PURPOSE: Formal studies of the genetics of enuresis have been performed since the 1930s
and molecular genetics since 1995, both highlighting the importance of hereditary factors in …

A polymorphic DNA marker has been found genetically linked, in a set of 39 human families,
to an autosomal recessive gene that causes cystic fibrosis (CF), a disease affecting one in …

Cystic fibrosis (CF) is the most common genetic disease in Caucasian populations, with an
incidence of 1 in 2,000 live births in the United Kingdom, and a carrier frequency of …

The human eye color is a quantitative trait displaying multifactorial inheritance. Several
studies have shown that the OCA2 locus is the major contributor to the human eye color …

Abstract Congenital cataracts cause 10–30% of all blindness in children, with one-third of
cases estimated to have a genetic cause 1. Lamellar cataract is the most common type of …

Chronic pancreatitis is a common inflammatory disease of the pancreas. Mutations in the
genes encoding cationic trypsinogen (PRSS1) and the pancreatic secretory trypsin inhibitor …

purpose. To characterize the spectrum of mutations in the OPA1 gene in a large
international panel of patients with autosomal dominant optic atrophy (adOA), to improve …

Aging associates with impaired pancreatic islet function and increased type 2 diabetes
(T2D) risk. Here we examine whether age-related epigenetic changes affect human islet …

Objective Benign familial infantile seizures (BFIS), paroxysmal kinesigenic dyskinesia
(PKD), and their combination—known as infantile convulsions and paroxysmal …

Nocturnal enuresis, or nightly bedwetting in children more than seven years of age affects
about 10% of seven-year-old children, with a wide range of frequencies between …