[HTML][HTML] The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era

A Mishra, R Greaves, J Massie - The Clinical biochemist. Reviews …, 2005 - ncbi.nlm.nih.gov
Cystic fibrosis (CF) is the most common inherited disorder of childhood. The diagnosis of CF
has traditionally been based on clinical features with confirmatory evidence by sweat …

Cystic fibrosis: a review of epidemiology and pathobiology

SD Strausbaugh, PB Davis - Clinics in chest medicine, 2007 - Elsevier
Improvements in outcomes for patients who have cystic fibrosis (CF) have been striking in
the last 30 years. Median survival now approaches the fifth decade of life. Advances in the …

Genetic linkage of von Recklinghausen neurofibromatosis to the nerve growth factor receptor gene

BR Seizinger, GA Rouleau, LJ Ozelius, AH Lane… - Cell, 1987 - cell.com
Introduction von Recklinghausen neurofibromatosis (VRNF) is one of the most frequent and
clinically important Mendelian disorders in man, with an incidence of 1 in 3000 (Crowe et al …

Impaired chloride secretion, as well as bicarbonate secretion, underlies the fluid secretory defect in the cystic fibrosis pancreas

H Kopelman, M Corey, K Gaskin, P Durie, ZVI Weizman… - Gastroenterology, 1988 - Elsevier
Pancreatic fluid and electrolyte secretion was assessed in 56 patients with cystic fibrosis
(CF) and 56 non-CF control subjects undergoing pancreatic function testing while stimulated …

The cystic fibrosis transmembrane conductance regulator

JR Riordan - Annual review of physiology, 1993 - annualreviews.org
Cystic fibrosis (CF) is a fatal genetic disease with an especially high incidence in Caucasian
populations, where it has a frequency of approximately one in 2500 live births (11). There is …

Mathematical multi-locus approaches to localizing complex human trait genes

J Hoh, J Ott - Nature Reviews Genetics, 2003 - nature.com
Statistical analysis methods for gene mapping originated in counting recombinant and non-
recombinant offspring, but have now progressed to sophisticated approaches for the …

Characterization of a panel of highly variable minisatellites cloned from human DNA

Z Wong, V Wilson, I Patel, S Povey… - Annals of human …, 1987 - Wiley Online Library
Five of the most variable loci detected in human DNA by hybridization with DNA fingerprint
probes have been cloned and characterized. Each locus consists of a tandem‐repetitive …

[HTML][HTML] Genetic studies of Crohn's disease: past, present and future

JZ Liu, CA Anderson - Best Practice & Research Clinical Gastroenterology, 2014 - Elsevier
The exact aetiology of Crohn's disease is unknown, though it is clear from early
epidemiological studies that a combination of genetic and environmental risk factors …

[图书][B] Handbook of computational molecular biology

S Aluru - 2005 - taylorfrancis.com
The enormous complexity of biological systems at the molecular level must be answered
with powerful computational methods. Computational biology is a young field, but has seen …

Reconciling antimicrobial susceptibility testing and clinical response in antimicrobial treatment of chronic cystic fibrosis lung infections

VJ Waters, TJ Kidd, R Canton… - Clinical Infectious …, 2019 - academic.oup.com
Median cystic fibrosis (CF) survival has increased dramatically over time due to several
factors, including greater availability and use of antimicrobial therapies. During the …