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 …

Congenital bilateral absence of the vas deferens (CBAVD) is a form of infertility with an
autosomal recessive genetic background in otherwise healthy males. CBAVD is caused by …

Thousands of mutations are identified yearly. Although many directly affect protein
expression, an increasing proportion of mutations is now believed to influence mRNA …

Abstract Between 50,000 and 60,000 mutations have been described in various genes that
are associated with a wide variety of diseases. Reporting, storing and analysing these data …

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 …

Marfan syndrome is an extracellular matrix disorder with cardinal manifestations in the eye,
skeleton and cardiovascular systems associated with defects in the gene encoding fibrillin …

The CCR5-Δ32 deletion obliterates the CCR5 chemokine and the human immunodeficiency
virus (HIV)–1 coreceptor on lymphoid cells, leading to strong resistance against HIV-1 …

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 …

ΔF508 is the most frequent cystic fibrosis (CF) mutation and accounts for approximately 70%
of CF chromosomes worldwide. Three highly polymorphic microsatellite markers have been …

Mutations in the fibrillin-1 (FBN1) gene cause Marfan syndrome (MFS) and have been
associated with a wide range of overlapping phenotypes. Clinical care is complicated by …