Gene conversion, one of the two mechanisms of homologous recombination, involves the
unidirectional transfer of genetic material from a'donor'sequence to a highly homologous' …

Significant advances in the management of cystic fibrosis (CF) in recent decades have
dramatically changed the epidemiology and prognosis of this serious disease, which is no …

There is wide agreement on the benefits of NBS for CF in terms of lowered disease severity,
decreased burden of care, and reduced costs. Risks are mainly associated with disclosure …

Background Congenital bilateral absence of the vas deferens (CBAVD) is a form of male
infertility in which mutations in the cystic fibrosis transmembrane conductance regulator …

Autosomal dominant polycystic kidney disease (ADPKD) is heterogeneous with regard to
genic and allelic heterogeneity, as well as phenotypic variability. The genotype-phenotype …

Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of
iron metabolism. The HFE candidate gene encoding an HLA class I-like protein involved in …

Background and aims: The prevalence and natural history of hereditary pancreatitis (HP)
remain poorly documented. The aims of this study were to assess genetic, epidemiological …

The course of autosomal dominant polycystic kidney disease (ADPKD) varies among
individuals, with some reaching ESRD before 40 years of age and others never requiring …

METHODS All French genetic laboratories (response rate 100%), pediatricians, and
gastroenterologists (response rate 84%) were contacted. Inclusion criteria: mutation in the …

Chronic pancreatitis is an inflammatory disorder of the pancreas. We analyzed CPA1,
encoding carboxypeptidase A1, in subjects with nonalcoholic chronic pancreatitis (cases) …