181 related articles for article (PubMed ID: 17061121)
21. Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing.
Yamamura T; Morisada N; Nozu K; Minamikawa S; Ishimori S; Toyoshima D; Ninchoji T; Yasui M; Taniguchi-Ikeda M; Morioka I; Nakanishi K; Nishio H; Iijima K
Clin Exp Nephrol; 2017 Feb; 21(1):136-142. PubMed ID: 26968886
[TBL] [Abstract][Full Text] [Related]
22. High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Tory K; Lacoste T; Burglen L; Morinière V; Boddaert N; Macher MA; Llanas B; Nivet H; Bensman A; Niaudet P; Antignac C; Salomon R; Saunier S
J Am Soc Nephrol; 2007 May; 18(5):1566-75. PubMed ID: 17409309
[TBL] [Abstract][Full Text] [Related]
23. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
Parisi MA; Bennett CL; Eckert ML; Dobyns WB; Gleeson JG; Shaw DW; McDonald R; Eddy A; Chance PF; Glass IA
Am J Hum Genet; 2004 Jul; 75(1):82-91. PubMed ID: 15138899
[TBL] [Abstract][Full Text] [Related]
24. Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.
Li J; Su X; Zhang H; Wu W; Li J; Chen Y; Li J; Fu Q; Wu C; Zhong X; Wang C; Liu L
Pediatr Nephrol; 2023 May; 38(5):1609-1620. PubMed ID: 36227438
[TBL] [Abstract][Full Text] [Related]
25. Pseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletion.
Hoefele J; Nayir A; Chaki M; Imm A; Allen SJ; Otto EA; Hildebrandt F
Pediatr Nephrol; 2011 Jun; 26(6):967-71. PubMed ID: 21258817
[TBL] [Abstract][Full Text] [Related]
26. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Lindstrand A; Davis EE; Carvalho CM; Pehlivan D; Willer JR; Tsai IC; Ramanathan S; Zuppan C; Sabo A; Muzny D; Gibbs R; Liu P; Lewis RA; Banin E; Lupski JR; Clark R; Katsanis N
Am J Hum Genet; 2014 May; 94(5):745-54. PubMed ID: 24746959
[TBL] [Abstract][Full Text] [Related]
27. Fluorescence in situ hybridization for the diagnosis of NPHP1 deletion-related nephronophthisis on renal biopsy.
Larsen CP; Bonsib SM; Beggs ML; Wilson JD
Hum Pathol; 2018 Nov; 81():71-77. PubMed ID: 29949740
[TBL] [Abstract][Full Text] [Related]
28. Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X; Liu C; Liu X; Chen J; Fan X; Liu J; Ma D; Cao G; Chen Z; Xu D; Zhu Y; Jiang X; Cheng L; Wu Y; Hou L; Li Y; Shao X; Zheng S; Zhang A; Zheng B; Jian S; Rong Z; Su Q; Gao X; Rao J; Shen Q; Xu H; ;
J Med Genet; 2022 Feb; 59(2):147-154. PubMed ID: 33323469
[TBL] [Abstract][Full Text] [Related]
29. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J; Porath JD; Diaz KA; Braun DA; Kohl S; Chaki M; Allen SJ; Soliman NA; Hildebrandt F; Otto EA;
Hum Genet; 2013 Aug; 132(8):865-84. PubMed ID: 23559409
[TBL] [Abstract][Full Text] [Related]
30. Gene mutation and clinical analysis of nephronophthisis diagnosed using whole exome sequencing: Experience from China
.
Tang X; Xu H; Shen Q; Li G; Rao J; Chen J; Zhai Y; Miao Q
Clin Nephrol; 2019 Aug; 92(2):89-94. PubMed ID: 31131822
[TBL] [Abstract][Full Text] [Related]
31. Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis.
Hildebrandt F; Rensing C; Betz R; Sommer U; Birnbaum S; Imm A; Omran H; Leipoldt M; Otto E;
Kidney Int; 2001 Feb; 59(2):434-45. PubMed ID: 11168925
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis.
Hoefele J; Sudbrak R; Reinhardt R; Lehrack S; Hennig S; Imm A; Muerb U; Utsch B; Attanasio M; O'Toole JF; Otto E; Hildebrandt F
Hum Mutat; 2005 Apr; 25(4):411. PubMed ID: 15776426
[TBL] [Abstract][Full Text] [Related]
34. Retinitis pigmentosa and renal failure in a patient with mutations in INVS.
O'Toole JF; Otto EA; Frishberg Y; Hildebrandt F
Nephrol Dial Transplant; 2006 Jul; 21(7):1989-91. PubMed ID: 16522655
[TBL] [Abstract][Full Text] [Related]
35. A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution.
Otto E; Hoefele J; Ruf R; Mueller AM; Hiller KS; Wolf MT; Schuermann MJ; Becker A; Birkenhäger R; Sudbrak R; Hennies HC; Nürnberg P; Hildebrandt F
Am J Hum Genet; 2002 Nov; 71(5):1161-7. PubMed ID: 12205563
[TBL] [Abstract][Full Text] [Related]
36. A case report of two Chinese monozygotic twins with NPHP1 gene-associated nephronophthisis undergoing kidney transplantation from a related living-donor.
Liu Y; Qiu T; Chen Z; Ma X; Wang T; Zhang Y; Kong C; Yu B; Guo J; Zhou J
Transpl Immunol; 2023 Jun; 78():101828. PubMed ID: 36948406
[TBL] [Abstract][Full Text] [Related]
37. Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults.
Bollée G; Fakhouri F; Karras A; Noël LH; Salomon R; Servais A; Lesavre P; Morinière V; Antignac C; Hummel A
Nephrol Dial Transplant; 2006 Sep; 21(9):2660-3. PubMed ID: 16782989
[No Abstract] [Full Text] [Related]
38. Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis.
Heninger E; Otto E; Imm A; Caridi G; Hildebrandt F
Am J Kidney Dis; 2001 Jun; 37(6):1131-9. PubMed ID: 11382680
[TBL] [Abstract][Full Text] [Related]
39. Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.
Kang HG; Lee HK; Ahn YH; Joung JG; Nam J; Kim NK; Ko JM; Cho MH; Shin JI; Kim J; Park HW; Park YS; Ha IS; Chung WY; Lee DY; Kim SY; Park WY; Cheong HI
Exp Mol Med; 2016 Aug; 48(8):e251. PubMed ID: 27491411
[TBL] [Abstract][Full Text] [Related]
40. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin.
Mollet G; Salomon R; Gribouval O; Silbermann F; Bacq D; Landthaler G; Milford D; Nayir A; Rizzoni G; Antignac C; Saunier S
Nat Genet; 2002 Oct; 32(2):300-5. PubMed ID: 12244321
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
