Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns-Reference-Cited by-同舟云学术

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Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns

Published:2005-03-17 Issue:8 Volume:83 Page:638-646
ISSN:0946-2716
Container-title:Journal of Molecular Medicine
language:en
Short-container-title:J Mol Med

Author:

Peltola Paula,Lumiaho Anne,Miettinen Raija,Pihlajamäki Jussi,Sandford Richard,Laakso Markku

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Drug Discovery,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00109-005-0644-6.pdf

Reference28 articles.

1. Iglesias CG, Torres VE, Offord KP, Holley KE, Beard CM, Kurland LT (1983) Epidemiology of adult polycystic kidney disease, Olmsted County, Minnesota: 1935–1980. Am J Kidney Dis 2:630–639

2. Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Pearson PL, Weatherall DJ (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317:542–544

3. Breuning MH, Reeders ST, Brunner H, Ijdo JW, Saris JJ, Verwest A, van Ommen GJ, Pearson PL (1987) Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. Lancet 2:1359–1361

4. Kimberling WJ, Fain PR, Kenyon JB, Goldgar D, Sujansky E, Gabow PA (1988) Linkage heterogeneity of autosomal dominant polycystic kidney disease. N Engl J Med 319:913–918

5. Wright AF, Teague PW, Pound SE, Pignatelli PM, Macnicol AM, Carothers AD, De Mey RJ, Allan PL, Watson ML (1993) A study of genetic linkage heterogeneity in 35 adult-onset polycystic kidney disease families. Hum Genet 90:569–571

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1. The Case | Asymmetric kidney cysts in a patient with negative family history;Kidney International;2024-08

2. System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease;Scientific Reports;2016-10-26

3. Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients;Human Mutation;2012-05-24

4. High Resolution Melt analysis for mutation screening in PKD1 and PKD2;BMC Nephrology;2011-10-18

5. A Non-Synonymous Mutation in the Canine Pkd1 Gene Is Associated with Autosomal Dominant Polycystic Kidney Disease in Bull Terriers;PLoS ONE;2011-07-27

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