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1 children and adults with Leber's congenital amaurosis.
2 e site in two siblings with Leber congenital amaurosis.
3 tential therapies for human Leber congenital amaurosis.
4 out mice and in humans with Leber congenital amaurosis.
5 g disease of infancy called Leber congenital amaurosis.
6 utations in RPGRIP1 cause Leber's congenital amaurosis.
7 a phenotype that resembles Leber congenital amaurosis.
8 Mutations in RPGRIP1 cause Leber congenital amaurosis.
9 ng retinitis pigmentosa and Leber congenital amaurosis.
10 e blinding disease called Leber's congenital amaurosis.
11 s, retinitis pigmentosa and Leber congenital amaurosis.
12 le those in RPGRIP1 lead to Leber congenital amaurosis.
13 d to the retinal dystrophy, Leber congenital amaurosis.
14 s carrying the diagnosis of Leber congenital amaurosis.
15 inal degenerations known as Leber congenital amaurosis.
16 the diagnostic category of Leber congenital amaurosis.
17 ss of enzymatic function in Leber congenital amaurosis.
18 dystrophy and with de novo Leber congenital amaurosis.
19 cken is a model for human Leber's congenital amaurosis.
20 degenerations, including Leber's congenital amaurosis.
21 nt retinitis pigmentosa and Leber congenital amaurosis.
22 described in 1 patient with Leber congenital amaurosis.
23 generation in some forms of Leber congenital amaurosis.
24 6) and recessive forms of Leber's congenital amaurosis.
25 tinal dystrophy, similar to Leber congenital amaurosis.
26 retinitis pigmentosa and Leber's congenital amaurosis.
30 These conditions range from Leber congenital amaurosis (a severe cone and rod degeneration of childho
31 P1 have been shown to cause Leber congenital amaurosis, a group of retinal dystrophies that represent
32 Mutations in RPE65 cause Leber's congenital amaurosis, a progressive retinal degenerative disease th
33 Mutations in AIPL1 cause Leber congenital amaurosis, a severe early-onset retinopathy that leads t
34 1 gene were associated with Leber congenital amaurosis, a severe retinal degenerative disease that ca
36 Retinal gene therapy for Leber's congenital amaurosis, an autosomal recessive childhood blindness, h
37 ons within the gene lead to Leber Congenital Amaurosis and autosomal recessive retinitis pigmentosa i
39 rum of TULP1 mutations from Leber congenital amaurosis and early-onset retinitis pigmentosa to cone-d
46 s in AIPL1 may present with Leber congenital amaurosis and residual ERGs characterized by slow insens
47 nditions in humans, such as Leber congenital amaurosis and retinitis pigmentosa (RP), are attributed
49 ents (aged >/=6 years) with Leber congenital amaurosis and RPE65 or LRAT mutations at McGill Universi
50 mentosa collectively termed Leber congenital amaurosis and segregates naturally in the collie breed o
51 rable models for studies of Leber congenital amaurosis and that the destructive cone opsin mistraffic
52 ential therapies for NMNAT1-Leber congenital amaurosis, and conducting in situ studies on NMNAT1 func
53 tronic mutations that cause Leber congenital amaurosis, and we speculate that reduced dosage of corre
55 as retinitis pigmentosa and Leber congenital amaurosis, are a leading cause of untreatable blindness
56 ant retinitis pigmentosa, Leber's congenital amaurosis, autosomal dominant cone degeneration, central
57 ions in that region causing Leber congenital amaurosis blindness disrupt activation of the cyclase by
58 on in humans diagnosed with Leber congenital amaurosis caused by mutations in the RPE65 gene, an inhe
60 attributed previously to Leber's congenital amaurosis, central areolar choroidal dystrophy and domin
61 5(-/-) mouse, a model for Leber's congenital amaurosis, cones degenerate much more rapidly than rods.
62 tis pigmentosa, or dominant congenital Leber amaurosis (early-onset retinitis pigmentosa), and we ide
63 Mutations associated with Leber congenital amaurosis/early-onset blindness cause partial to total l
64 unrelated patients who had Leber congenital amaurosis for mutations in RPGRIP1 and found recessive m
66 s in the vertebrobasilar territory; atypical amaurosis fugax and limb-shaking as TNAs in the carotid
68 t with stroke, transient ischemic attack, or amaurosis fugax had occurred in the neurovascular territ
69 had a stroke, transient ischemic attack, or amaurosis fugax in the 180 days before enrollment) and w
70 ateral stroke, transient ischaemic attack or amaurosis fugax) as potential risks for CHS (all p</=0.1
71 ymptoms (stroke, transient ischemic attacks, amaurosis fugax) than in asymptomatic patients, and expr
72 vents (transient ischemic attack, stroke, or amaurosis fugax), due for carotid endarterectomy, were p
73 vents (transient ischemic attack, stroke, or amaurosis fugax), due for carotid endarterectomy, were p
74 , acute onset of diffuse neurologic deficit, amaurosis fugax, acute renal failure, gut ischemia, live
75 tic or had had a transient ischaemic attack, amaurosis fugax, or a minor stroke were eligible for CRE
77 rs) with RPE65-associated Leber's congenital amaurosis given one subretinal injection of adeno-associ
78 mouse, used as a model for Leber congenital amaurosis, has slow rod degeneration and rapid cone loss
80 ials for the treatment of Leber's congenital amaurosis have provided evidence for successful in-vivo
81 -deficient mice, a model of Leber congenital amaurosis, have no rod photopigment and severely impaire
82 1 bp] mutation) and simplex Leber congenital amaurosis in two families (E168 [delta2 bp], G217 [delta
83 ull allele is affected with Leber congenital amaurosis, it was surprising that her father, who had no
84 Rpe65(-/-) mouse model of Lebers congenital amaurosis (LCA) and in a Cpfl1 mouse with Pde6c defect m
87 on of Crx that causes human Leber congenital amaurosis (LCA) and resides within the NLS resulted in t
88 s supporting a diagnosis of Leber congential amaurosis (LCA) as an infant, her level of acuity and fu
89 res for a clinical trial of Leber congenital amaurosis (LCA) associated with mutations in the GUCY2D
91 is responsible for >10% of Leber congenital amaurosis (LCA) cases worldwide; LCA is characterized by
93 subjects and patients with Leber congenital amaurosis (LCA) caused by mutations in GUCY2D, the gene
96 in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish population and to describ
108 evastating blinding disease Leber congenital amaurosis (LCA) to Senior-Loken syndrome, Joubert syndro
109 s typically associated with Leber congenital amaurosis (LCA) type I, with a number of patients retain
110 etinitis pigmentosa (RP) or Leber congenital amaurosis (LCA) using melting curve analysis and DNA seq
111 -deficient mice [a model of Leber congenital amaurosis (LCA) with rapid cone loss] and cone photorece
112 36 patients affected with Leber's congenital amaurosis (LCA), 62 with autosomal recessive retinitis p
113 (Aipl1) are associated with Leber congenital amaurosis (LCA), a childhood blinding disease with early
114 morphic mutations result in Leber congenital amaurosis (LCA), a form of early-onset retinal dystrophy
115 l manifestations, including Leber congenital amaurosis (LCA), a hereditary cause of blindness due to
117 gene coding for AIPL1 cause Leber congenital amaurosis (LCA), a severe form of childhood blindness.
119 retinal synthesis and cause Leber congenital amaurosis (LCA), a severe hereditary blindness occurring
120 nsferase (LRAT) genes cause Leber congenital amaurosis (LCA), a severe visual impairment in humans.
121 been found in patients with Leber congenital amaurosis (LCA), a severe, early-onset form of retinal d
122 nd 11-cis-retinal and cause Leber congenital amaurosis (LCA), a severe, early-onset retinal dystrophy
123 as retinitis pigmentosa and Leber congenital amaurosis (LCA), affects approximately 1/3000 of the pop
126 -deficient mouse models for Leber Congenital Amaurosis (LCA), but exogenous supplementation of the na
127 tinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), comprise a group of disorders showing h
128 rm of blindness at birth, Leber's congenital amaurosis (LCA), is inherited in an autosomal recessive
129 GRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pigmentosa (RP) and
130 ed with autosomal recessive Leber congenital amaurosis (LCA), the most severe form of inherited retin
131 retinal recycling and cause Leber congenital amaurosis (LCA), the most severe retinal dystrophy in ea
133 ly disrupted in humans with Leber congenital amaurosis (LCA), which is caused by mutations in RPE65,
153 retinitis pigmentosa, and Leber's congenital amaurosis matched well with data from previous studies.
155 in retinitis pigmentosa and Leber congenital amaurosis patients did not reveal any obvious disease-ca
157 W708R and I734T, linked to Leber congenital amaurosis prevented binding of both GCAP1-GFP and GCAP2-
158 lated macular degeneration, Leber congenital amaurosis, retinitis pigmentosa, and cone-rod dystrophy.
159 dness in animal models of Leber's congenital amaurosis, several groups proceeded with adeno-associate
160 d histories consistent with Leber congenital amaurosis (severely reduced vision, poorly responsive pu
162 gous state in patients with Leber congenital amaurosis than predicted based on its heterozygosity fre
163 na of two genetic models of Leber congenital amaurosis, the Crb1(rd8/rd8) and Gucy2e(-/-) mouse.
164 (-/-) mice, models of human Leber congenital amaurosis, the retinoid cycle is disrupted and 11-cis-re
165 eterogeneous and present as Leber Congenital Amaurosis, the severest form of early-onset retinal dyst
166 eles of CRX appear to cause Leber congenital amaurosis through a recessive or multigenic mechanism.
167 sis of this animal model of Leber congenital amaurosis type 1 (LCA1), a disease that results from nul
168 Mutations in GUCY2D cause Leber congenital amaurosis type 1 (LCA1), an autosomal recessive human re
169 d to the congenital disease Leber congenital amaurosis Type 2 (LCA2) characterized by the early onset
170 p of 5 patients affected by Leber congenital amaurosis type 2 (LCA2) treated with a single unilateral
171 ombined Immunodeficiency, Leber's Congenital Amaurosis Type 2 and in cancer immunotherapy trials for
172 lize PDE6 and thereby cause Leber congenital amaurosis type 4 (LCA4), a severe form of childhood blin
173 epithelium of patients with Leber congenital amaurosis was noted as one of the most important clinica
174 viously was implicated in Leber's congenital amaurosis, was screened for mutations within this family
175 rly-onset retinal dystrophy Leber congenital amaurosis, whereas RDH11 has not been associated with hu
177 reatment of mouse models of Leber congenital amaurosis with 9-cis-BC and 9-cis-retinyl-acetate, a wel
178 e mammalian model of NMNAT1-Leber congenital amaurosis would assist in determining the mechanisms thr
179 for retinitis pigmentosa, Leber's congenital amaurosis, X-linked retinoschisis, Best's disease, Starg
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