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1 AUC in the detection of large drusen (0.94), pigmentary abnormalities (0.93), and late AMD (0.97).
2 cuity loss included foveal scarring (44.3%), pigmentary abnormalities (27.9%), and foveal GA (11.5%).
3 0.742 vs. 0.696; kappa 0.601 vs. 0.517) and pigmentary abnormalities (accuracy 0.890 vs. 0.813; kapp
5 ence of structural AMD biomarkers, including pigmentary abnormalities (PAs), pigment epithelium detac
7 5% confidence interval (CI): 1.02, 1.14) and pigmentary abnormalities (RR = 1.09, 95% CI: 1.04, 1.14)
8 er, being a current smoker, as well as focal pigmentary abnormalities and large drusen (>125 mum) wer
10 at CFH may play a role in the development of pigmentary abnormalities and may modify the progression
11 lesions of larger drusen (>125 microns) and pigmentary abnormalities and the incidence of any ARM we
12 in the nasal and inferior quadrants, whereas pigmentary abnormalities associated with age-related mac
14 of age; vessel attenuation, RPE atrophy and pigmentary abnormalities at 14 months, which progressed
15 We report a case study on models for retinal pigmentary abnormalities in the Beaver Dam Eye Study.
16 amination of the 11 eyes revealed drusen and pigmentary abnormalities in the central macula and no ev
18 hology seems to lie with dry eye disease and pigmentary abnormalities of various ocular structures, e
20 sence of any size drusen and the presence of pigmentary abnormalities or by the presence of large-siz
22 medium drusen (>/= 63-<125 mum), but without pigmentary abnormalities thought to be related to AMD, s
23 in eyes with both medium drusen and retinal pigmentary abnormalities was 4-fold higher than that in
24 l, large drusen, soft indistinct drusen, and pigmentary abnormalities were more likely to develop in
25 the superior or temporal quadrants, whereas pigmentary abnormalities were most likely to occur in th
26 n from medium size drusen to large drusen or pigmentary abnormalities within the central 1500-microm
27 ng individual AMD risk factors (drusen size, pigmentary abnormalities) for each eye and then calculat
28 ermediate drusen, extensive small drusen, or pigmentary abnormalities), or group 3 (large drusen or e
29 was related to ARM (specifically to retinal pigmentary abnormalities), whereas total carbohydrate in
31 macular regions (extramacular drusen score), pigmentary abnormalities, and disease staging were also
33 ardenburg syndrome, which involves deafness, pigmentary abnormalities, and facial characteristics inc
35 The relationships of retinal drusen, retinal pigmentary abnormalities, and macular degeneration to ag
36 fam(EKO) mice exhibited severe HF dystrophy, pigmentary abnormalities, and telogen-like condensed der
37 ome typically manifests with congenital iris pigmentary abnormalities, but careful inspection can rev
38 gment dystrophy and in tvrm5 mice, including pigmentary abnormalities, focal thickening and elevated
39 n in the diet were related to lower odds for pigmentary abnormalities, one sign of early ARM (odds ra
41 acular degeneration, any type of drusen with pigmentary abnormalities, or soft indistinct drusen with
42 ted high-risk features including presence of pigmentary abnormalities, reticular pseudodrusen (RPD),
52 d be differentiated: type 1 with mild, focal pigmentary abnormalities; type 2 characterized by multif
53 tinct/reticular drusen or coexisting retinal pigmentary abnormality and soft distinct drusen in eyes
55 difficult include the presence of drusen and pigmentary alteration, a fundus in which choroidal vesse
56 rately capturing erythema, inflammation, and pigmentary alterations in skin of color, specific lighti
62 icate that MC1R protects by a combination of pigmentary and non-pigmentary effects in vivo and that w
63 and potency of the response to alpha-MSH in pigmentary and nonpigmentary cells suggest this to be a
65 cluding radiation protection, UV-protection, pigmentary and structural color productions, and thermor
66 the intricate biophotonic interplay between pigmentary and structural coloration elements tightly co
67 global) to determine how transitions between pigmentary and structural colours influence speciation d
69 a diagnosis that denotes the coexistence of pigmentary and vascular birthmarks of specific types, ac
70 higher risk of failure for pseudoexfoliative/pigmentary, angle closure, uveitic, and normal tension s
71 haracterized by deafness in association with pigmentary anomalies and various defects of neural crest
72 10 alleles in mice exhibit aganglionosis and pigmentary anomalies typical of a subset of HSCR patient
74 lanocyte stimulating hormone (alpha-MSH) has pigmentary, anti-inflammatory, antipyretic, and general
77 proteins as the tumors become amelanotic, a pigmentary change associated with ongoing malignant prog
80 the presence of nGA included the presence of pigmentary changes (odds ratio [OR], 16.84; 95% confiden
83 fundus photography these included localized pigmentary changes and on OCT imaging an ellipsoid zone
84 are associated with a more severe degree of pigmentary changes and retinal disruption than those loc
89 nts with normal fundus, TLR, or asymptomatic pigmentary changes had a continuous ellipsoid zone on OC
92 greatly enhance our appreciation of dynamic pigmentary changes in human or animal skin over time and
93 vision loss who presented bilateral retinal pigmentary changes in posterior pole and midperiphery.
95 f which one was possibly related to RGX-314: pigmentary changes in the macula with severe vision redu
98 e analysis, it proposes a hypothesis for the pigmentary changes in this rare autosomal recessive EBS
99 ndings consistent with ochronosis, including pigmentary changes of the ear and mild degenerative dise
100 ts suggest that PG mediate post-inflammatory pigmentary changes through modulation of melanocyte dend
102 the blind spot), ocular findings (paucity of pigmentary changes with no sign of vitreous inflammation
103 , 68% had drusen of 125 mum or more, 36% had pigmentary changes, 10% had both drusen of 125 mum or mo
105 , 10% had both drusen of 125 mum or more and pigmentary changes, and 17% had only RPD in their fellow
106 fibrotic changes, 48 eyes (11.5%) with mild pigmentary changes, and 43 eyes (10.3%) showing a vitell
107 HFs, decreased anagen HF proliferation, hair pigmentary changes, and decreased hair width and length.
110 es, reticular pseudodrusen, senile reticular pigmentary changes, cobblestone degeneration, and FAF ab
111 dus initially showed a pallid optic disc and pigmentary changes, developing thereafter retinal lacuna
112 showed dilated and tortuous retinal vessels, pigmentary changes, incomplete vascularization of periph
113 s also were graded for AMD features (drusen, pigmentary changes, late AMD) to generate person-based A
114 ups based on fundus characteristics (drusen, pigmentary changes, late AMD, and subretinal drusenoid d
115 ith selective Ranbp2 ablation in RPE develop pigmentary changes, syncytia, hypoplasia, age-dependent
124 unduscopic examination revealed perivascular pigmentary clumping and atrophic changes radiating from
126 l]) melanocytosis is a congenital periocular pigmentary condition that can lead to the development of
127 Zebrafish morphants for either gene develop pigmentary defects and severe craniofacial abnormalities
128 amptodactyly, and other digital deformities; pigmentary defects on the face and scalp; and multiple f
129 cription factor SOX10 is associated with the pigmentary deficiencies of Waardenburg syndrome (WS) and
130 terised by distinct bands of circumferential pigmentary degeneration in the peripheral retina and dev
133 ral retina, accompanied by bone spicule-like pigmentary deposits and a reduced or absent electroretin
134 scribe the development of diffuse preretinal pigmentary deposits in 12 eyes after surgery for complic
135 -1), an autosomal recessive disorder causing pigmentary dilution, visual disturbances, bleeding diath
138 or GNA11 lead to a spectrum of vascular and pigmentary diseases including Sturge-Weber syndrome, in
139 at interest pharmaceutically (as therapy for pigmentary diseases) and cosmeceutically (e.g., to desig
140 their functions are associated with various pigmentary diseases; however, many remain to be identifi
141 stigated the etiology of X-linked reticulate pigmentary disorder (XLPDR), a primary immunodeficiency
145 A total of 50% of respondents had at >=1 pigmentary disorder: solar lentigo (13,192 [27.5%]), axi
146 wounds (16 [18.4%]), neoplasms (10 [11.5%]), pigmentary disorders (10 [11.5%]), signs of torture/viol
147 ow the development of novel therapeutics for pigmentary disorders and bring new insights into the imm
148 rldwide survey provides important data about pigmentary disorders and their strong impact on affected
153 lerosis and neurofibromatosis type 1 are two pigmentary disorders that have had many changes in their
154 essed the worldwide prevalence and impact of pigmentary disorders through an online survey of 48,000
155 cations on the management of photoaggravated pigmentary disorders, the proper use of sunscreens, and
160 in order to further study their function in pigmentary disorders; however, due to the lack of specif
161 Patients with open-angle glaucoma including pigmentary dispersion syndrome and pseudoexfoliation syn
163 were composed of IOL decentration and tilt, pigmentary dispersion within the anterior segment and on
164 were composed of IOL decentration and tilt, pigmentary dispersion within the anterior segment and on
165 s, iris thinning and atrophy, synechiae, and pigmentary dispersion within the trabecular meshwork.
166 residual signs, adverse reactions, including pigmentary disturbance and skin atrophy, complications s
167 ypically seen in adults, 4 patients had mild pigmentary disturbance or white dots along the arcades,
168 expression levels and predominantly involved pigmentary disturbances of the abdomen, hindpaws, and ta
169 clude the grossly visible macular drusen and pigmentary disturbances typical of age-related macular d
170 ors) with grossly visible macular drusen and pigmentary disturbances were either wholemounted for pho
171 thway and reveal how coat-color patterns and pigmentary diversity have been shaped by recent selectio
172 ocortin 1 receptor (Mc1r) gene contribute to pigmentary diversity in natural populations of fish, bir
173 tects by a combination of pigmentary and non-pigmentary effects in vivo and that when MC1R function i
174 e that a functional Mc1r is required for the pigmentary effects of Agouti, and suggest that Agouti pr
175 In particular, it remains unclear whether pigmentary effects of the MC1R can account for all of th
180 for failure were pseudoexfoliation glaucoma/pigmentary glaucoma (HR = 1.641, P = .004), primary angl
181 ma suspects, ocular hypertension (OR, 1.55), pigmentary glaucoma (OR, 1.56), and pseudoexfoliative gl
188 ucoma (POAG), normal-tension glaucoma (NTG), pigmentary glaucoma (PIGM), and pseudoexfoliation glauco
191 eyes of 10 patients who developed secondary pigmentary glaucoma after foldable IOLs implantation in
193 he long-term outcomes of eyes with secondary pigmentary glaucoma associated with the implantation of
199 a bleb-related infection to be diagnoses of pigmentary glaucoma or juvenile glaucoma, history of ble
200 itiates and/or amplifies the pathogenesis of pigmentary glaucoma requires further investigation.
201 f IL-18 participation in the pathogenesis of pigmentary glaucoma should provide approaches for develo
203 e pathophysiology of angle-closure glaucoma, pigmentary glaucoma, and a variety of other anterior seg
204 ary glaucoma other than pseudoexfoliative or pigmentary glaucoma, angle closure, previous incisional
205 e precedes the onset of clinical evidence of pigmentary glaucoma, implying a pathogenic role of infla
206 the DBA/2J mouse as an animal model of human pigmentary glaucoma, we demonstrated for the first time
207 th primary open-angle, pseudoexfoliation, or pigmentary glaucoma, who failed a first trabeculectomy a
217 cts including linear or whorled atrophic and pigmentary lesions, striated hyperkeratosis, coarse lust
221 estations of dominant cerebellar ataxia with pigmentary macular dystrophy, a review of the pathogenes
223 tients because of bilateral media opacities, pigmentary maculopathy was present in 32 of 65 patients
225 varian failure; short stature; hearing loss; pigmentary maculopathy; and renal tubular dysfunction.
227 C1R variants, and suggest an alternative non-pigmentary mechanism whereby MC1R variants could modify
231 e the way toward elucidating the etiology of pigmentary mosaicism and highlight the role of RHOA in h
232 the most frequent abnormalities being focal pigmentary mottling and chorioretinal atrophy or scarrin
233 y induced by trauma, as well as mild diffuse pigmentary mottling on the trunk and proximal limbs.
234 that the same variants can cause either the pigmentary or vascular phenotypes alone, and drive melan
235 halopathy with axonal spheroids" (HDLS) and "pigmentary orthochromatic leukodystrophy" (POLD), disord
236 oganoid is a mouse coat-color mutation whose pigmentary phenotype and genetic interactions resemble t
237 s are of key significance in determining the pigmentary phenotype and response to ultraviolet radiati
238 onserved signaling gradient into a conserved pigmentary phenotype has been radically altered in the c
243 hat different mechanisms are involved in the pigmentary responses of the skin to different types of U
245 utosomal recessive disorder characterized by pigmentary retinal degeneration, sensorineural hearing l
247 editary retinal dystrophy), 362.74 + H35.52 (pigmentary retinal dystrophy), 362.76 + H35.54 (dystroph
248 d by multiple clinical features that include pigmentary retinal dystrophy, polydactyly, obesity, deve
250 lcifications; (3) macular scarring and focal pigmentary retinal mottling; (4) congenital contractures
251 phthalmoparesis, mitochondrial myopathy, and pigmentary retinopathy also had autoimmune polyglandular
253 egia at clinical presentation, hearing loss, pigmentary retinopathy and extrapyramidal features.
254 essive diseases characterized by progressive pigmentary retinopathy and sensorineural hearing loss.
255 alcium deposits, cutaneous photosensitivity, pigmentary retinopathy and/or cataracts, and sensorineur
256 (SD-OCT) findings of a patient who developed pigmentary retinopathy following high-dose deferoxamine
257 syndrome, Goldman-Favre syndrome and clumped pigmentary retinopathy in humans, allelic disorders caus
258 and serous retinal detachments, a unilateral pigmentary retinopathy mimicking retinitis pigmentosa, n
261 yndrome, Goldman-Favre syndrome, and clumped pigmentary retinopathy that is also associated with an a
263 report a case of bilateral nanophthalmos and pigmentary retinopathy with angle closure glaucoma and o
265 abnormalities, such as cleft lip and palate, pigmentary retinopathy, and multiple tubular stenoses (e
266 tic neuropathy, ophthalmoplegia with ptosis, pigmentary retinopathy, and retrochiasmal visual loss.
267 alcium deposits; cutaneous photosensitivity; pigmentary retinopathy, cataracts, or both; and sensorin
268 cessive Bardet-Biedl syndrome (BBS; obesity, pigmentary retinopathy, polydactyly, hypogonadism, renal
269 ome (BBS) which is characterized by obesity, pigmentary retinopathy, polydactyly, renal abnormalities
270 sorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations
271 sorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations
272 recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations
273 ted neurodegeneration (PKAN), which leads to pigmentary retinopathy, progressive dystonia and other a
277 odulation as a response to therapies against pigmentary skin disorders, skin aging, as well as skin c
278 and expression level of ATM correlated with pigmentary status in canities-affected hair follicles.
281 on due to PAX3 mutations causes the auditory-pigmentary symptoms in at least some individuals with WS
282 m by which PAX3 mutations cause the auditory-pigmentary symptoms in WS1/WS3 remains to be explained.
283 help to identify additional unknown deafness-pigmentary syndrome mutations in human kindred and permi
286 en, we examined the associations between (i) pigmentary traits and (ii) reactions to sun exposure and
287 skin, but the relative contribution to these pigmentary traits in heterozygotes, homozygotes and comp
289 and eventual depletion of hair follicle (HF) pigmentary unit (HFPU) melanocytes and their local proge
291 ase activity, and HMB45 expression in the HF pigmentary unit and altered HF melanocyte morphology in
292 chanisms of the remodeling of the follicular pigmentary unit during HF anagen-catagen-telogen transit
294 of precise interactions in the hair follicle pigmentary unit, e.g., between follicular melanocytes, k
296 sm that can explain several aspects of human pigmentary variation and show how polymorphism of essent
300 The only gene known to exert an effect on pigmentary within the normal population is the melanocor