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1 d dystrophy (CORD), and three with retinitis pigmentosa.
2 dation, and one subject exhibiting retinitis pigmentosa.
3 a dry desert land and ends with a retinitis pigmentosa.
4 he Trial of Oral Valproic Acid for Retinitis Pigmentosa.
5 n rd10 mice, a model for inherited retinitis pigmentosa.
6 retinal degenerative diseases like retinitis pigmentosa.
7 psin knockout (RKO) mouse model of retinitis pigmentosa.
8 al wholemounts in a mouse model of retinitis pigmentosa.
9 the retinal degeneration condition retinitis pigmentosa.
10 ke pigmented deposits, typical for retinitis pigmentosa.
11 er congenital amaurosis (LCA), and retinitis pigmentosa.
12 generation, Stargardt disease, and retinitis pigmentosa.
13 mutations that cause nonsyndromic retinitis pigmentosa.
14 eneration, retinal detachment, and retinitis pigmentosa.
15 lead to a severe form of X-linked retinitis pigmentosa.
16 protein therapy for some forms of retinitis pigmentosa.
17 ndrome usually develop early-onset retinitis pigmentosa.
18 tinally injected in a rat model of retinitis pigmentosa.
19 inogram confirmed the diagnosis of retinitis pigmentosa.
20 common cause of autosomal dominant retinitis pigmentosa.
21 rhodopsin transgenic rat model of retinitis pigmentosa.
22 function associated with X-linked retinitis pigmentosa.
23 ngenital amaurosis and early-onset retinitis pigmentosa.
24 ays pathologically associated with retinitis pigmentosa.
25 death found in autosomal dominant retinitis pigmentosa.
26 and the Mertk(-/-) mouse model of retinitis pigmentosa.
27 a family with autosomal recessive retinitis pigmentosa.
28 A fell within reported results for retinitis pigmentosa.
29 most common causes of all forms of retinitis pigmentosa.
30 rs from degeneration in a model of retinitis pigmentosa.
31 ongenital amaurosis to later onset retinitis pigmentosa.
32 c mouse as a preclinical model for retinitis pigmentosa.
33 pedigree affected predominantly by retinitis pigmentosa.
34 resemble retinal diseases, such as retinitis pigmentosa.
35 inal degeneration diseases such as retinitis pigmentosa.
36 both multiple sclerosis and human retinitis pigmentosa.
37 drome and 7 with neuropathy ataxia retinitis pigmentosa.
38 use counterpart of 1 type of human retinitis pigmentosa.
39 ne therapy studies seeking to cure retinitis pigmentosa.
40 and a negative family history for retinitis pigmentosa.
41 treatment option for patients with retinitis pigmentosa.
42 sual behaviors in rodent models of Retinitis pigmentosa.
43 clusion 0.50%, macular hole 0.20%, retinitis pigmentosa 0.12%. and retinal detachment 0.10%.The preva
50 a diagnosis of autosomal dominant retinitis pigmentosa, 35 families with unspecified macular dystrop
51 r (RPGR) gene are a major cause of retinitis pigmentosa, a blinding retinal disease resulting from ph
52 in IRBP was found in patients with retinitis pigmentosa, a frequent cause of retinal degeneration.
54 the human IRBP has been linked to retinitis pigmentosa, a progressive retinal degenerative disease.
56 al diagnosis of autosomal dominant retinitis pigmentosa (adRP) that have disease-causing mutations in
57 ies affected by autosomal-dominant retinitis pigmentosa (adRP), a rare disorder characterized by nigh
58 The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision and bli
63 nosed as having autosomal dominant retinitis pigmentosa and 10% in families with variable clinical di
64 d for 2 patients with non-X-linked retinitis pigmentosa and 16 patients who were unable to follow pro
65 nerate in retinal diseases such as retinitis pigmentosa and age related macular degeneration leading
67 reatable blindness worldwide, with retinitis pigmentosa and cone dystrophy affecting approximately 1
68 ation and visual disorders such as retinitis pigmentosa and congenital stationary night blindness (CS
69 wn as Short stature, Hearing loss, Retinitis pigmentosa and distinctive Facies (SHRF, #OMIM 617763).
71 2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidate for this
72 enerative retinal diseases such as retinitis pigmentosa and macular degeneration cause irreversible v
75 ignificantly between patients with urticaria pigmentosa and those with diffuse cutaneous (P < .0001)
76 peptide, hip bone mineral density, urticaria pigmentosa, and alcohol intake are easy to collect in cl
77 p bone mineral density, absence of urticaria pigmentosa, and alcohol intake at the time of ISM diagno
78 yneuropathy, hearing loss, ataxia, retinosis pigmentosa, and cataract), is a principal lysophosphatid
79 elated macular degeneration (AMD), retinitis pigmentosa, and diabetic retinopathy are associated with
80 age-related macular degeneration, retinitis pigmentosa, and Leber's congenital amaurosis matched wel
82 nd presents with hepatic fibrosis, retinitis pigmentosa, and postaxial polydactyly; he harbors a de n
83 R/Cas9 to model the human disorder retinitis pigmentosa, and to introduce point mutations or exogenou
84 d-cone degenerations, for example, retinitis pigmentosa are leading causes of blindness worldwide.
85 e-related macular degeneration and retinitis pigmentosa, are the leading cause of blindness in the de
86 seases, such as autosomal dominant retinitis pigmentosa, are thought to arise due to haploinsufficien
87 r autosomal recessive nonsyndromic retinitis pigmentosa (ARRP) (n = 47) associated with biallelic dis
88 ssociated with autosomal recessive retinitis pigmentosa (arRP) and autosomal recessive cone-rod dystr
90 families with autosomal recessive retinitis pigmentosa (arRP) that can be associated with pseudocolo
91 r found that PRPF8 mutants causing Retinitis pigmentosa assemble less efficiently with the U5 snRNP a
92 from an individual suffering from retinitis pigmentosa associated with biallelic variants in MERTK.
93 high-throughput sequencing for all retinitis pigmentosa-associated genes in patients, and segregation
94 ing a murine model of severe human retinitis pigmentosa at a stage when no host rod cells remain, we
95 potential applications not only in retinitis pigmentosa, but also in age-related macular degeneration
97 e cause approximately one-tenth of retinitis pigmentosa cases worldwide, and most result in endoplasm
100 e in an established mouse model of Retinitis Pigmentosa caused by the P23H mutation in rhodopsin.
101 ing other dominant diseases (e.g., retinitis pigmentosa) caused by missense mutations in membrane pro
102 diagnosed with autosomal dominant retinitis pigmentosa, causes toxicity through forming a stable com
103 e found that neurofibromatosis- or retinitis pigmentosa-causing mutations in the 5' regions of Py tra
104 our knowledge, of human iPSCs with retinitis pigmentosa-causing mutations to look at pathophysiology
106 is an autosomal recessive form of retinitis pigmentosa characterized by white dotlike deposits in th
107 Twelve DEGs were associated with retinitis pigmentosa, characterized by dystrophy of the photorecep
108 generation (wet AMD), Luxturna for retinitis pigmentosa, Dextenza (0.4 mg dexamethasone intracanalicu
111 eneration in XLRP.Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) cause retinal dystrop
116 -causing mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene or the retinitis
119 rates, and interocular symmetry in retinitis pigmentosa GTPase regulator gene (RPGR)-associated retin
120 SPATA7 directly interacts with the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRI
121 tions in the ciliary protein RPGR (retinitis pigmentosa GTPase regulator) are a prominent cause of se
122 tions in the ciliary protein RPGR (retinitis pigmentosa GTPase regulator) are common causes of RP-ass
124 to decreased expression of FTO and retinitis pigmentosa GTPase regulator-interacting protein-1 like (
125 s unclear how genes, such as RPGR (retinitis pigmentosa guanine triphosphatase regulator) that are ex
126 visual perception to patients with retinitis pigmentosa, however loss of retinal ganglion cells precl
127 eovascularization in 2.3% of eyes; retinitis pigmentosa in 1.9% of eyes; severe cough in 1.9% of eyes
128 trophy in 82% (19/23), followed by retinitis pigmentosa in 14% (3/23) and cone-rod dystrophy (4%, 1/2
130 RPF31) cause nonsyndromic dominant retinitis pigmentosa in humans, an inherited retinal degeneration.
132 The mutations cosegregated with retinitis pigmentosa in the studied families, and the affected ami
141 one dystrophy (RCD), also known as retinitis pigmentosa, is a progressive inherited retinal disorder
143 ilies with a clinical diagnosis of retinitis pigmentosa, macular dystrophy, and/or pattern dystrophy.
146 -retinal from the retina, and in a retinitis pigmentosa mouse model with impaired retinal pigment epi
148 VPT (n = 67) occurred in eyes with retinitis pigmentosa (n = 15, 22%), pars planitis (n = 14, 21%), C
149 genic muscle weakness, ataxia, and retinitis pigmentosa (NARP), in mammalian oocytes using mitochondr
151 nts with and without osteoporosis, urticaria pigmentosa or anaphylaxis, respectively (P < 0.001).
152 Several human diseases, such as retinitis pigmentosa or congenital night blindness, are linked to
153 y is linked to human diseases like retinitis pigmentosa or myeloid neoplasia, but its genome-wide eff
154 isual cortical gray matter loss in Retinitis Pigmentosa patients associated with their visual functio
159 n gray matter volume changes in 27 Retinitis Pigmentosa patients with partially preserved vision and
160 rhodopsin mutations identified in retinitis pigmentosa patients, including F220C and F45L, has been
161 of codon 153 (K153Delta) leads to retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus
162 disorder characterized by obesity, retinitis pigmentosa, polydactyly, mental retardation and suscepti
165 mpairments and blindness caused by retinitis pigmentosa result from severe neurodegeneration that lea
167 king advantage of a mouse model of retinitis pigmentosa ( Rho(P23H/P23H)), we clarified the roles of
168 We analyze disease progression in retinitis pigmentosa (RP) according to mode of inheritance by quan
170 nal degenerative diseases, such as retinitis pigmentosa (RP) and age-related macular degeneration (AM
172 linding retinal diseases including retinitis pigmentosa (RP) and atrophic age-related macular degener
173 number of retinal diseases such as retinitis pigmentosa (RP) and atrophic age-related macular degener
174 versible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss.
176 and clinical phenotypes including retinitis pigmentosa (RP) and congenital stationary night blindnes
177 -defined reasons, CS degenerate in retinitis pigmentosa (RP) and in the transitional zone (TZ) of atr
178 (PRPH2) have been associated with retinitis pigmentosa (RP) and macular/pattern dystrophies, but the
179 us retinal degenerations including retinitis pigmentosa (RP) and macular/pattern dystrophy (MD/PD).
182 Stargardt's disease (STGD) and Retinitis Pigmentosa (RP) are inherited retinal degenerations that
183 for cystoid macular edema (CME) in retinitis pigmentosa (RP) are not always effective, may lead to ad
184 nital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases that caus
185 omography (SDOCT) in patients with retinitis pigmentosa (RP) associated with retinitis pigmentosa GTP
187 Cystoid macular edema (CME) in retinitis pigmentosa (RP) has been managed in several ways as docu
188 al mutations in PRCD are linked to retinitis pigmentosa (RP) in canines and humans, and while recent
203 Photoreceptor degeneration due to retinitis pigmentosa (RP) is a primary cause of inherited retinal
211 me RP cases.SIGNIFICANCE STATEMENT Retinitis pigmentosa (RP) is an inherited, degenerative retinal di
212 with the various genetic forms of retinitis pigmentosa (RP) is currently untreatable and leads to pa
214 ommon cause of autosomal recessive retinitis pigmentosa (RP) is due to defective cGMP phosphodiestera
218 use the secondary loss of cones in retinitis pigmentosa (RP) leads to blindness, the administration o
220 ss the natural progression rate of retinitis pigmentosa (RP) over an average of three years using spe
221 e genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (AJ) descen
222 based molecular diagnosis for 105 Retinitis Pigmentosa (RP) patients randomly selected from the netw
225 lecular pathogenesis of an unusual retinitis pigmentosa (RP) phenotype observed in a Turkish consangu
230 utations are an important cause of retinitis pigmentosa (RP) with or without congenital sensorineural
232 sin gene have been associated with retinitis pigmentosa (RP), a family of inherited visual disorders.
235 as shown great promise in treating retinitis pigmentosa (RP), a primary photoreceptor degeneration th
236 the most common cause of dominant retinitis pigmentosa (RP), a type of inherited blindness caused by
237 brain pathologies, but its role in retinitis pigmentosa (RP), an inherited and largely incurable phot
238 tal sensorineural hearing loss and retinitis pigmentosa (RP), and also contribute to autosomal recess
239 seases, such as Stargardt disease, retinitis pigmentosa (RP), and atrophic age-related macular degene
240 ported to cause autosomal dominant retinitis pigmentosa (RP), and described their detailed clinical p
241 as Leber congenital amaurosis and retinitis pigmentosa (RP), are attributed to either homozygous or
242 nal degenerative diseases, such as retinitis pigmentosa (RP), are characterized by the progressive lo
243 families with autosomal recessive retinitis pigmentosa (RP), but without extraocular involvement.
245 patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystro
246 ls, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency,
247 eptor cells and cause nonsyndromic retinitis pigmentosa (RP), raising the issue of why certain mutati
251 of IRD two with autosomal dominant retinitis pigmentosa (RP), two with autosomal recessive cone-rod d
269 groups were identified in EYS-RD: retinitis pigmentosa (RP; 85.94%), cone-rod dystrophy (CORD; 10.94
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 el the molecular basis of sporadic retinitis pigmentosa (sRP) in the largest cohort reported to date.
276 Patient phenotypes range from retinitis pigmentosa to various forms of macular and pattern dystr
277 otosynthetic organisms, as well as Retinitis Pigmentosa Type 2-Clathrin Light Chain, a membrane prote
278 optimize outcomes in patients with retinitis pigmentosa undergoing retinal prosthesis implantation.
279 ge-related macular degeneration or retinitis pigmentosa urgently require the development of new thera
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
285 ne cause a common form of X-linked retinitis pigmentosa, which often results in severe loss of vision
286 ome exhibited macular dystrophy or retinitis pigmentosa, while all presented with macular damage.
287 strated an unexpected diagnosis of retinitis pigmentosa with a novel variant of unknown significance
289 f patients suffering from advanced retinitis pigmentosa with specific deterioration of the visual fie
290 gene account for >70% of X-linked retinitis pigmentosa (XLRP) and 15-20% of all inherited retinal de
292 K) found in a family with X-linked retinitis pigmentosa (XLRP) and show that this missense variation
294 ease in a canine model of X-linked retinitis pigmentosa (XLRP) caused by a mutation in the Retinitis
296 hogenesis associated with X-linked retinitis pigmentosa (XLRP) resulting from mutations in the ARL3 G