277 related articles for article (PubMed ID: 16677362)
1. Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation.
Prelog M; Bergmann C; Ausserlechner MJ; Fischer H; Margreiter R; Gassner I; Brunner A; Jungraithmayr TC; Zerres K; Sergi C; Zimmerhackl LB
Pediatr Transplant; 2006 May; 10(3):362-6. PubMed ID: 16677362
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Multi-exon deletions of the PKHD1 gene cause autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C; Küpper F; Schmitt CP; Vester U; Neuhaus TJ; Senderek J; Zerres K
J Med Genet; 2005 Oct; 42(10):e63. PubMed ID: 16199545
[TBL] [Abstract][Full Text] [Related]
4. Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD).
Fischer DC; Jacoby U; Pape L; Ward CJ; Kuwertz-Broeking E; Renken C; Nizze H; Querfeld U; Rudolph B; Mueller-Wiefel DE; Bergmann C; Haffner D
Nephrol Dial Transplant; 2009 Jun; 24(6):1819-27. PubMed ID: 19176689
[TBL] [Abstract][Full Text] [Related]
5. Molecular basis of autosomal recessive polycystic kidney disease (ARPKD).
Al-Bhalal L; Akhtar M
Adv Anat Pathol; 2008 Jan; 15(1):54-8. PubMed ID: 18156813
[TBL] [Abstract][Full Text] [Related]
6. Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD).
Sweeney WE; Avner ED
Cell Tissue Res; 2006 Dec; 326(3):671-85. PubMed ID: 16767405
[TBL] [Abstract][Full Text] [Related]
7. Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis.
Jang DG; Chae H; Shin JC; Park IY; Kim M; Kim Y
J Obstet Gynaecol Res; 2011 Nov; 37(11):1744-7. PubMed ID: 21790888
[TBL] [Abstract][Full Text] [Related]
8. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
Ward CJ; Hogan MC; Rossetti S; Walker D; Sneddon T; Wang X; Kubly V; Cunningham JM; Bacallao R; Ishibashi M; Milliner DS; Torres VE; Harris PC
Nat Genet; 2002 Mar; 30(3):259-69. PubMed ID: 11919560
[TBL] [Abstract][Full Text] [Related]
9. [From gene to disease; PKHD1 and recessive polycystic kidney disease].
Peters DJ; Losekoot M; de Die-Smulders CE; Stevens-Baldewijns M; Breuning MH
Ned Tijdschr Geneeskd; 2005 Feb; 149(9):463-6. PubMed ID: 15771341
[TBL] [Abstract][Full Text] [Related]
10. [Genetic and phenotypic aspects of autosomal recessive polycystic kidney disease in southern Israel].
Finer G; Birk O; Landau D
Harefuah; 2004 Jul; 143(7):466-70, 552. PubMed ID: 15669417
[TBL] [Abstract][Full Text] [Related]
11. Optimizing outcomes for neonatal ARPKD.
Beaunoyer M; Snehal M; Li L; Concepcion W; Salvatierra O; Sarwal M
Pediatr Transplant; 2007 May; 11(3):267-71. PubMed ID: 17430481
[TBL] [Abstract][Full Text] [Related]
12. A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
Rossetti S; Torra R; Coto E; Consugar M; Kubly V; Málaga S; Navarro M; El-Youssef M; Torres VE; Harris PC
Kidney Int; 2003 Aug; 64(2):391-403. PubMed ID: 12846734
[TBL] [Abstract][Full Text] [Related]
13. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C; Senderek J; Windelen E; Küpper F; Middeldorf I; Schneider F; Dornia C; Rudnik-Schöneborn S; Konrad M; Schmitt CP; Seeman T; Neuhaus TJ; Vester U; Kirfel J; Büttner R; Zerres K;
Kidney Int; 2005 Mar; 67(3):829-48. PubMed ID: 15698423
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD).
Moser M; Matthiesen S; Kirfel J; Schorle H; Bergmann C; Senderek J; Rudnik-Schöneborn S; Zerres K; Buettner R
Hepatology; 2005 May; 41(5):1113-21. PubMed ID: 15830394
[TBL] [Abstract][Full Text] [Related]
16. End-stage renal disease due to ARPKD in the first months of life: transplantation or dialysis?--two case reports.
Beil S; Drube J; Gluer S; Lehner F; Ehrich JH; Pape L
Pediatr Transplant; 2010 Sep; 14(6):E75-8. PubMed ID: 19413724
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
Obeidova L; Seeman T; Elisakova V; Reiterova J; Puchmajerova A; Stekrova J
BMC Med Genet; 2015 Dec; 16():116. PubMed ID: 26695994
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. [Polycystic kidney diseases: molecular genetics and counselling].
Lespinasse J; Fourcade J; Schir F
Nephrol Ther; 2006 Jul; 2(3):120-6. PubMed ID: 16890136
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
