inherited retinal disorder
148 mutations may be associated with a retinitis pigmentosa-like phenotype often as a consequence of seve
149 and functionally cooperate and how retinitis pigmentosa-linked Brr2 mutations interfere with the enzy
151 ilies with a clinical diagnosis of retinitis pigmentosa, macular dystrophy, and/or pattern dystrophy.
153 -retinal from the retina, and in a retinitis pigmentosa mouse model with impaired retinal pigment epi
155 VPT (n = 67) occurred in eyes with retinitis pigmentosa (n = 15, 22%), pars planitis (n = 14, 21%), C
156 genic muscle weakness, ataxia, and retinitis pigmentosa (NARP), in mammalian oocytes using mitochondr
158 nts with and without osteoporosis, urticaria pigmentosa or anaphylaxis, respectively (P < 0.001).
159 Several human diseases, such as retinitis pigmentosa or congenital night blindness, are linked to
160 y is linked to human diseases like retinitis pigmentosa or myeloid neoplasia, but its genome-wide eff
161 isual cortical gray matter loss in Retinitis Pigmentosa patients associated with their visual functio
166 n gray matter volume changes in 27 Retinitis Pigmentosa patients with partially preserved vision and
167 of codon 153 (K153Delta) leads to retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus
168 disorder characterized by obesity, retinitis pigmentosa, polydactyly, mental retardation and suscepti
170 any rhodopsin mutations that cause retinitis pigmentosa produce misfolded rhodopsin proteins that are
172 se large animal models of X-linked retinitis pigmentosa provides a path for translation to human trea
174 mpairments and blindness caused by retinitis pigmentosa result from severe neurodegeneration that lea
179 number of retinal diseases such as retinitis pigmentosa (RP) and atrophic age-related macular degener
180 linding retinal diseases including retinitis pigmentosa (RP) and atrophic age-related macular degener
181 versible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss.
183 and clinical phenotypes including retinitis pigmentosa (RP) and congenital stationary night blindnes
184 the inherited degenerative disease retinitis pigmentosa (RP) and for dry age-related macular degenera
185 -defined reasons, CS degenerate in retinitis pigmentosa (RP) and in the transitional zone (TZ) of atr
186 d retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), co
187 us retinal degenerations including retinitis pigmentosa (RP) and macular/pattern dystrophy (MD/PD).
189 Stargardt's disease (STGD) and Retinitis Pigmentosa (RP) are inherited retinal degenerations that
190 for cystoid macular edema (CME) in retinitis pigmentosa (RP) are not always effective, may lead to ad
191 nital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases that caus
192 omography (SDOCT) in patients with retinitis pigmentosa (RP) associated with retinitis pigmentosa GTP
195 Cystoid macular edema (CME) in retinitis pigmentosa (RP) has been managed in several ways as docu
209 Photoreceptor degeneration due to retinitis pigmentosa (RP) is a primary cause of inherited retinal
216 me RP cases.SIGNIFICANCE STATEMENT Retinitis pigmentosa (RP) is an inherited, degenerative retinal di
217 with the various genetic forms of retinitis pigmentosa (RP) is currently untreatable and leads to pa
218 ommon cause of autosomal recessive retinitis pigmentosa (RP) is due to defective cGMP phosphodiestera
219 opsias (spontaneous phosphenes) in retinitis pigmentosa (RP) is related to the severity of vision los
223 use the secondary loss of cones in retinitis pigmentosa (RP) leads to blindness, the administration o
225 ss the natural progression rate of retinitis pigmentosa (RP) over an average of three years using spe
226 e genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descen
227 based molecular diagnosis for 105 Retinitis Pigmentosa (RP) patients randomly selected from the netw
229 lecular pathogenesis of an unusual retinitis pigmentosa (RP) phenotype observed in a Turkish consangu
233 ously-reported GARP2 mutations and retinitis pigmentosa (RP) using Scottish RP patients and controls.
234 rophy (CD) and eight patients with retinitis pigmentosa (RP) were recruited from the Southwest Eye Re
235 retinal degeneration (RD) or with retinitis pigmentosa (RP) were studied with retina-tracking microp
236 utations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural
237 000 cases of simplex and familial retinitis pigmentosa (RP) worldwide are caused by a loss in phosph
240 sin gene have been associated with retinitis pigmentosa (RP), a family of inherited visual disorders.
243 the most common cause of dominant retinitis pigmentosa (RP), a type of inherited blindness caused by
244 ported to cause autosomal dominant retinitis pigmentosa (RP), and described their detailed clinical p
245 as Leber congenital amaurosis and retinitis pigmentosa (RP), are attributed to either homozygous or
246 nal degenerative diseases, such as retinitis pigmentosa (RP), are characterized by the progressive lo
247 families with autosomal recessive retinitis pigmentosa (RP), but without extraocular involvement.
249 patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystro
250 ls, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency,
251 eptor cells and cause nonsyndromic retinitis pigmentosa (RP), raising the issue of why certain mutati
254 of IRD two with autosomal dominant retinitis pigmentosa (RP), two with autosomal recessive cone-rod d
269 reatment of this form of recessive retinitis pigmentosa (RP); however, the beneficial effects on reti
271 mal recessive retinal dystrophies (retinitis pigmentosa RP64 and cone-rod dystrophy CORD16) but not B
272 l maculopapular cutaneous lesions (urticaria pigmentosa) should be subdivided into 2 variants, namely
273 h published studies of ungenotyped retinitis pigmentosa showed that the RPE65-LCA patients had higher
274 neurotrophic factor for late-stage retinitis pigmentosa study 3 (CNTF3; n = 65) and ciliary neurotrop
275 eurotrophic factor for early-stage retinitis pigmentosa study 4 (CNTF4; n = 68) were multicenter, sha
277 Patient phenotypes range from retinitis pigmentosa to various forms of macular and pattern dystr
278 otosynthetic organisms, as well as Retinitis Pigmentosa Type 2-Clathrin Light Chain, a membrane prote
279 optimize outcomes in patients with retinitis pigmentosa undergoing retinal prosthesis implantation.
281 ging follow-up in 71 patients with retinitis pigmentosa was studied using the main outcome measuremen
282 eption or worse in both eyes) with retinitis pigmentosa were implanted with the Argus II prosthesis a
284 of nonpenetrant autosomal dominant retinitis pigmentosa were selected; all underwent full ophthalmic
286 ne cause a common form of X-linked retinitis pigmentosa, which often results in severe loss of vision
287 disrupt a similar signal and cause retinitis pigmentosa, while Bardet-Biedl syndrome, primary open-an
289 gene account for >70% of X-linked retinitis pigmentosa (XLRP) and 15-20% of all inherited retinal de
292 ease in a canine model of X-linked retinitis pigmentosa (XLRP) caused by a mutation in the Retinitis
295 hogenesis associated with X-linked retinitis pigmentosa (XLRP) resulting from mutations in the ARL3 G
296 ciated with 10% to 15% of X-linked retinitis pigmentosa (XLRP), a debilitating disorder characterized
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