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1 y defects seen in renal ciliopathies such as nephronophthisis.
2 res of polycystic kidney disease, especially nephronophthisis.
3 in the human juvenile cystic kidney disease, nephronophthisis.
4 racterized by Leber congenital amaurosis and nephronophthisis.
5 ariability in retinal phenotypes observed in nephronophthisis.
6 dividuals with the hereditary kidney disease nephronophthisis.
7 onic kidney disease with features resembling nephronophthisis.
8 est that oligogenicity may occur in cases of nephronophthisis.
9 an one gene may also be detected in cases of nephronophthisis.
10 tify mutations in the gene CEP290 as causing nephronophthisis.
11 ng autosomal dominant and recessive PKD, and nephronophthisis.
12 itical role in polycystic kidney disease and nephronophthisis.
13 in this gene were previously associated with nephronophthisis 15, thus the current results expand the
14 of the 11 genes, none has been described for nephronophthisis 4 (Nphp4).
15             Mutations in GLIS2 are linked to nephronophthisis, a chronic kidney disease characterized
16 liary gene were previously reported to cause nephronophthisis, a chronic tubulointerstitial nephropat
17 tein product of the gene mutated in juvenile nephronophthisis, an autosomal recessive cystic kidney d
18                                              Nephronophthisis, an autosomal recessive kidney disease,
19     Mutations of SDCCAG8 are associated with nephronophthisis and Bardet-Biedl syndrome, as well as s
20     All affected individuals had early-onset nephronophthisis and four out of eight displayed learnin
21 tagener syndrome, polycystic kidney disease, nephronophthisis and hydrocephalus.
22 n associated with human ciliopathies, namely nephronophthisis and orofaciodigital syndrome.
23 ransport protein IFT139, cause both isolated nephronophthisis and syndromic Jeune asphyxiating thorac
24 Nek8 kinase, mutated in the renal ciliopathy nephronophthisis, and DNA damage control by cyclin A/Cdk
25 polycystic kidney diseases (PKDs), including nephronophthisis, are characterized by formation of flui
26 ral defects likely include familial juvenile nephronophthisis, as well as the polycystic diseases.
27 onent-encoding gene, as a cause of infantile nephronophthisis associated with central nervous system
28 pite the known interaction between CSPP1 and nephronophthisis-associated proteins, none of the affect
29 ult in cystic changes in the kidney, such as nephronophthisis, autosomal recessive polycystic kidney
30 juvenile cystic kidneys (jck) mouse model of nephronophthisis by pharmacological inhibition of CDK5 u
31                       Twenty-five percent of nephronophthisis cases are caused by large homozygous de
32 unrelated patients diagnosed with CKD due to nephronophthisis, chronic GN, interstitial nephritis, or
33 eening of a large cohort of individuals with nephronophthisis demonstrated no mutations.
34 tic kidney disease genes and products of the nephronophthisis disease genes are at least partially lo
35 ogy in KIN is indistinguishable from that of nephronophthisis, except for the presence of karyomegaly
36 approach, we identified linkage to infantile nephronophthisis for markers on chromosome 9q22-31.
37 ndromes, including Bardet-Biedl syndrome and nephronophthisis, for which all of the encoded proteins
38 known to interact, we examined patients with nephronophthisis from 94 different families and sequence
39 ions of NPHP1, but six genes responsible for nephronophthisis have been identified.
40 mptoms, including polycystic kidney disease, nephronophthisis, hydrocephalus, polydactyly, situs inve
41 othesized that mutations in NEK8 might cause nephronophthisis in humans, so we performed mutational a
42                                              Nephronophthisis is a recessive cystic renal disease tha
43                                    Infantile nephronophthisis is associated with cystic kidneys, situ
44 ant PKD (Pkd1 conditional knockout mice) and nephronophthisis (jck and pcy mice).
45 ants of X-prolyl aminopeptidase 3, can cause nephronophthisis-like ciliopathy.
46 gn'), variably associated retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly and is
47                    A known familial juvenile nephronophthisis locus on chromosome 2q13 and autosomal
48 esting that oral-facial-digital syndrome and nephronophthisis may involve a dysfunction of centrioles
49           Loss of this repressor function in nephronophthisis might be an important factor promoting
50 1) in eight patients from five families with nephronophthisis (NPH) and retinal degeneration, two of
51                                              Nephronophthisis (NPH) is an autosomal-recessive cystic
52                                              Nephronophthisis (NPH), an autosomal-recessive tubuloint
53 d forms, autosomal recessive PKD (ARPKD) and nephronophthisis (NPH), are characterized by collecting-
54 h two renal ciliopathies in humans and mice, nephronophthisis (NPHP) and polycystic kidney disease.
55                                              Nephronophthisis (NPHP) comprises a group of autosomal r
56       The autosomal recessive kidney disease nephronophthisis (NPHP) constitutes the most frequent ge
57 NPHP1 is the most frequent cause of isolated nephronophthisis (NPHP) in humans.
58                                              Nephronophthisis (NPHP) is an autosomal recessive kidney
59                                              Nephronophthisis (NPHP) is one of the most common geneti
60                                              Nephronophthisis (NPHP) is the major cause of pediatric
61                                              Nephronophthisis (NPHP) is the most common genetic cause
62                                              Nephronophthisis (NPHP) is the most frequent genetic cau
63 e nucleoporin Nup62 and the C termini of the nephronophthisis (NPHP) proteins NPHP4 and NPHP5 interac
64                                              Nephronophthisis (NPHP), a recessive cystic kidney disea
65                                              Nephronophthisis (NPHP), an autosomal recessive cystic k
66                                              Nephronophthisis (NPHP), an autosomal recessive cystic k
67                                              Nephronophthisis (NPHP), an autosomal recessive kidney d
68                                              Nephronophthisis (NPHP), an autosomal-recessive cystic k
69                Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and Joubert syndrome (JBTS) are
70                Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), and related ciliopathies presen
71                   Among the ciliopathies are Nephronophthisis (NPHP), characterized by cystic kidney
72                                              Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Grub
73 lated genetic disorders in humans, including nephronophthisis (NPHP), Joubert syndrome (JBTS), Meckel
74 mation in multiple human syndromes including nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), J
75                                              Nephronophthisis (NPHP)-related ciliopathies are recessi
76 r progressive renal failure characterized by nephronophthisis (NPHP).
77 modules/complexes (Meckel syndrome [MKS] and Nephronophthisis [NPHP]) defined by genetic interaction,
78 , and a gene locus associated with infantile nephronophthisis (NPHP2) was mapped.
79  the assumption that mutations in NEK8 cause nephronophthisis (NPHP9), adding another link between pr
80  in mouse leads to the cystic kidney disease nephronophthisis, owing to an unexpected decrease in end
81                                              Nephronophthisis-related ciliopathies (NPHP-RC) are dege
82                                              Nephronophthisis-related ciliopathies (NPHP-RC) are rece
83                                              Nephronophthisis-related ciliopathies (NPHP-RC) are rece
84                                              Nephronophthisis-related ciliopathies (NPHP-RCs) are dev
85 B-encoding genes in 1,467 individuals with a nephronophthisis-related ciliopathy or whole-exome reseq
86 n-encoding genes in 1,255 individuals with a nephronophthisis-related ciliopathy.
87 e two ciliopathies Bardet-Biedl syndrome and nephronophthisis share multiple clinical manifestations,
88 domain, in a subset of patients with JS plus nephronophthisis, suggest a shared pathway.
89  proteome: cystic kidney disease (especially nephronophthisis) syndromes, including Meckel/Joubert-li
90 atrophy and progressive fibrosis, similar to nephronophthisis, that ultimately results in renal failu
91                       The molecular basis of nephronophthisis, the most frequent genetic cause of ren
92 v) and the INVS (NPHP2) gene in infants with nephronophthisis type 2 (NPHP2).
93  vertebrate ortholog of Drosophila Ci, cause nephronophthisis type 7 in humans and mice.
94 venile-onset cystic kidney disease, known as nephronophthisis, typically progressing to end-stage ren
95                    A novel type of infantile nephronophthisis was identified in an extended Bedouin f
96 e thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and t
97 ns in TINag and nephrocystin-1 genes lead to nephronophthisis with reduced cell survival.

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