Categories of ΔF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics
F Mekus, M Ballmann, I Bronsveld, J Bijman… - Twin Research and …, 2000 - cambridge.org
Cystic fibrosis (CF), the most common severe autosomal recessive trait among Caucasians,
is caused by molecular lesions in the cystic fibrosis transmembrane conductance regulator …
is caused by molecular lesions in the cystic fibrosis transmembrane conductance regulator …
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe
We report a large genomic deletion of the cystic fibrosis transmembrane conductance
regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern …
regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern …
[HTML][HTML] Chloride conductance and genetic background modulate the cystic fibrosis phenotype of ΔF508 homozygous twins and siblings
I Bronsveld, F Mekus, J Bijman… - The Journal of …, 2001 - Am Soc Clin Investig
To investigate the impact of chloride (Cl–) permeability, mediated by residual activity of the
cystic fibrosis transmembrane conductance regulator (CFTR) or by other Cl–channels, on …
cystic fibrosis transmembrane conductance regulator (CFTR) or by other Cl–channels, on …
Residual chloride secretion in intestinal tissue of ΔF508 homozygous twins and siblings with cystic fibrosis
I Bronsveld, F Mekus, J Bijman, M Ballmann, J Greipel… - Gastroenterology, 2000 - Elsevier
Background & Aims: Cholinergic stimulation of chloride secretion is impaired in the
intestines of patients with cystic fibrosis (CF). However, intestinal chloride secretion has …
intestines of patients with cystic fibrosis (CF). However, intestinal chloride secretion has …
Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients
T Dörk, F Mekus, K Schmidt, J Boßhammer, R Fislage… - Human genetics, 1994 - Springer
We have conducted a comprehensive study of the molecular basis of cystic fibrosis (CF) in
350 German CF patients. A screening approach based on single-strand conformation …
350 German CF patients. A screening approach based on single-strand conformation …
Cystic-fibrosis-like disease unrelated to the cystic fibrosis transmembrane conductance regulator
F Mekus, M Ballmann, I Bronsveld, T Dörk, J Bijman… - Human genetics, 1998 - Springer
Cystic fibrosis (CF) is considered to be a monogenic disease caused by molecular lesions
within the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is …
within the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is …
Genes in the vicinity of CFTR modulate the cystic fibrosis phenotype in highly concordant or discordant F508del homozygous sib pairs
F Mekus, U Laabs, H Veeze, B Tümmler - Human genetics, 2003 - Springer
Cystic fibrosis (CF) is the most common severe autosomal recessive disease among
Caucasians and is caused by lesions within the cystic fibrosis transmembrane conductance …
Caucasians and is caused by lesions within the cystic fibrosis transmembrane conductance …
[HTML][HTML] Cystic fibrosis transmembrane conductance regulator (CFTR)-mediated residual chloride secretion does not protect against early chronic Pseudomonas …
N Derichs, F Mekus, I Bronsveld, J Bijman… - Pediatric …, 2004 - nature.com
Cystic fibrosis (CF) disease severity is characterized by a broad variability that has been
attributed, in addition to the CF transmembrane conductance regulator (CFTR) genotype, to …
attributed, in addition to the CF transmembrane conductance regulator (CFTR) genotype, to …
Analysis of microsatellites by direct blotting electrophoresis and chemiluminescence detection
We describe a fast and reliable method for the nonradioactive analysis of microsatellites. For
three dinucleotide repeats within the cystic fibrosis transmebrane conductance regulator …
three dinucleotide repeats within the cystic fibrosis transmebrane conductance regulator …
Clinical presentation of exclusive cystic fibrosis lung disease
I Bronsveld, J Bijman, F Mekus, M Ballmann, HJ Veeze… - Thorax, 1999 - thorax.bmj.com
The diagnosis of cystic fibrosis (CF) is based on the occurrence of two mutations in the cystic
fibrosis transmembrane conductance regulator (CFTR) gene and on assays that measure …
fibrosis transmembrane conductance regulator (CFTR) gene and on assays that measure …