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Results: 1 to 20 of 198

1.

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

Veldhuisen B, Saris JJ, de Haij S, Hayashi T, Reynolds DM, Mochizuki T, Elles R, Fossdal R, Bogdanova N, van Dijk MA, Coto E, Ravine D, Nørby S, Verellen-Dumoulin C, Breuning MH, Somlo S, Peters DJ.

Am J Hum Genet. 1997 Sep;61(3):547-55.

PMID:
9326320
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.

Viribay M, Hayashi T, Tellería D, Mochizuki T, Reynolds DM, Alonso R, Lens XM, Moreno F, Harris PC, Somlo S, San Millán JL.

Hum Genet. 1997 Dec;101(2):229-34.

PMID:
9402976
[PubMed - indexed for MEDLINE]
3.

Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.

Reiterová J, Stekrová J, Peters DJ, Kapras J, Kohoutová M, Merta M, Zidovská J.

Hum Mutat. 2002 May;19(5):573.

PMID:
11968093
[PubMed - indexed for MEDLINE]
4.

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.

Mochizuki T, Wu G, Hayashi T, Xenophontos SL, Veldhuisen B, Saris JJ, Reynolds DM, Cai Y, Gabow PA, Pierides A, Kimberling WJ, Breuning MH, Deltas CC, Peters DJ, Somlo S.

Science. 1996 May 31;272(5266):1339-42.

PMID:
8650545
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
10602361
[PubMed - indexed for MEDLINE]
Free Article
6.

[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].

Torra R, Badenas C, Pérez-Oller L, San Millán JL, Tellería D, Estivill X, Darnell A.

Nefrologia. 2000 Jan-Feb;20(1):39-46. Spanish.

PMID:
10822721
[PubMed - indexed for MEDLINE]
7.

A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2.

Torra R, Badenas C, San Millán JL, Pérez-Oller L, Estivill X, Darnell A.

Am J Hum Genet. 1999 Aug;65(2):345-52.

PMID:
10417277
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene.

Pei Y, Wang K, Kasenda M, Paterson AD, Liang Y, Huang E, Lian J, Rogovea E, Somlo S, St George-Hyslop P.

Kidney Int. 1998 May;53(5):1127-32.

PMID:
9573526
[PubMed - indexed for MEDLINE]
Free Article
9.

Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.

Torra R, Badenas C, Pérez-Oller L, Luis J, Millán S, Nicolau C, Oppenheimer F, Milà M, Darnell A.

Am J Kidney Dis. 2000 Oct;36(4):728-34.

PMID:
11007674
[PubMed - indexed for MEDLINE]
10.

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
11.

Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.

Watnick T, He N, Wang K, Liang Y, Parfrey P, Hefferton D, St George-Hyslop P, Germino G, Pei Y.

Nat Genet. 2000 Jun;25(2):143-4.

PMID:
10835625
[PubMed - indexed for MEDLINE]
12.

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.

PMID:
10729710
[PubMed - indexed for MEDLINE]
13.

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
14.

PKD2 mutations in a Czech population with autosomal dominant polycystic kidney disease.

Stekrová J, Reiterová J, Merta M, Damborsky J, Zidovská J, Kebrdlová V, Kohoutová M.

Nephrol Dial Transplant. 2004 May;19(5):1116-22. Epub 2004 Feb 19.

PMID:
14993477
[PubMed - indexed for MEDLINE]
Free Article
15.

PKD1 and PKD2 mutations in Slovenian families with autosomal dominant polycystic kidney disease.

Vouk K, Strmecki L, Stekrova J, Reiterova J, Bidovec M, Hudler P, Kenig A, Jereb S, Zupanic-Pajnic I, Balazic J, Haarpaintner G, Leskovar B, Adamlje A, Skoflic A, Dovc R, Hojs R, Komel R.

BMC Med Genet. 2006 Jan 23;7:6.

PMID:
16430766
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease.

Pei Y, Watnick T, He N, Wang K, Liang Y, Parfrey P, Germino G, St George-Hyslop P.

J Am Soc Nephrol. 1999 Jul;10(7):1524-9.

PMID:
10405208
[PubMed - indexed for MEDLINE]
Free Article
17.

Mutations of the PKD2 gene in Taiwanese patients with autosomal dominant polycystic kidney disease.

Chang MY, Fang JT, Huang CC, Wu IW, Wu Chou YH.

Ren Fail. 2005;27(1):95-100.

PMID:
15717641
[PubMed - indexed for MEDLINE]
18.

Characterization of the exon structure of the polycystic kidney disease 2 gene (PKD2).

Hayashi T, Mochizuki T, Reynolds DM, Wu G, Cai Y, Somlo S.

Genomics. 1997 Aug 15;44(1):131-6.

PMID:
9286709
[PubMed - indexed for MEDLINE]
19.

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.

Torra R, Viribay M, Tellería D, Badenas C, Watson M, Harris P, Darnell A, San Millán JL.

Kidney Int. 1999 Jul;56(1):28-33.

PMID:
10411676
[PubMed - indexed for MEDLINE]
Free Article
20.

Current advances in molecular genetics of autosomal-dominant polycystic kidney disease.

Wu G.

Curr Opin Nephrol Hypertens. 2001 Jan;10(1):23-31. Review.

PMID:
11195048
[PubMed - indexed for MEDLINE]
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