Cystic fibrosis mutation testing in Italy

Genetic Testing

Volumn 5, Issue 3, 2001, Pages 229-233

  Bombieri, Cristina ^a   Pignatti, Pier Franco ^a  

^a UNIVERSITY OF VERONA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; CLINICAL ARTICLE; CYSTIC FIBROSIS; DATA ANALYSIS; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; GENE FREQUENCY; GENE MUTATION; GENETIC SCREENING; GEOGRAPHIC DISTRIBUTION; HEALTH PROGRAM; HUMAN; ITALY; NEWBORN SCREENING;

CYSTIC FIBROSIS; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; ITALY; MUTATION; NEONATAL SCREENING; RISK ASSESSMENT;

EID: 0035692892     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/10906570152742281     Document Type: Article

References (17)

1. Analysis of the complete coding region of the CFTR gene in a cohort of CF patients from north-eastern Italy: Identification of 90% of the mutations
2. Carrier testing program in a high-risk cystic fibrosis population from north eastern Italy
3. Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens
4. Newborn screening strategy for cystic fibrosis: A field study in an area with high allelic heterogeneity
5. Bollettino dello screening neonatale per Fibrosi cistica. Acura del Servizio Clinico di Screening Neonatale per Fibrosi Cistica
6. Genetic testing and quality control in diagnostic laboratories
7. Recommendations for quality improvement in genetic testing for cystic fibrosis European concerted action on cystic fibrosis
8. Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
9. Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations
10. Analysis of a poly-T variant intron 8 of the CFTR gene in Italian patients with congenital bilateral absence of the vas deferens (CBAVD)
11. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening
12. Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis
13. Proportion of cystic fibrosis gene mutations not detected by routine testing in men with obstructive azoospermia
14. Nasal potential difference in congenital bilateral absence of vas deferens
15. Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution
16. Statement from the national institutes of health workshop on population screening for the cystic fibrosis gene