Cystic fibrosis: genotypic and phenotypic variations
J Zielenski, LC Tsui - Annual review of genetics, 1995 - go.gale.com
Cystic fibrosis is a recessive disorder common among Caucasians. Although the disease
has been known in the 1930s, it was only in the late 1980s that the molecular mechanisms …
has been known in the 1930s, it was only in the late 1980s that the molecular mechanisms …
Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic …
LC Tsui - Human mutation, 1992 - Wiley Online Library
Cystic fibrosis is the most common autosomal disorder in the Caucasian population. Since
the description of the major mutation of this disease in 1989, over 150 of additional …
the description of the major mutation of this disease in 1989, over 150 of additional …
Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans
M Noguchi, H Yi, HM Rosenblatt, AH Filipovich… - Cell, 1993 - cell.com
Summary The lnterleukln-2 (IL-2) receptor y chain (IL-S&) is a component of high and
Intermediate affinity IL-2 receptors that is required to achieve full ligand binding affinity and …
Intermediate affinity IL-2 receptors that is required to achieve full ligand binding affinity and …
Voltammetric DNA biosensor for cystic fibrosis based on a modified carbon paste electrode
KM Millan, A Saraullo, SR Mikkelsen - Analytical chemistry, 1994 - ACS Publications
Carbon paste electrodes modified by the inclusion of either octadecylamine or stearic acid
were used as solid phases to which DNA was covalently bound. Immobilized DNA was …
were used as solid phases to which DNA was covalently bound. Immobilized DNA was …
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
Congenital absence of the vas deferens (CAVD) is a frequent cause for obstructive
azoospermia and accounts for 1%–2% of male infertility. A high incidence of mutations of the …
azoospermia and accounts for 1%–2% of male infertility. A high incidence of mutations of the …
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
F Pagani, C Stuani, M Tzetis… - Human molecular …, 2003 - academic.oup.com
The increase in genome scanning data, derived from clinical genetics practice, is producing
a wealth of information on human sequence variability. The critical issue is to identify if a …
a wealth of information on human sequence variability. The critical issue is to identify if a …
CFTR gene mutations – including three novel nucleotide substitutions – and haplotype background in patients with asthma, disseminated bronchiectasis and chronic …
M Tzetis, A Efthymiadou, S Strofalis, P Psychou… - Human genetics, 2001 - Springer
In order to investigate the incidence of cystic fibrosis transmembrane conductance regulator
(CFTR) gene mutations and unclassified variants in chronic pulmonary disease in children …
(CFTR) gene mutations and unclassified variants in chronic pulmonary disease in children …
CFTR gene mutations in adults with disseminated bronchiectasis
E Girodon, C Cazeneuve, F Lebargy, T Chinet… - European Journal of …, 1997 - karger.com
The severity and type of clinical manifestations are variable in patients with cystic fibrosis
(CF). The respiratory syndromes in these patients consist of lung infections associated with …
(CF). The respiratory syndromes in these patients consist of lung infections associated with …
CFTR Cl− channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis
Background & Aims: Cystic fibrosis (CF) is caused by over 1000 mutations in the cystic
fibrosis transmembrane conductance regulator (CFTR) gene and presents with a widely …
fibrosis transmembrane conductance regulator (CFTR) gene and presents with a widely …
Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression
D Muilwijk, E De Poel, P Van Mourik… - European …, 2022 - Eur Respiratory Soc
Rationale Cystic fibrosis (CF) is a monogenic life-shortening disease associated with highly
variable individual disease progression which is difficult to predict. Here we assessed the …
variable individual disease progression which is difficult to predict. Here we assessed the …