BACKGROUND Numerous studies have reported CFTR mutations in CBAVD (congenital
bilateral absence of the vas deferens) patients, but their results are not completely …

Azoospermia due to obstructive and non-obstructive mechanisms is a common
manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors …

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 …

Several diseases have been clinically or genetically related to cystic fibrosis (CF), but a
consensus definition is lacking. Here, we present a proposal for consensus guidelines on …

Alternative splicing of human cystic fibrosis transmembrane conductance regulator (CFTR)
exon 9 is regulated by a combination of cis‐acting elements distributed through the exon …

In 1997, the National Institutes of Health convened a Consensus Development Conference
on Cystic Fibrosis (CF). 1 The Consensus Conference recommended that genetic screening …

В монографии изложены современные представления об этиологии и патогенезе
хромосомных болезней. Рассмотрены основные стадии гаметогенеза и эмбриогенеза …

The increasing number of laboratories offering molecular genetic analysis of the CFTR gene
and the growing use of commercial kits strengthen the need for an update of previous best …

Background Between 1 in 6 and 1 in 10 couples seek medical help for the problem of
subfertility. It is important to recognize that, while in 20–25% of cases the problem was due …

BACKGROUND & AIMS:: Nonalcoholic chronic pancreatitis is usually idiopathic and often
associated with cystic fibrosis gene (CFTR) mutations. It is unknown whether pancreatitis …