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 …

The availability of the human genome sequence and tools for interrogating individual
genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian …

Cystic Fibrosis (CF) is a genetic disorder that arises due to mutations in the Cystic Fibrosis
Transmembrane Conductance Regulator gene, which encodes for a protein responsible for …

Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …

Cystic fibrosis (CF), a monogenic disease caused by mutations in the CFTR gene on
chromosome 7, is complex and greatly variable in clinical expression. Airways, pancreas …

Cystic fibrosis transmembrane conductance regulator (CFTR) functions as a channel that
regulates the transport of ions and the movement of water across the epithelial barrier …

An arteriovenous malformation is a tangle of dysplastic vessels (nidus) fed by arteries and
drained by veins without intervening capillaries, forming a high-flow, low-resistance shunt …

The identification of small molecules that target specific CFTR variants has ushered in a new
era of treatment for cystic fibrosis (CF), yet optimal, individualized treatment of CF will require …

Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is
soon likely to be in use throughout the United States, because early detection permits …

It is often challenging for the clinician interested in cystic fibrosis (CF) to interpret molecular
genetic results, and to integrate them in the diagnostic process. The limitations of genotyping …