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Results: 1 to 20 of 529

1.

Co-inheritance of a PKD1 mutation and homozygous PKD2 variant: a potential modifier in autosomal dominant polycystic kidney disease.

Dedoussis GV, Luo Y, Starremans P, Rossetti S, Ramos AJ, Cantiello HF, Katsareli E, Ziroyannis P, Lamnissou K, Harris PC, Zhou J.

Eur J Clin Invest. 2008 Mar;38(3):180-90. doi: 10.1111/j.1365-2362.2007.01913.x.

PMID:
18257781
[PubMed - indexed for MEDLINE]
2.

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]
3.

[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]
4.

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]
5.

Genetic evidence for a trans-heterozygous model for cystogenesis in autosomal dominant polycystic kidney disease.

Koptides M, Mean R, Demetriou K, Pierides A, Deltas CC.

Hum Mol Genet. 2000 Feb 12;9(3):447-52.

PMID:
10655555
[PubMed - indexed for MEDLINE]
Free Article
6.

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
7.

Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

Tan YC, Blumenfeld JD, Anghel R, Donahue S, Belenkaya R, Balina M, Parker T, Levine D, Leonard DG, Rennert H.

Hum Mutat. 2009 Feb;30(2):264-73. doi: 10.1002/humu.20842.

PMID:
18837007
[PubMed - indexed for MEDLINE]
8.

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
9.

Progression of kidney disease varies between families with defects in the polycystic kidney disease type 1 gene in eastern Finland.

Lumiaho A, Ikäheimo R, Pihlajamäki J, Miettinen R, Niemitukia L, Vanninen R, Lampainen E, Laakso M.

Scand J Urol Nephrol. 2003;37(4):352-8.

PMID:
12944197
[PubMed - indexed for MEDLINE]
10.

PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.

Chung W, Kim H, Hwang YH, Kim SY, Ko AR, Ro H, Lee KB, Lee JS, Oh KH, Ahn C.

Clin Genet. 2006 Dec;70(6):502-8. Erratum in: Clin Genet. 2007 Feb;71(2):193.

PMID:
17100995
[PubMed - indexed for MEDLINE]
11.

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D, Pei Y.

J Am Soc Nephrol. 2003 May;14(5):1164-74.

PMID:
12707387
[PubMed - indexed for MEDLINE]
Free Article
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.

PMID:
10602361
[PubMed - indexed for MEDLINE]
Free Article
13.

Autosomal dominant polycystic kidney disease: clues to pathogenesis.

Harris PC.

Hum Mol Genet. 1999;8(10):1861-6. Review.

PMID:
10469838
[PubMed - indexed for MEDLINE]
Free Article
14.

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]
15.

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]
16.

Germinal and somatic mutations in the PKD2 gene of renal cysts in autosomal dominant polycystic kidney disease.

Koptides M, Hadjimichael C, Koupepidou P, Pierides A, Constantinou Deltas C.

Hum Mol Genet. 1999 Mar;8(3):509-13.

PMID:
9949210
[PubMed - indexed for MEDLINE]
Free Article
17.

Autosomal dominant polycystic kidney disease (ADPKD, MIM 173900, PKD1 and PKD2 genes, protein products known as polycystin-1 and polycystin-2).

Boucher C, Sandford R.

Eur J Hum Genet. 2004 May;12(5):347-54. Review.

PMID:
14872199
[PubMed - indexed for MEDLINE]
Free Article
18.

Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.

Losekoot M, Ruivenkamp CA, Tholens AP, Grimbergen JE, Vijfhuizen L, Vermeer S, Dijkman HB, Cornelissen EA, Bongers EM, Peters DJ.

J Med Genet. 2012 Jan;49(1):37-40. doi: 10.1136/jmedgenet-2011-100452. Epub 2011 Nov 23.

PMID:
22114106
[PubMed - indexed for MEDLINE]
19.

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
20.

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

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