コーパス検索結果 (１語後でソート)
通し番号をクリックするとPubMedの該当ページを表示します
1 spicule-like pigmented deposits, typical for retinitis pigmentosa.
2 (BBS), Leber congenital amaurosis (LCA), and retinitis pigmentosa.
3 promising treatment option for patients with retinitis pigmentosa.
4 macular degeneration, Stargardt disease, and retinitis pigmentosa.
5 2 missense mutations that cause nonsyndromic retinitis pigmentosa.
6 acular degeneration, retinal detachment, and retinitis pigmentosa.
7 e RP2 gene lead to a severe form of X-linked retinitis pigmentosa.
8 of a small protein therapy for some forms of retinitis pigmentosa.
9 t-Biedl syndrome usually develop early-onset retinitis pigmentosa.
10 electroretinogram confirmed the diagnosis of retinitis pigmentosa.
11 the most common cause of autosomal dominant retinitis pigmentosa.
12 r-old P23H rhodopsin transgenic rat model of retinitis pigmentosa.
13 or rod ERG function associated with X-linked retinitis pigmentosa.
14 e Leber congenital amaurosis and early-onset retinitis pigmentosa.
15 s or pathways pathologically associated with retinitis pigmentosa.
16 ses and visual behaviors in rodent models of Retinitis pigmentosa.
17 toreceptor death found in autosomal dominant retinitis pigmentosa.
18 dt disease and the Mertk(-/-) mouse model of retinitis pigmentosa.
19 members of a family with autosomal recessive retinitis pigmentosa.
20 n RPE65-LCA fell within reported results for retinitis pigmentosa.
21 ne of the most common causes of all forms of retinitis pigmentosa.
22 otoreceptors from degeneration in a model of retinitis pigmentosa.
23 ome vision in patients previously blind from retinitis pigmentosa.
24 of retinal degeneration in a mouse model of retinitis pigmentosa.
25 acular degeneration, Stargardt's disease and retinitis pigmentosa.
26 ained postmortem from a donor with end-stage retinitis pigmentosa.
27 ring and balance dysfunction and progressive retinitis pigmentosa.
28 s identified to date, presenting early onset retinitis pigmentosa.
29 (RPGR) gene are a frequent cause of X-linked retinitis pigmentosa.
30 e light-sensitive protein of rod cells-cause retinitis pigmentosa.
31 ng congenital stationary night blindness and retinitis pigmentosa.
32 editary-blinding disease, autosomal dominant retinitis pigmentosa.
33 little or no other clinical disease besides retinitis pigmentosa.
34 Furthermore, NRL mutations in humans cause retinitis pigmentosa.
35 missense mutation only present with isolated retinitis pigmentosa.
36 e human blinding disease, autosomal dominant retinitis pigmentosa.
37 (RPGR) gene are a frequent cause of X-linked retinitis pigmentosa.
38 st 1 eye), and a negative family history for retinitis pigmentosa.
39 ntal retardation, and one subject exhibiting retinitis pigmentosa.
40 resembling a dry desert land and ends with a retinitis pigmentosa.
41 nts from the Trial of Oral Valproic Acid for Retinitis Pigmentosa.
42 henotype in rd10 mice, a model for inherited retinitis pigmentosa.
43 ents with retinal degenerative diseases like retinitis pigmentosa.
44 in a rhodopsin knockout (RKO) mouse model of retinitis pigmentosa.
45 s in retinal wholemounts in a mouse model of retinitis pigmentosa.
46 model of the retinal degeneration condition retinitis pigmentosa.
47 al vein occlusion 0.50%, macular hole 0.20%, retinitis pigmentosa 0.12%. and retinal detachment 0.10%
50 UNC119b (but not UNC119a), and the ARL3 GAP Retinitis Pigmentosa 2 (RP2) are required for NPHP3 cili
56 ilies with a diagnosis of autosomal dominant retinitis pigmentosa, 35 families with unspecified macul
57 e regulator (RPGR) gene are a major cause of retinitis pigmentosa, a blinding retinal disease resulti
58 mutation in IRBP was found in patients with retinitis pigmentosa, a frequent cause of retinal degene
59 utation in the human IRBP has been linked to retinitis pigmentosa, a progressive retinal degenerative
61 in PRPF31 in a cohort of autosomal dominant retinitis pigmentosa (adRP) patients with a history of n
62 provisional diagnosis of autosomal dominant retinitis pigmentosa (adRP) that have disease-causing mu
63 1 have been implicated in autosomal dominant retinitis pigmentosa (adRP), a frequent and important ca
64 from families affected by autosomal-dominant retinitis pigmentosa (adRP), a rare disorder characteriz
69 ilies diagnosed as having autosomal dominant retinitis pigmentosa and 10% in families with variable c
70 ere omitted for 2 patients with non-X-linked retinitis pigmentosa and 16 patients who were unable to
71 itry, degenerate in retinal diseases such as retinitis pigmentosa and age related macular degeneratio
75 al degeneration and visual disorders such as retinitis pigmentosa and congenital stationary night bli
78 s that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidat
79 n healthy control subjects and patients with retinitis pigmentosa and Leber's congenital amaurosis.
81 ular age-related macular degeneration (AMD), retinitis pigmentosa, and diabetic retinopathy are assoc
82 nvolved in age-related macular degeneration, retinitis pigmentosa, and Leber's congenital amaurosis m
83 tection of age-related macular degeneration, retinitis pigmentosa, and other retinal diseases that ca
84 sing CRISPR/Cas9 to model the human disorder retinitis pigmentosa, and to introduce point mutations o
85 lar diseases such as choroideremia, X-linked retinitis pigmentosa, and X-linked ocular albinism may h
86 such as age-related macular degeneration and retinitis pigmentosa, are the leading cause of blindness
87 ominant diseases, such as autosomal dominant retinitis pigmentosa, are thought to arise due to haploi
88 EYS are associated with autosomal recessive retinitis pigmentosa (arRP) and autosomal recessive cone
89 sin gene associated with autosomal recessive retinitis pigmentosa (arRP) has yet to be determined.
91 otype in 4 families with autosomal recessive retinitis pigmentosa (arRP) that can be associated with
92 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by
93 ing of patients diagnosed as having X-linked retinitis pigmentosa, as well as for establishing accura
94 We further found that PRPF8 mutants causing Retinitis pigmentosa assemble less efficiently with the
95 lium (RPE) from an individual suffering from retinitis pigmentosa associated with biallelic variants
96 Here, using a murine model of severe human retinitis pigmentosa at a stage when no host rod cells r
98 dopsin gene cause approximately one-tenth of retinitis pigmentosa cases worldwide, and most result in
100 ne cell death in rd10 mice, a mouse model of retinitis pigmentosa caused by a mutation in a rod-speci
102 eases that model the common X-linked form of retinitis pigmentosa caused by mutations in the retiniti
103 understanding other dominant diseases (e.g., retinitis pigmentosa) caused by missense mutations in me
104 ain humans diagnosed with autosomal dominant retinitis pigmentosa, causes toxicity through forming a
106 t use, to our knowledge, of human iPSCs with retinitis pigmentosa-causing mutations to look at pathop
108 cens (RPA) is an autosomal recessive form of retinitis pigmentosa characterized by white dotlike depo
110 omitant loss of retinal function that mimics retinitis pigmentosa due to mutations in the CRB1 gene.
112 tified homozygous REEP6-E75K mutation in two retinitis pigmentosa families of different ethnicities.
113 etinal degeneration in XLRP.Mutations in the Retinitis Pigmentosa GTPase Regulator (RPGR) cause retin
120 the retinal disease due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene in hum
121 ve disease-causing mutations in the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene or the
122 initis pigmentosa caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene, which
125 th retinitis pigmentosa (RP) associated with retinitis pigmentosa GTPase regulator gene (RPGR) mutati
126 addition, SPATA7 directly interacts with the retinitis pigmentosa GTPase regulator interacting protei
130 y leading to decreased expression of FTO and retinitis pigmentosa GTPase regulator-interacting protei
133 e limited visual perception to patients with retinitis pigmentosa, however loss of retinal ganglion c
134 g with a consanguineous family with isolated retinitis pigmentosa identified a missense mutation in B
135 horoidal neovascularization in 2.3% of eyes; retinitis pigmentosa in 1.9% of eyes; severe cough in 1.
136 PF8, and PRPF31) cause nonsyndromic dominant retinitis pigmentosa in humans, an inherited retinal deg
138 cluding age-related macular degeneration and retinitis pigmentosa, in which oxidative stress is thoug
146 Rod-cone dystrophy (RCD), also known as retinitis pigmentosa, is a progressive inherited retinal
147 hat ABCA4 mutations may be associated with a retinitis pigmentosa-like phenotype often as a consequen
148 interact and functionally cooperate and how retinitis pigmentosa-linked Brr2 mutations interfere wit
150 tained families with a clinical diagnosis of retinitis pigmentosa, macular dystrophy, and/or pattern
152 all-trans-retinal from the retina, and in a retinitis pigmentosa mouse model with impaired retinal p
153 d CRB1 and CRB2 gene therapy vectors in Crb1-retinitis pigmentosa mouse models at mid-stage disease.
154 Secondary VPT (n = 67) occurred in eyes with retinitis pigmentosa (n = 15, 22%), pars planitis (n = 1
155 and neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP), in mammalian oocytes using
158 deficiency is linked to human diseases like retinitis pigmentosa or myeloid neoplasia, but its genom
159 specific visual cortical gray matter loss in Retinitis Pigmentosa patients associated with their visu
160 is likely the cause of phenotype observed in retinitis pigmentosa patients carrying T17M mutation.
164 whole brain gray matter volume changes in 27 Retinitis Pigmentosa patients with partially preserved v
165 d deletion of codon 153 (K153Delta) leads to retinitis pigmentosa, pattern dystrophy, and fundus flav
166 is a rare disorder characterized by obesity, retinitis pigmentosa, polydactyly, mental retardation an
170 apy in these large animal models of X-linked retinitis pigmentosa provides a path for translation to
172 Vision impairments and blindness caused by retinitis pigmentosa result from severe neurodegeneratio
178 ness in a number of retinal diseases such as retinitis pigmentosa (RP) and atrophic age-related macul
179 ncurable blinding retinal diseases including retinitis pigmentosa (RP) and atrophic age-related macul
180 d and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hea
182 generation and clinical phenotypes including retinitis pigmentosa (RP) and congenital stationary nigh
183 rials for the inherited degenerative disease retinitis pigmentosa (RP) and for dry age-related macula
184 For ill-defined reasons, CS degenerate in retinitis pigmentosa (RP) and in the transitional zone (
185 Inherited retinal degenerations, including retinitis pigmentosa (RP) and Leber congenital amaurosis
186 d to various retinal degenerations including retinitis pigmentosa (RP) and macular/pattern dystrophy
189 reatments for cystoid macular edema (CME) in retinitis pigmentosa (RP) are not always effective, may
190 eber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases
191 oherence tomography (SDOCT) in patients with retinitis pigmentosa (RP) associated with retinitis pigm
216 ted for some RP cases.SIGNIFICANCE STATEMENT Retinitis pigmentosa (RP) is an inherited, degenerative
217 associated with the various genetic forms of retinitis pigmentosa (RP) is currently untreatable and l
218 ird-most common cause of autosomal recessive retinitis pigmentosa (RP) is due to defective cGMP phosp
219 on of photopsias (spontaneous phosphenes) in retinitis pigmentosa (RP) is related to the severity of
224 some vision to patients blind as a result of retinitis pigmentosa (RP) or outer retinal degeneration.
225 t, we assess the natural progression rate of retinitis pigmentosa (RP) over an average of three years
226 analyze the genetic and clinical findings in retinitis pigmentosa (RP) patients of Ashkenazi Jewish (
227 cing (NGS) based molecular diagnosis for 105 Retinitis Pigmentosa (RP) patients randomly selected fro
229 vel the molecular pathogenesis of an unusual retinitis pigmentosa (RP) phenotype observed in a Turkis
231 e limited published data on the phenotype of retinitis pigmentosa (RP) related to CNGB1 variants.
234 ween previously-reported GARP2 mutations and retinitis pigmentosa (RP) using Scottish RP patients and
235 cone dystrophy (CD) and eight patients with retinitis pigmentosa (RP) were recruited from the Southw
236 associated retinal degeneration (RD) or with retinitis pigmentosa (RP) were studied with retina-track
237 USH2A mutations are an important cause of retinitis pigmentosa (RP) with or without congenital sen
238 imately 36 000 cases of simplex and familial retinitis pigmentosa (RP) worldwide are caused by a loss
239 und this domain in IMPDH1 which give rise to retinitis pigmentosa (RP) would compromise regulation.
241 the rhodopsin gene have been associated with retinitis pigmentosa (RP), a family of inherited visual
244 cells, are the most common cause of dominant retinitis pigmentosa (RP), a type of inherited blindness
245 viously reported to cause autosomal dominant retinitis pigmentosa (RP), and described their detailed
246 mans, such as Leber congenital amaurosis and retinitis pigmentosa (RP), are attributed to either homo
247 itary retinal degenerative diseases, such as retinitis pigmentosa (RP), are characterized by the prog
248 unrelated families with autosomal recessive retinitis pigmentosa (RP), but without extraocular invol
250 indings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or c
251 individuals, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insuf
252 y photoreceptor cells and cause nonsyndromic retinitis pigmentosa (RP), raising the issue of why cert
255 composed of IRD two with autosomal dominant retinitis pigmentosa (RP), two with autosomal recessive
271 cept for treatment of this form of recessive retinitis pigmentosa (RP); however, the beneficial effec
273 ere autosomal recessive retinal dystrophies (retinitis pigmentosa RP64 and cone-rod dystrophy CORD16)
274 risons with published studies of ungenotyped retinitis pigmentosa showed that the RPE65-LCA patients
275 Ciliary neurotrophic factor for late-stage retinitis pigmentosa study 3 (CNTF3; n = 65) and ciliary
276 ciliary neurotrophic factor for early-stage retinitis pigmentosa study 4 (CNTF4; n = 68) were multic
279 higher photosynthetic organisms, as well as Retinitis Pigmentosa Type 2-Clathrin Light Chain, a memb
280 tegies to optimize outcomes in patients with retinitis pigmentosa undergoing retinal prosthesis impla
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.
284 h history of nonpenetrant autosomal dominant retinitis pigmentosa were selected; all underwent full o
286 he RPGR gene cause a common form of X-linked retinitis pigmentosa, which often results in severe loss
287 rhodopsin disrupt a similar signal and cause retinitis pigmentosa, while Bardet-Biedl syndrome, prima
289 tor (RPGR) gene account for >70% of X-linked retinitis pigmentosa (XLRP) and 15-20% of all inherited
290 tations in the human RP2 gene cause X-linked retinitis pigmentosa (XLRP) and cone-rod dystrophy (XL-C
292 ges of disease in a canine model of X-linked retinitis pigmentosa (XLRP) caused by a mutation in the
295 in the pathogenesis associated with X-linked retinitis pigmentosa (XLRP) resulting from mutations in
296 e are associated with 10% to 15% of X-linked retinitis pigmentosa (XLRP), a debilitating disorder cha
WebLSDに未収録の専門用語（用法）は "新規対訳" から投稿できます。