Familial Mediterranean fever (FMF) is a recessively inherited disorder predisposing to renal
amyloidosis and associated with mutations in MEFV, a gene encoding a protein of unknown …

Hirschsprung disease (HD) has been described in association with microcephaly, mental
retardation and characteristic facial features, delineating a syndrome possibly caused by …

We investigated whether mutations in the genes that code for the different subunits of the
amiloride‐sensitive epithelial sodium channel (ENaC) might result in cystic fibrosis (CF)‐like …

Objective Familial Mediterranean fever (FMF) is an autosomal‐recessive disorder that is
common in Armenian, Turkish, Arab, and Sephardic Jewish populations. Its clinical diagnosis is …

Only half of colorectal‐cancer patients elicit serum antibodies in response to intratumoral
p53‐gene mutations. Our study was designed to compare cellular events (p53‐protein …

It was reported recently that 99m Tc-hexakis-2-methoxyisobutyl isonitrile (MIBI) uptake is
drastically reduced in cancer cells that express the multidrug resistance (MDR) product, Pgp …

Fetal bowel anomalies may reveal cystic fibrosis (CF) and the search for CF transmembrane
conductance regulator (CFTR) gene mutations is part of the diagnostic investigations in …

Background: Precise genotyping of the intron 8 poly(TG) and poly(T) tracts of the cystic
fibrosis transmembrane conductance regulator (CFTR) gene is of clinical relevance in CFTR …

Supp. Figure S1. Given the fact that several mutants significantly affected sodium transport,
the steady state protein levels of these mutants were determined by pulse-chase experiments…

Background Prostatic artery embolisation (PAE) is a minimally invasive treatment of
symptomatic benign prostatic hyperplasia (BPH). Our aim was to compare patient's symptoms …