142 related articles for article (PubMed ID: 25726036)
21. Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation.
Kawaguchi T; Yoshida T; Hirahashi J; Uehara T; Takenouchi T; Kosaki K; Itoh H; Hayashi M
Nephron; 2018; 140(1):74-78. PubMed ID: 29991045
[TBL] [Abstract][Full Text] [Related]
22. Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease.
Zhang D; Lu L; Yang HB; Li M; Sun H; Zeng ZP; Li XP; Xia WB; Xing XP
Chin Med J (Engl); 2012 Jul; 125(14):2482-6. PubMed ID: 22882926
[TBL] [Abstract][Full Text] [Related]
23. Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.
Calinescu-Tuleasca AM; Bottani A; Rougemont AL; Birraux J; Gubler MC; Le Coultre C; Majno P; Mentha G; Girardin E; Belli D; Wildhaber BE
Eur J Pediatr; 2013 Jul; 172(7):877-81. PubMed ID: 21845392
[TBL] [Abstract][Full Text] [Related]
24. Case Report: Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly.
Nabhan MM; Abdelaziz H; Xu Y; El Sayed R; Santibanez-Koref M; Soliman NA; Sayer JA
Genet Mol Res; 2015 Apr; 14(2):3618-24. PubMed ID: 25966130
[TBL] [Abstract][Full Text] [Related]
25. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C; Senderek J; Schneider F; Dornia C; Küpper F; Eggermann T; Rudnik-Schöneborn S; Kirfel J; Moser M; Büttner R; Zerres K
Hum Mutat; 2004 May; 23(5):487-95. PubMed ID: 15108281
[TBL] [Abstract][Full Text] [Related]
26. [Gene analysis and literature review of autosomal recessive polycystic kidney disease].
Zhang JW; Wang C; Wang CY; Qiu ZQ
Zhonghua Er Ke Za Zhi; 2013 Sep; 51(9):684-7. PubMed ID: 24330989
[TBL] [Abstract][Full Text] [Related]
27. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination.
Otto EA; Schermer B; Obara T; O'Toole JF; Hiller KS; Mueller AM; Ruf RG; Hoefele J; Beekmann F; Landau D; Foreman JW; Goodship JA; Strachan T; Kispert A; Wolf MT; Gagnadoux MF; Nivet H; Antignac C; Walz G; Drummond IA; Benzing T; Hildebrandt F
Nat Genet; 2003 Aug; 34(4):413-20. PubMed ID: 12872123
[TBL] [Abstract][Full Text] [Related]
28. Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
Melchionda S; Palladino T; Castellana S; Giordano M; Benetti E; De Bonis P; Zelante L; Bisceglia L
J Hum Genet; 2016 Sep; 61(9):811-21. PubMed ID: 27225849
[TBL] [Abstract][Full Text] [Related]
29. Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.
Sakakibara N; Nozu K; Yamamura T; Horinouchi T; Nagano C; Ye MJ; Ishiko S; Aoto Y; Rossanti R; Hamada R; Okamoto N; Shima Y; Nakanishi K; Matsuo M; Iijima K; Morisada N
J Hum Genet; 2022 Jul; 67(7):427-440. PubMed ID: 35140360
[TBL] [Abstract][Full Text] [Related]
30. Caroli's syndrome with autosomal recessive polycystic kidney disease in a two month old infant.
Kim JT; Hur YJ; Park JM; Kim MJ; Park YN; Lee JS
Yonsei Med J; 2006 Feb; 47(1):131-4. PubMed ID: 16502495
[TBL] [Abstract][Full Text] [Related]
31. A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family.
Xu Y; Xiao B; Jiang WT; Wang L; Gen HQ; Chen YW; Sun Y; Ji X
Gene; 2014 Nov; 551(1):33-8. PubMed ID: 25153916
[TBL] [Abstract][Full Text] [Related]
32. Intrafamilial phenotypic variability in a Polish family with Sensenbrenner syndrome and biallelic WDR35 mutations.
Walczak-Sztulpa J; Wawrocka A; Sobierajewicz A; Kuszel L; Zawadzki J; Grenda R; Swiader-Lesniak A; Kocyla-Karczmarewicz B; Wnuk A; Latos-Bielenska A; Chrzanowska KH
Am J Med Genet A; 2017 May; 173(5):1364-1368. PubMed ID: 28332779
[TBL] [Abstract][Full Text] [Related]
33. Autosomal recessive polycystic disease with biliary dysgenesis.
Herman TE; Siegel MJ
J Perinatol; 2001; 21(5):339-40. PubMed ID: 11536032
[No Abstract] [Full Text] [Related]
34. Analysis of missense variants in the PKHD1-gene in patients with autosomal recessive polycystic kidney disease (ARPKD).
Losekoot M; Haarloo C; Ruivenkamp C; White SJ; Breuning MH; Peters DJ
Hum Genet; 2005 Nov; 118(2):185-206. PubMed ID: 16133180
[TBL] [Abstract][Full Text] [Related]
35. Nephronophthisis and related syndromes.
Wolf MT
Curr Opin Pediatr; 2015 Apr; 27(2):201-11. PubMed ID: 25635582
[TBL] [Abstract][Full Text] [Related]
36. Mutational analysis in 119 families with nephronophthisis.
O'Toole JF; Otto EA; Hoefele J; Helou J; Hildebrandt F
Pediatr Nephrol; 2007 Mar; 22(3):366-70. PubMed ID: 17061121
[TBL] [Abstract][Full Text] [Related]
37. Evidence of oligogenic inheritance in nephronophthisis.
Hoefele J; Wolf MT; O'Toole JF; Otto EA; Schultheiss U; Dêschenes G; Attanasio M; Utsch B; Antignac C; Hildebrandt F
J Am Soc Nephrol; 2007 Oct; 18(10):2789-95. PubMed ID: 17855640
[TBL] [Abstract][Full Text] [Related]
38. Clinical manifestations of autosomal recessive polycystic kidney disease.
Hoyer PF
Curr Opin Pediatr; 2015 Apr; 27(2):186-92. PubMed ID: 25689455
[TBL] [Abstract][Full Text] [Related]
39. Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.
Utsch B; Sayer JA; Attanasio M; Pereira RR; Eccles M; Hennies HC; Otto EA; Hildebrandt F
Pediatr Nephrol; 2006 Jan; 21(1):32-5. PubMed ID: 16240161
[TBL] [Abstract][Full Text] [Related]
40. Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing.
Otto EA; Helou J; Allen SJ; O'Toole JF; Wise EL; Ashraf S; Attanasio M; Zhou W; Wolf MT; Hildebrandt F
Hum Mutat; 2008 Mar; 29(3):418-26. PubMed ID: 18076122
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
