相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。A global perpective an newborn screening for cystic fibroses
Anil Mehta
CURRENT OPINION IN PULMONARY MEDICINE (2007)
Linking evidence from health technology assessments to policy and decision making: The Alberta Model
Henry Z. Borowski et al.
INTERNATIONAL JOURNAL OF TECHNOLOGY ASSESSMENT IN HEALTH CARE (2007)
New York state cystic fibrosis consortium: The first 2.5 years of experience with cystic fibrosis newborn screening in an ethnically diverse population
Robert Giusti et al.
PEDIATRICS (2007)
Guidelines for implementation of cystic fibrosis newborn screening programs: Cystic Fibrosis Foundation workshop report
Anne Marie Comeau et al.
PEDIATRICS (2007)
Immunoreactive trypsin/DNA newborn screening for cystic fibrosis:: Should the R117H variant be included in CFTR mutation panels?
Virginie Scotet et al.
PEDIATRICS (2006)
Diagnostic dilemmas resulting from the immunoreactive trypsinogen/DNA cystic fibrosis newborn screening algorithm
RB Parad et al.
JOURNAL OF PEDIATRICS (2005)
Newborn screening for cystic fibrosis in Wisconsin: Nine-year experience with routine trypsinogen/DNA testing
MJ Rock et al.
JOURNAL OF PEDIATRICS (2005)
Cystic fibrosis: the French neonatal screening organization, preliminary results
A Munck et al.
ARCHIVES DE PEDIATRIE (2005)
Evaluation of the Quantase (TM) neonatal immunoreactive trypsinogen (IRT) screening assay for cystic fibrosis
CL Ball et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2005)
Cystic fibrosis screening: Lessons learned from the first 320,000 patients
CM Strom et al.
GENETICS IN MEDICINE (2004)
Extensive sequencing of the cystic fibrosis transmembrane regulator gene: Assay validation and unexpected benefits of developing a comprehensive test
CM Strom et al.
GENETICS IN MEDICINE (2003)
Cystic fibrosis: A worldwide analysis of CFTR mutations - Correlation with incidence data and application to screening
JL Bobadilla et al.
HUMAN MUTATION (2002)
Intron-8 polythymidine sequence in Australasian individuals with CF mutations R117H and R117C
RJH Massie et al.
EUROPEAN RESPIRATORY JOURNAL (2001)
Improved detection of cystic fibrosis mutations in the heterogeneous US population using an expanded, pan-ethnic mutation panel
RA Heim et al.
GENETICS IN MEDICINE (2001)