Background Duplications and deletions in the human genome can cause disease or
predispose persons to disease. Advances in technologies to detect these changes allow for …

Claudins are major components of tight junctions and contribute to the epithelial-barrier
function by restricting free diffusion of solutes through the paracellular pathway. We have …

The mechanisms responsible for the determination of phenotypes are still not well
understood; however, it has become apparent that modifier genes must play a considerable …

Purpose: Epilepsies have a highly heterogeneous background with a strong genetic
contribution. The variety of unspecific and overlapping syndromic and nonsyndromic …

Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of
severe epilepsies accompanied by intellectual disability and other neurodevelopmental …

Sequencing-based studies have identified novel risk genes associated with severe
epilepsies and revealed an excess of rare deleterious variation in less-severe forms of …

Rationale: The relationship between sensitization to Aspergillus fumigatus and progression
of pulmonary function is not yet established in cystic fibrosis (CF). Objectives: We aimed to …

Based on serial lung function measurements performed in 142 children (68 males; 74
females) with cystic fibrosis (CF), prospectively evaluated over an age range of 6 to 20 …

Increased longevity of hypopituitary dwarf mice and GH-resistant knockout mice appears to
be in contrast with observations made in clinical practice. In humans, on one hand …

Hypomagnesemia affects insulin resistance and is a risk factor for diabetes mellitus type 2
(DM2) and gestational diabetes mellitus (GDM). Two single nucleotide polymorphisms …