This comprehensive State of the Art review summarizes the current published knowledge
base regarding the pathophysiology and microbiology of pulmonary disease in cystic …

Although there have been numerous reports from around the world of mutations in the gene
of chromosome 7 known as CFTR (cystic fibrosis transmembrane conductance regulator) …

The Jews are an ancient people with a history spanning several millennia. Genetic studies
over the past 50 years have shed light on Jewish origins, the relatedness of Jewish …

The splicing variant, 5T allele, in intron 8 of the cystic fibrosis transmembrane conductance
regulator (CFTR) gene was shown to be associated with partial penetrance of the clinical …

The presence of four lysosomal storage diseases (LSDs) at increased frequency in the
Ashkenazi Jewish population has suggested to many the operation of natural selection …

Objective. The aim of this study was to define the role of possible risk factors for the
development of cystic fibrosis (CF)-related liver disease and to analyze the association …

Purpose: To estimate CFTR mutation frequencies, clinical sensitivities (proportions of carrier
couples or affected fetuses detected), and birth prevalence estimates for broad racial/ethnic …

Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic
fibrosis transmembrane conductance regulator (CFTR) gene. The disease is characterized …

METHODS Records of all patients seen by the Clinical Genetics Service at Memorial Sloan-
Kettering Cancer Center (MSKCC) from 1.6. 95 to 30.6. 01, who identified themselves as …

In Israel, genetic screening and testing are widespread and are on the rise. The socialized
medical system, the governmental National Program for the Detection and Prevention of …