229 related articles for article (PubMed ID: 25851290)
21. 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]
22. Two rare copy number variants involving loss of
Liu CH; Li LJ; Tian M; Cao GH; Zhang SF; Li JT
Niger J Clin Pract; 2023 Apr; 26(4):524-527. PubMed ID: 37203120
[TBL] [Abstract][Full Text] [Related]
23. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1.
Hildebrandt F; Otto E; Rensing C; Nothwang HG; Vollmer M; Adolphs J; Hanusch H; Brandis M
Nat Genet; 1997 Oct; 17(2):149-53. PubMed ID: 9326933
[TBL] [Abstract][Full Text] [Related]
24. Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion.
Tong H; Zhao F; Yang Y; Qiu X; Zhu L; Yu Z
Clin Pediatr (Phila); 2023 Dec; 62(12):1508-1512. PubMed ID: 36942623
[TBL] [Abstract][Full Text] [Related]
25. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Stokman MF; van der Zwaag B; van de Kar NCAJ; van Haelst MM; van Eerde AM; van der Heijden JW; Kroes HY; Ippel E; Schulp AJA; van Gassen KL; van Rooij IALM; Giles RH; Beales PL; Roepman R; Arts HH; Bongers EMHF; Renkema KY; Knoers NVAM; van Reeuwijk J; Lilien MR
Pediatr Nephrol; 2018 Oct; 33(10):1701-1712. PubMed ID: 29974258
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. A family with five siblings affected with nephronophthisis.
Albaramki J; Akl K; Hamed R; Wahbeh A
Saudi J Kidney Dis Transpl; 2014 May; 25(3):630-3. PubMed ID: 24821164
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. Clinical features and mutation of NPHP5 in two Chinese siblings with Senior-Løken syndrome.
Tong H; Yue Z; Sun L; Chen H; Wang W; Wang H
Nephrology (Carlton); 2013 Dec; 18(12):838-42. PubMed ID: 24674142
[TBL] [Abstract][Full Text] [Related]
32. 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]
33. 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]
34. 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]
35. A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints.
Otto E; Betz R; Rensing C; Schätzle S; Kuntzen T; Vetsi T; Imm A; Hildebrandt F
Hum Mutat; 2000 Sep; 16(3):211-23. PubMed ID: 10980528
[TBL] [Abstract][Full Text] [Related]
36. Atypical histological abnormalities in an adult patient with nephronophthisis harboring NPHP1 deletion: a case report.
Akira M; Suzuki H; Ikeda A; Iwasaki M; Honda D; Takahara H; Rinno H; Tomita S; Suzuki Y
BMC Nephrol; 2021 Jul; 22(1):261. PubMed ID: 34246230
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
Chaki M; Hoefele J; Allen SJ; Ramaswami G; Janssen S; Bergmann C; Heckenlively JR; Otto EA; Hildebrandt F
Kidney Int; 2011 Dec; 80(11):1239-45. PubMed ID: 21866095
[TBL] [Abstract][Full Text] [Related]
39. Clinical and histological presentation of 3 siblings with mutations in the NPHP4 gene.
Hoefele J; Otto E; Felten H; Kühn K; Bley TA; Zäuner I; Hildebrandt F; Neumann HP
Am J Kidney Dis; 2004 Feb; 43(2):358-64. PubMed ID: 14750102
[TBL] [Abstract][Full Text] [Related]
40. Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report.
Qiu L; Zhou J
BMC Pediatr; 2016 Mar; 16():44. PubMed ID: 27004562
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
