Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal
monogenic disorder. It has large inter-and intra-familial variability explained to a large extent …

The interpretation of genomic variants has become one of the paramount challenges in the
post-genome sequencing era. In this review we summarize nearly 20 years of research on …

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 …

Autosomal dominant polycystic kidney disease (ADPKD), the most common inherited kidney
disorder, is caused by mutations in PKD1 or PKD2. The molecular diagnosis of ADPKD is …

Autosomal dominant polycystic kidney disease (ADPKD) is a common nephropathy caused
by mutations in either PKD1 or PKD2. Mutations in PKD1 account for∼ 85% of cases and …

Mutations of PKD1 and PKD2 account for 85 and 15% of cases of autosomal dominant
polycystic kidney disease (ADPKD), respectively. Clinically, PKD1 is more severe than …

Both autosomal dominant and recessive polycystic kidney disease are conditions with
severe associated morbidity and mortality. Recent advances in the understanding of the …

Background As we emerge into the genomic medicine era, the epidemiology of diseases is
taken for granted. Accurate prevalence figures, especially of rare diseases (RDs,≤ 50/100 …

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited
cause of kidney failure and accounts for∼ 5% of ESRD population in the United States. The …

In patients with autosomal dominant polycystic kidney disease (ADPKD) evaluated for
kidney transplantation, issues related to native nephrectomy, cystic liver involvement …