Condition: Polycystic Kidney, Autosomal Dominant


rs1131692280 in PKD2 gene and Polycystic Kidney, Autosomal Dominant PMID 11007674 2000 Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.

PMID 12707387 2003 Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

PMID 17582161 2007 Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

PMID 22863349 2012 Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.

PMID 22383692 2012 Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

PMID 10411676 1999 Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.

PMID 22508176 2012 Autosomal dominant polycystic kidney disease: comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients.

PMID 18837007 2009 Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.

PMID 8650545 1996 PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.

PMID 23300259 2013 Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany.

PMID 27499327 2016 Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).

PMID 25333066 2014 Diagnosis of autosomal dominant polycystic kidney disease using efficient PKD1 and PKD2 targeted next-generation sequencing.

PMID 11968093 2002 Four novel mutations of the PKD2 gene in Czech families with autosomal dominant polycystic kidney disease.

PMID 25574838 2015 Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner.

PMID 16540757 2006 Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome.

PMID 17100995 2006 PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.

PMID 28356211 2017 PKD2-Related Autosomal Dominant Polycystic Kidney Disease: Prevalence, Clinical Presentation, Mutation Spectrum, and Prognosis.

PMID 15192819 2004 [Mutation detection of PKD2 gene in Chinese by denaturing high-performance liquid chromatograph].

PMID 15772804 2005 Genetics and phenotypic characteristics of autosomal dominant polycystic kidney disease in Finns.

PMID 24374109 2014 Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

PMID 27782177 2016 System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease.

PMID 10760080 2000 Location of mutations within the PKD2 gene influences clinical outcome.

PMID 10541293 1999 Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.