Polycystic liver disease (PLD) is the result of embryonic ductal plate malformation of the
intrahepatic biliary tree. The phenotype consists of numerous cysts spread throughout the …

Abstract THE ETIOLOGY AND pathogenesis of intracranial aneurysms are clearly
multifactorial, with genetic factors playing an increasingly recognized role. Intracranial …

A second gene for autosomal dominant polycystic kidney disease was identified by
positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in …

Individuals who are at risk for autosomal dominant polycystic kidney disease are often
screened by ultrasound using diagnostic criteria derived from individuals with mutations in …

Abstract Characterization of the polycystic kidney disease 1 (PKD1) gene has been
complicated by genomic rearrangements on chromosome 16. We have used an exon linking …

Background Although autosomal dominant polycystic kidney disease type 2 (PKD2) is
known to have a milder clinical phenotype than PKD1, neither disorder has been compared …

Autosomal dominant polycystic kidney disease (ADPKD) describes a group of at least three
genetically distinct disorders with almost identical clinical features1–6 that collectively affects …

Autosomal dominant polycystic kidney disease (ADPKD) is a common disease and an
important cause of renal failure. It is characterized by considerable intrafamilial phenotypic …

Mutation-based molecular diagnostics of autosomal dominant polycystic kidney disease
(ADPKD) is complicated by genetic and allelic heterogeneity, large multi-exon genes …

Germline mutations in PKD2 cause autosomal dominant polycystic kidney disease. We have
introduced a mutant exon 1 in tandem with the wild-type exon 1 at the mouse Pkd2 locus …