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Results: 1 to 20 of 177

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.

[No authors listed]

Cell. 1994 Jun 17;77(6):881-94. Erratum in: Cell 1995 Jun 30;81(7):following 1170. Cell. 1994 Aug 26;78(4):725.

PMID:
8004675
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
9199561
[PubMed - indexed for MEDLINE]
Free PMC Article
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. Review.

PMID:
8589278
[PubMed - indexed for MEDLINE]
Free Article
4.

Autosomal dominant polycystic kidney disease: molecular analysis.

Harris PC, Ward CJ, Peral B, Hughes J.

Hum Mol Genet. 1995;4 Spec No:1745-9. Review.

PMID:
8541874
[PubMed - indexed for MEDLINE]
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.

PMID:
8554072
[PubMed - indexed for MEDLINE]
Free PMC Article
6.
7.

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.

PMID:
11216660
[PubMed - indexed for MEDLINE]
8.

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 1;24(1):27-33.

PMID:
7896286
[PubMed - indexed for MEDLINE]
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.

PMID:
10612835
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
11058904
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
8891380
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
9382094
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

Rossetti S, Strmecki L, Gamble V, Burton S, Sneddon V, Peral B, Roy S, Bakkaloglu A, Komel R, Winearls CG, Harris PC.

Am J Hum Genet. 2001 Jan;68(1):46-63. Epub 2000 Dec 12.

PMID:
11115377
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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.

PMID:
11773467
[PubMed - indexed for MEDLINE]
Free Article
15.

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.

PMID:
12007219
[PubMed - indexed for MEDLINE]
16.
17.

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.

PMID:
11571556
[PubMed - indexed for MEDLINE]
Free Article
18.

An unusual pattern of mutation in the duplicated portion of PKD1 is revealed by use of a novel strategy for mutation detection.

Watnick TJ, Piontek KB, Cordal TM, Weber H, Gandolph MA, Qian F, Lens XM, Neumann HP, Germino GG.

Hum Mol Genet. 1997 Sep;6(9):1473-81.

PMID:
9285784
[PubMed - indexed for MEDLINE]
Free Article
19.
20.

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.

PMID:
7783171
[PubMed - indexed for MEDLINE]
Free PMC Article

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