Neonatal screening for cystic fibrosis;Cribado neonatal de fibrosis quística

Anales Espanoles de Pediatria

Volumn 57, Issue 1, 2002, Pages 60-65

  Telleria Orriols J J ^a   Alonso Ramos, M J ^a   Garrote Adrados, J A ^a   Fernandez Carvajal I ^a   Blanco Quiros A ^a  

^a UNIVERSITY OF VALLADOLID   (Spain)

Author keywords

CFTR; Cystic fibrosis; Genetic mutations; Immunoreactive trypsinogen; Neonatal screening; Newborn

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR; TRYPSINOGEN;

ARTICLE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; CYSTIC FIBROSIS; DIAGNOSTIC ACCURACY; EXON; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; IMMUNOREACTIVITY; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; SCREENING TEST; SPAIN; SWEAT TEST;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DNA MUTATIONAL ANALYSIS; HUMANS; INCIDENCE; INFANT, NEWBORN; NEONATAL SCREENING; POINT MUTATION; TRYPSINOGEN;

EID: 0036330658     PISSN: 03024342     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (26)

1. High heterogeneity for cystic fibrosis in Spanish families: 75 Mutations account for 90% of chromosomes
2. Cystic fibrosis in Asturias: An elevated frequency of the deltaF508 mutation
3. Why screen for cystic fibrosis? A clinicians view
4. Newborn screening for cystic fibrosis: Its evolution and a review of the current situation
5. Dried blood spot screening for cystic fibrosis in the newborn
6. The pancreatitis-associated protein (PAP). A new candidate for neonatal screening of cystic fibrosis
7. Newborn screening for cystic fibrosis in Wisconsin: First application of population-based molecular genetics testing
8. Newborn screening for cystic fibrosis in Wisconsin: Comparison of biochemical and molecular methods
9. Cystic fibrosis screening in neonates-measurement of immunoreactive trypsin and direct genotype analysis for delta F508 mutation
10. Recommendations for quality improvement in genetic testing for cystic fibrosis
11. Spectrum of CFTR mutations in the Middle-North of Spain and identification of a novel mutation (1341 G → A). Mutation in Brief no. 252 Online
12. Chelex 100 as a medium for simple extraction of DNA for PCR-based typing from forensic material
13. Cystic fibrosis mutations in heterozygous newborns with hypertrypsinemia and low sweat chloride
14. Requirements for assesing possible benefits of screening: Fundamental problems of comparing screened and unscreened groups of cystic fibrosis patients
15. Survival and clinical outcome in patients with cystic fibrosis, with or without neonatal screening
16. Long term prognosis of patients with cystic fibrosis in relation to early detection by neonatal screening and treatment in a cystic fibrosis centre
17. Clinical outcomes of newborn screening for cystic fibrosis
18. Nutritional benefits of neonatal screening for cystic fibrosis
19. Neonatal screening for cystic fibrosis in Wales and the West Midlands: Clinical assessment after five years of screening
20. Neonatal screening for cystic fibrosis in France: Possible reduced morbidity in detected patients
21. Neonatal screening for cystic fibrosis
22. Reproductive decissions after neonatal screening identifies cystic fibrosis
23. Diagnóstico de la fibrosis quística
24. Protocolo de diagnóstico y seguimiento de los enfermos con fibrosis quística
25. Geografic distribution and regional origin of 272 cystic fibrosis mutations in european populations