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2. Polycystic kidney disease. 1: Identification and analysis of the primary defect. Harris PC; Ward CJ; Peral B; Hughes J J Am Soc Nephrol; 1995 Oct; 6(4):1125-33. PubMed ID: 8589278 [TBL] [Abstract][Full Text] [Related]
3. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Hughes J; Ward CJ; Peral B; Aspinwall R; Clark K; San Millán JL; Gamble V; Harris PC Nat Genet; 1995 Jun; 10(2):151-60. PubMed ID: 7663510 [TBL] [Abstract][Full Text] [Related]
4. The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium. Cell; 1994 Jun; 77(6):881-94. PubMed ID: 8004675 [TBL] [Abstract][Full Text] [Related]
5. Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. Peral B; San Millán JL; Ong AC; Gamble V; Ward CJ; Strong C; Harris PC Am J Hum Genet; 1996 Jan; 58(1):86-96. PubMed ID: 8554072 [TBL] [Abstract][Full Text] [Related]
6. Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium. Cell; 1995 Apr; 81(2):289-98. PubMed ID: 7736581 [TBL] [Abstract][Full Text] [Related]
7. Comparative analysis of the polycystic kidney disease 1 (PKD1) gene reveals an integral membrane glycoprotein with multiple evolutionary conserved domains. Sandford R; Sgotto B; Aparicio S; Brenner S; Vaudin M; Wilson RK; Chissoe S; Pepin K; Bateman A; Chothia C; Hughes J; Harris P Hum Mol Genet; 1997 Sep; 6(9):1483-9. PubMed ID: 9285785 [TBL] [Abstract][Full Text] [Related]
8. Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Brook-Carter PT; Peral B; Ward CJ; Thompson P; Hughes J; Maheshwar MM; Nellist M; Gamble V; Harris PC; Sampson JR Nat Genet; 1994 Dec; 8(4):328-32. PubMed ID: 7894481 [TBL] [Abstract][Full Text] [Related]
9. Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Peral B; Gamble V; Strong C; Ong AC; Sloane-Stanley J; Zerres K; Winearls CG; Harris PC Am J Hum Genet; 1997 Jun; 60(6):1399-410. PubMed ID: 9199561 [TBL] [Abstract][Full Text] [Related]
10. Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease. Ding L; Zhang S; Qiu W; Xiao C; Wu S; Zhang G; Cheng L; Zhang S Nephrol Dial Transplant; 2002 Jan; 17(1):75-80. PubMed ID: 11773467 [TBL] [Abstract][Full Text] [Related]
11. A novel cyclin gene (CCNF) in the region of the polycystic kidney disease gene (PKD1). Kraus B; Pohlschmidt M; Leung AL; Germino GG; Snarey A; Schneider MC; Reeders ST; Frischauf AM Genomics; 1994 Nov; 24(1):27-33. PubMed ID: 7896286 [TBL] [Abstract][Full Text] [Related]
12. Genes homologous to the autosomal dominant polycystic kidney disease genes (PKD1 and PKD2). Veldhuisen B; Spruit L; Dauwerse HG; Breuning MH; Peters DJ Eur J Hum Genet; 1999 Dec; 7(8):860-72. PubMed ID: 10602361 [TBL] [Abstract][Full Text] [Related]
13. Generation of a transcriptional map for a 700-kb region surrounding the polycystic kidney disease type 1 (PKD1) and tuberous sclerosis type 2 (TSC2) disease genes on human chromosome 16p3.3. Burn TC; Connors TD; Van Raay TJ; Dackowski WR; Millholland JM; Klinger KW; Landes GM Genome Res; 1996 Jun; 6(6):525-37. PubMed ID: 8828041 [TBL] [Abstract][Full Text] [Related]
15. Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR. Thomas R; McConnell R; Whittacker J; Kirkpatrick P; Bradley J; Sandford R Am J Hum Genet; 1999 Jul; 65(1):39-49. PubMed ID: 10364515 [TBL] [Abstract][Full Text] [Related]
16. Novel splicing and missense mutations in autosomal dominant polycystic kidney disease 1 (PKD1) gene: expression of mutated genes. Aguiari G; Savelli S; Garbo M; Bozza A; Augello G; Penolazzi L; De Paoli Vitali E; La Torre C; Cappelli G; Piva R; del Senno L Hum Mutat; 2000 Nov; 16(5):444-5. PubMed ID: 11058904 [TBL] [Abstract][Full Text] [Related]
17. Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease. Kim UK; Jin DK; Ahn C; Shin JH; Lee KB; Kim SH; Chae JJ; Hwang DY; Lee JG; Namkoong Y; Lee CC Mutat Res; 2000 Feb; 432(1-2):39-45. PubMed ID: 10729710 [TBL] [Abstract][Full Text] [Related]
18. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Sampson JR; Maheshwar MM; Aspinwall R; Thompson P; Cheadle JP; Ravine D; Roy S; Haan E; Bernstein J; Harris PC Am J Hum Genet; 1997 Oct; 61(4):843-51. PubMed ID: 9382094 [TBL] [Abstract][Full Text] [Related]
19. A human PKD1 transgene generates functional polycystin-1 in mice and is associated with a cystic phenotype. Pritchard L; Sloane-Stanley JA; Sharpe JA; Aspinwall R; Lu W; Buckle V; Strmecki L; Walker D; Ward CJ; Alpers CE; Zhou J; Wood WG; Harris PC Hum Mol Genet; 2000 Nov; 9(18):2617-27. PubMed ID: 11063721 [TBL] [Abstract][Full Text] [Related]
20. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. Consugar MB; Wong WC; Lundquist PA; Rossetti S; Kubly VJ; Walker DL; Rangel LJ; Aspinwall R; Niaudet WP; Ozen S; David A; Velinov M; Bergstralh EJ; Bae KT; Chapman AB; Guay-Woodford LM; Grantham JJ; Torres VE; Sampson JR; Dawson BD; Harris PC; Kidney Int; 2008 Dec; 74(11):1468-79. PubMed ID: 18818683 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]