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1 Mutations in RPGRIP1 cause Leber congenital amaurosis.
2 diseases including retinitis pigmentosa and Leber congenital amaurosis.
3 the eye disorders, retinitis pigmentosa and Leber congenital amaurosis.
4 l phenotypes, while those in RPGRIP1 lead to Leber congenital amaurosis.
5 were found to lead to the retinal dystrophy, Leber congenital amaurosis.
6 nsecutive patients carrying the diagnosis of Leber congenital amaurosis.
7 cessive human retinal degenerations known as Leber congenital amaurosis.
8 ssociated with loss of enzymatic function in Leber congenital amaurosis.
9 otypes, mainly in the diagnostic category of Leber congenital amaurosis.
10 dominant cone-rod dystrophy and with de novo Leber congenital amaurosis.
11 autosomal dominant retinitis pigmentosa and Leber congenital amaurosis.
12 variant has been described in 1 patient with Leber congenital amaurosis.
13 cause retinal degeneration in some forms of Leber congenital amaurosis.
14 nfantile onset retinal dystrophy, similar to Leber congenital amaurosis.
15 nogram responses, a phenotype that resembles Leber congenital amaurosis.
16 xon 2 donor splice site in two siblings with Leber congenital amaurosis.
17 mechanisms and potential therapies for human Leber congenital amaurosis.
18 in rpe65-/- knockout mice and in humans with Leber congenital amaurosis.
19 e cause a blinding disease of infancy called Leber congenital amaurosis.
23 utations in RPGRIP1 have been shown to cause Leber congenital amaurosis, a group of retinal dystrophi
25 ions in the NMNAT1 gene were associated with Leber congenital amaurosis, a severe retinal degenerativ
27 However, mutations within the gene lead to Leber Congenital Amaurosis and autosomal recessive retin
29 CRB1) gene is mutated in autosomal recessive Leber congenital amaurosis and early-onset retinitis pig
30 the disease spectrum of TULP1 mutations from Leber congenital amaurosis and early-onset retinitis pig
34 amilies with retinal degeneration, including Leber congenital amaurosis and Oliver McFarlane syndrome
35 y by 30-40% in the Rpe65(-/-) mouse model of Leber congenital amaurosis and reduced the number of TUN
36 nts with mutations in AIPL1 may present with Leber congenital amaurosis and residual ERGs characteriz
37 rious blinding conditions in humans, such as Leber congenital amaurosis and retinitis pigmentosa (RP)
38 mprove visual function in some patients with Leber congenital amaurosis and RPE65 and LRAT mutations.
39 we enrolled patients (aged >/=6 years) with Leber congenital amaurosis and RPE65 or LRAT mutations a
40 of retinitis pigmentosa collectively termed Leber congenital amaurosis and segregates naturally in t
41 /- mice are comparable models for studies of Leber congenital amaurosis and that the destructive cone
42 s, evaluating potential therapies for NMNAT1-Leber congenital amaurosis, and conducting in situ studi
43 cent of CEP290 intronic mutations that cause Leber congenital amaurosis, and we speculate that reduce
45 e diseases, such as retinitis pigmentosa and Leber congenital amaurosis, are a leading cause of untre
46 RetGC1, and mutations in that region causing Leber congenital amaurosis blindness disrupt activation
47 n recovering vision in humans diagnosed with Leber congenital amaurosis caused by mutations in the RP
50 We surveyed 57 unrelated patients who had Leber congenital amaurosis for mutations in RPGRIP1 and
54 mily (E168 [delta1 bp] mutation) and simplex Leber congenital amaurosis in two families (E168 [delta2
55 zygous for this null allele is affected with Leber congenital amaurosis, it was surprising that her f
58 but a R90W mutation of Crx that causes human Leber congenital amaurosis (LCA) and resides within the
59 ine outcome measures for a clinical trial of Leber congenital amaurosis (LCA) associated with mutatio
61 homolog 1 (CRB1) is responsible for >10% of Leber congenital amaurosis (LCA) cases worldwide; LCA is
62 method in healthy subjects and patients with Leber congenital amaurosis (LCA) caused by mutations in
66 genetic defects in the LCA5 gene underlying Leber congenital amaurosis (LCA) in the Spanish populati
77 anging from the devastating blinding disease Leber congenital amaurosis (LCA) to Senior-Loken syndrom
78 l capacity than is typically associated with Leber congenital amaurosis (LCA) type I, with a number o
79 6 patients with retinitis pigmentosa (RP) or Leber congenital amaurosis (LCA) using melting curve ana
80 l isomerase RPE65-deficient mice [a model of Leber congenital amaurosis (LCA) with rapid cone loss] a
81 g protein-like 1 (Aipl1) are associated with Leber congenital amaurosis (LCA), a childhood blinding d
82 mes, whereas hypomorphic mutations result in Leber congenital amaurosis (LCA), a form of early-onset
83 distinct clinical manifestations, including Leber congenital amaurosis (LCA), a hereditary cause of
85 Mutations in the gene coding for AIPL1 cause Leber congenital amaurosis (LCA), a severe form of child
87 ) disrupt 11-cis-retinal synthesis and cause Leber congenital amaurosis (LCA), a severe hereditary bl
88 n:retinol acyltransferase (LRAT) genes cause Leber congenital amaurosis (LCA), a severe visual impair
89 chromophore ligand 11-cis-retinal and cause Leber congenital amaurosis (LCA), a severe, early-onset
90 AIPL1) gene have been found in patients with Leber congenital amaurosis (LCA), a severe, early-onset
91 conditions such as retinitis pigmentosa and Leber congenital amaurosis (LCA), affects approximately
92 by severe childhood onset retinal blindness, Leber congenital amaurosis (LCA), and renal disease.
93 cells included Bardet Biedl syndrome (BBS), Leber congenital amaurosis (LCA), and retinitis pigmento
94 te in chromophore-deficient mouse models for Leber Congenital Amaurosis (LCA), but exogenous suppleme
95 ons, including retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), comprise a group of di
96 ing protein 1 (RPGRIP1) gene cause recessive Leber congenital amaurosis (LCA), juvenile retinitis pig
97 PL1) are associated with autosomal recessive Leber congenital amaurosis (LCA), the most severe form o
98 ) disrupt 11-cis-retinal recycling and cause Leber congenital amaurosis (LCA), the most severe retina
99 refs 3, 4, 5), retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA), which all lead to loss
100 cycle is naturally disrupted in humans with Leber congenital amaurosis (LCA), which is caused by mut
115 ity by 30-40% in a Rpe65(-/-) mouse model of Lebers congenital amaurosis (LCA) and in a Cpfl1 mouse w
116 in young patients with congenital blindness (Leber congenital amaurosis [LCA] or retinitis pigmentosa
119 eening of LPCAT1 in retinitis pigmentosa and Leber congenital amaurosis patients did not reveal any o
121 homology domain, W708R and I734T, linked to Leber congenital amaurosis prevented binding of both GCA
122 ients with age-related macular degeneration, Leber congenital amaurosis, retinitis pigmentosa, and co
123 were siblings, had histories consistent with Leber congenital amaurosis (severely reduced vision, poo
124 quent in a homozygous state in patients with Leber congenital amaurosis than predicted based on its h
125 degenerating retina of two genetic models of Leber congenital amaurosis, the Crb1(rd8/rd8) and Gucy2e
126 at(-/-) and Rpe65(-/-) mice, models of human Leber congenital amaurosis, the retinoid cycle is disrup
127 are clinically heterogeneous and present as Leber Congenital Amaurosis, the severest form of early-o
128 s of function alleles of CRX appear to cause Leber congenital amaurosis through a recessive or multig
129 ort further analysis of this animal model of Leber congenital amaurosis type 1 (LCA1), a disease that
131 tations are linked to the congenital disease Leber congenital amaurosis Type 2 (LCA2) characterized b
132 (3-year) follow-up of 5 patients affected by Leber congenital amaurosis type 2 (LCA2) treated with a
133 hought to destabilize PDE6 and thereby cause Leber congenital amaurosis type 4 (LCA4), a severe form
134 retinal pigment epithelium of patients with Leber congenital amaurosis was noted as one of the most
135 linked to the early-onset retinal dystrophy Leber congenital amaurosis, whereas RDH11 has not been a
136 Therefore, treatment of mouse models of Leber congenital amaurosis with 9-cis-BC and 9-cis-retin
137 lity of a reliable mammalian model of NMNAT1-Leber congenital amaurosis would assist in determining t
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