619 related articles for article (PubMed ID: 11919560)
1. 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]
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. Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.
Ward CJ; Yuan D; Masyuk TV; Wang X; Punyashthiti R; Whelan S; Bacallao R; Torra R; LaRusso NF; Torres VE; Harris PC
Hum Mol Genet; 2003 Oct; 12(20):2703-10. PubMed ID: 12925574
[TBL] [Abstract][Full Text] [Related]
4. 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]
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. Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene.
Onuchic LF; Mrug M; Hou X; Eggermann T; Bergmann C; Zerres K; Avner ED; Furu L; Somlo S; Nagasawa Y; Germino GG; Guay-Woodford LM
Am J Med Genet; 2002 Jul; 110(4):346-52. PubMed ID: 12116208
[TBL] [Abstract][Full Text] [Related]
7. [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]
8. 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]
9. 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]
10. [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]
11. Molecular genetics of autosomal recessive polycystic kidney disease.
Harris PC; Rossetti S
Mol Genet Metab; 2004 Feb; 81(2):75-85. PubMed ID: 14741187
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. A novel gene encoding a TIG multiple domain protein is a positional candidate for autosomal recessive polycystic kidney disease.
Xiong H; Chen Y; Yi Y; Tsuchiya K; Moeckel G; Cheung J; Liang D; Tham K; Xu X; Chen XZ; Pei Y; Zhao ZJ; Wu G
Genomics; 2002 Jul; 80(1):96-104. PubMed ID: 12079288
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease.
Michel-Calemard L; Dijoud F; Till M; Lambert JC; Vercherat M; Tardy V; Coubes C; Morel Y
Clin Genet; 2009 Feb; 75(2):203-6. PubMed ID: 19021639
[No Abstract] [Full Text] [Related]
[Next] [New Search]
