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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
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
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
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
32 unrelated patients diagnosed with CKD due to nephronophthisis, chronic GN, interstitial nephritis, or
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
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
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
46 gn'), variably associated retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly and is
48 esting that oral-facial-digital syndrome and nephronophthisis may involve a dysfunction of centrioles
50 1) in eight patients from five families with nephronophthisis (NPH) and retinal degeneration, two of
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.
63 e nucleoporin Nup62 and the C termini of the nephronophthisis (NPHP) proteins NPHP4 and NPHP5 interac
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
77 modules/complexes (Meckel syndrome [MKS] and Nephronophthisis [NPHP]) defined by genetic interaction,
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
85 B-encoding genes in 1,467 individuals with a nephronophthisis-related ciliopathy or whole-exome reseq
87 e two ciliopathies Bardet-Biedl syndrome and nephronophthisis share multiple clinical manifestations,
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
94 venile-onset cystic kidney disease, known as nephronophthisis, typically progressing to end-stage ren
96 e thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and t
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