Specific and rapid detection by fluorescent in situ hybridization of bacteria in clinical samples obtained from cystic fibrosis patients
M Hogardt, K Trebesius, AM Geiger… - Journal of clinical …, 2000 - Am Soc Microbiol
We report on the rapid and specific detection of bacteria commonly isolated from clinical
specimens from cystic fibrosis (CF) patients by fluorescent in situ hybridization (FISH). On …
specimens from cystic fibrosis (CF) patients by fluorescent in situ hybridization (FISH). On …
Construction of a general human chromosome jumping library, with application to cystic fibrosis
FS Collins, ML Drumm, JL Cole, WK Lockwood… - Science, 1987 - science.org
In many genetic disorders, the responsible gene and its protein product are unknown. The
technique known as" reverse genetics," in which chromosomal map positions and …
technique known as" reverse genetics," in which chromosomal map positions and …
Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe …
T Shoshani, A Augarten, E Gazit, N Bashan… - American journal of …, 1992 - ncbi.nlm.nih.gov
Only about 30% of the cystic fibrosis chromosomes in the Israeli cystic fibrosis patient
populations carry the major CF mutation (ΔF508). Since different Jewish ethnic groups …
populations carry the major CF mutation (ΔF508). Since different Jewish ethnic groups …
Mapping complex genetic traits in humans: new methods using a complete RFLP linkage map
ES Lander, D Botstein - Cold Spring Harbor Symposia on …, 1986 - symposium.cshlp.org
It has been clear since the rediscovery of Mendel that humans obey laws of heredity
identical with those of other organisms. The central features of Mendelism were observable …
identical with those of other organisms. The central features of Mendelism were observable …
[HTML][HTML] Variant Cystic Fibrosis Phenotypes in the Absence of CFTR Mutations
JD Groman, ME Meyer, RW Wilmott… - … England Journal of …, 2002 - Mass Medical Soc
Background Cystic fibrosis is a life-limiting autosomal recessive disorder with a highly
variable clinical presentation. The classic form involves characteristic findings in the …
variable clinical presentation. The classic form involves characteristic findings in the …
Conflict of laws in aircraft securitisation: jurisdictional and material aspects of the 1998 Unidroit Reform Project relating to aircraft equipment.
JA Krupski - 2001 - library-archives.canada.ca
Abstract In June 1998, a Steering and Revisions Committee of the International Institute for
the Unification of Private Law (Unidroit) fleshed out the final version of a" Draft Unidroit …
the Unification of Private Law (Unidroit) fleshed out the final version of a" Draft Unidroit …
Paraoxonase genes and disease
RA Hegele - Annals of Medicine, 1999 - Taylor & Francis
The paraoxonase gene family contains at least three members, including PON1, PON2 and
PON3, which are located on chromosome 7q21. 3-22.1. Until recently, there has been little …
PON3, which are located on chromosome 7q21. 3-22.1. Until recently, there has been little …
[图书][B] Genetic variation and human disease: principles and evolutionary approaches
KM Weiss - 1993 - books.google.com
Recent developments in molecular and statistical methods have made it possible to identify
the genetic basis of any biological trait and have given rise to spectacular advances in the …
the genetic basis of any biological trait and have given rise to spectacular advances in the …
The cystic fibrosis gene: a molecular genetic perspective
LC Tsui, R Dorfman - Cold Spring Harbor …, 2013 - perspectivesinmedicine.cshlp.org
The positional cloning of the gene responsible for cystic fibrosis (CF) was the important first
step in understanding the basic defect and pathophysiology of the disease. This study aims …
step in understanding the basic defect and pathophysiology of the disease. This study aims …
Treatment of cystic fibrosis: from gene-to cell-based therapies
Prognosis of patients with cystic fibrosis (CF) varies extensively despite recent advances in
targeted therapies that improve CF transmembrane conductance regulator (CFTR) function …
targeted therapies that improve CF transmembrane conductance regulator (CFTR) function …