356 related articles for article (PubMed ID: 8004675)
1. 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]
2. Autosomal dominant polycystic kidney disease: molecular analysis.
Harris PC; Ward CJ; Peral B; Hughes J
Hum Mol Genet; 1995; 4 Spec No():1745-9. PubMed ID: 8541874
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
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. 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]
8. Novel mutations in the duplicated region of the polycystic kidney disease 1 (PKD1) gene provides supporting evidence for gene conversion.
Afzal AR; Florêncio RN; Taylor R; Patton MA; Saggar-Malik A; Jeffery S
Genet Test; 2000; 4(4):365-70. PubMed ID: 11216660
[TBL] [Abstract][Full Text] [Related]
9. A novel splice-acceptor site mutation (IVS13-2A>T) of polycystic kidney disease 1 (PKD1) gene resulting in an RNA processing defect with a 74-nucleotide deletion in exon 14 of the mRNA transcript.
Thongnoppakhun A; Rungroj N; Wilairat P; Vareesangthip K; Sirinavin C; Yenchitsomanus PT
Hum Mutat; 2000 Jan; 15(1):115. PubMed ID: 10612835
[TBL] [Abstract][Full Text] [Related]
10. Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP).
Thongnoppakhun W; Limwongse C; Vareesangthip K; Sirinavin C; Bunditworapoom D; Rungroj N; Yenchitsomanus PT
BMC Med Genet; 2004 Feb; 5():2. PubMed ID: 15018634
[TBL] [Abstract][Full Text] [Related]
11. 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 Aug; 78(4):725. PubMed ID: 8069919
[No Abstract] [Full Text] [Related]
12. 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]
13. Presymptomatic molecular diagnosis of autosomal dominant polycystic kidney disease using PKD1- and PKD2-linked markers in Cypriot families.
Deltas CC; Christodoulou K; Tjakouri C; Pierides A
Clin Genet; 1996 Jul; 50(1):10-8. PubMed ID: 8891380
[TBL] [Abstract][Full Text] [Related]
14. Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis.
Brasier JL; Henske EP
J Clin Invest; 1997 Jan; 99(2):194-9. PubMed ID: 9005987
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Haplotype analysis in autosomal dominant polycystic kidney disease.
Pound SE; Thomas S; Snarey A; Macnicol AM; Watson ML; Pignatelli PM; Frischauf AM; Harris PC; Wright AF
J Med Genet; 1995 Mar; 32(3):208-12. PubMed ID: 7783171
[TBL] [Abstract][Full Text] [Related]
17. Mutation analysis in PKD1 of Japanese autosomal dominant polycystic kidney disease patients.
Inoue S; Inoue K; Utsunomiya M; Nozaki J; Yamada Y; Iwasa T; Mori E; Yoshinaga T; Koizumi A
Hum Mutat; 2002 Jun; 19(6):622-8. PubMed ID: 12007219
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Novel PKD1 deletions and missense variants in a cohort of Hellenic polycystic kidney disease families.
Bouba I; Koptides M; Mean R; Costi CE; Demetriou K; Georgiou I; Pierides A; Siamopoulos K; Deltas CC
Eur J Hum Genet; 2001 Sep; 9(9):677-84. PubMed ID: 11571556
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
