Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma.
EY Lee, WH Lee - Proceedings of the National Academy of …, 1986 - National Acad Sciences
Retinoblastoma, the most common intraocular tumor, represents one of the prototypes of
inheritable cancers. To elucidate the mechanisms that give rise to this tumor, the …
inheritable cancers. To elucidate the mechanisms that give rise to this tumor, the …
Microdissection of and microcloning from the short arm of human chromosome 2
GP Bates, BJ Wainwright, R Williamson… - Molecular and cellular …, 1986 - Taylor & Francis
A bank of cloned DNA sequences from the distal half of the short arm of human chromosome
2 was generated by using microdissection and microcloning techniques. DNA was purified …
2 was generated by using microdissection and microcloning techniques. DNA was purified …
Tratamiento antimicrobiano frente a la colonización pulmonar por Pseudomonas aeruginosa en el paciente con fibrosis quística
La fibrosis quística (FQ) es una enfermedad genética autosómica recesiva. Se produce
como consecuencia de la alteración del gen CFTR (cystic fibrosis transmembrane …
como consecuencia de la alteración del gen CFTR (cystic fibrosis transmembrane …
The genetic analysis of human behavior: a new era?
PR Billings, J Beckwith, JS Alper - Social science & medicine, 1992 - Elsevier
Recent developments in DNA-based techniques may revolutionize the study of human
behavioral genetics. However, unless these methods are used with great care, many of the …
behavioral genetics. However, unless these methods are used with great care, many of the …
Apoptotic process in cystic fibrosis cells
R Soleti, C Porro, MC Martínez - Apoptosis, 2013 - Springer
Cystic fibrosis (CF) is a recessively inherited disease caused by genetic lesions in CF
transmembrane conductance regulator (CFTR) gene. CF is characterized by exaggerated …
transmembrane conductance regulator (CFTR) gene. CF is characterized by exaggerated …
[HTML][HTML] A multi-threaded approach to genotype pattern mining for detecting digenic disease genes
To locate disease-causing DNA variants on the human gene map, the customary approach
has been to carry out a genome-wide association study for one variant after another by …
has been to carry out a genome-wide association study for one variant after another by …
Physiological Impact of Abnormal Lipoxin A4 Production on Cystic Fibrosis Airway Epithelium and Therapeutic Potential
G Higgins, F Ringholz, P Buchanan… - BioMed Research …, 2015 - Wiley Online Library
Lipoxin A4 has been described as a major signal for the resolution of inflammation and is
abnormally produced in the lungs of patients with cystic fibrosis (CF). In CF, the loss of …
abnormally produced in the lungs of patients with cystic fibrosis (CF). In CF, the loss of …
Leveraging epidemiologic and clinical collections for genomic studies of complex traits
DC Crawford, R Goodloe, E Farber-Eger, J Boston… - Human Heredity, 2015 - karger.com
Abstract Background/Aims: Present-day limited resources demand DNA and phenotyping
alternatives to the traditional prospective population-based epidemiologic collections …
alternatives to the traditional prospective population-based epidemiologic collections …
[HTML][HTML] Cost effectiveness of newborn screening for cystic fibrosis: A simulation study
Background Early detection of cystic fibrosis (CF) by newborn screening (NBS) reduces the
rate of avoidable complications. NBS protocols vary by jurisdiction and the cost effectiveness …
rate of avoidable complications. NBS protocols vary by jurisdiction and the cost effectiveness …
The sociology of entrenchment: a cystic fibrosis test for everyone?
L Koch, D Stemerding - Social Science & Medicine, 1994 - Elsevier
In this article we introduce the notion of entrenchment to conceptualize the processes in
which new technological options, through the interactions between a variety of actors …
which new technological options, through the interactions between a variety of actors …