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

Context Male infertility is defined as the inability to conceive following 1 year of regular
unprotected intercourse. It is the causative factor in 50% of couples and a leading indication …

Purpose: The summary presented herein represents Part I of the two-part series dedicated to
the Diagnosis and Treatment of Infertility in Men: AUA/ASRM Guideline. Part I outlines the …

We performed a scan for genetic variants associated with multiple phenotypes by comparing
large genome-wide association studies (GWAS) of 42 traits or diseases. We identified 341 …

Cystic fibrosis is an autosomal recessive disease caused by mutations of the gene encoding
the cystic fibrosis transmembrane conductance regulator (CFTR). Here we summarize, at the …

Approximately 7% of men suffer from fertility problems, the etiology of which are ascribable
to a number of factors acting at pretesticular, posttesticular, or testicular levels. About 20% of …

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

Reproduction is required for the survival of all mammalian species, and thousands of
essential'sex'genes are conserved through evolution. Basic research helps to define these …

The utilization of recent advances in molecular and genomic technologies and progress in
pancreatic imaging techniques provided remarkable insight into genetic, environmental …

An initial screening evaluation of the male partner of an infertile couple should be performed
if pregnancy has not occurred within 1 year of unprotected intercourse. An evaluation may …