Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program-Reference-Cited by-同舟云学术

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Preconceptional identification of cystic fibrosis carriers in the Sardinian population: A pilot screening program

Published:2011-05 Issue:3 Volume:10 Page:207-211
ISSN:1569-1993
Container-title:Journal of Cystic Fibrosis
language:en
Short-container-title:Journal of Cystic Fibrosis

Author:

Coiana Alessandra,Faa' Valeria,Carta Daniela,Puddu Rosalba,Cao Antonio,Rosatelli Maria Cristina

Funder

Italian Cystic Fibrosis Research Foundation

Publisher

Elsevier BV

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology, and Child Health

Reference18 articles.

1. Prevention of homozygous β-thalassemia by carrier screening and prenatal diagnosis in Sardinia;Cao;Am J Hum Genet,1981

2. Approaches to the control and prevention of Tay–Sachs disease;Kaback;Prog Med Genet,1974

3. Genetic testing for cystic fibrosis;NIH Consensus Statement;Arch Intern Med,1999

4. Subcommittee on Cystic Fibrosis Screening, Accreditation of Genetic Service Committee, ACMG American College of Medical Genetics. Laboratory standards and guidelines for population-based cystic fibrosis carrier screening;Grody;Genet Med,2001

5. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel;Watson;Genet Med,2004

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1. Prospects for preconception genetic screening at the pregnancy planning stage;Journal of obstetrics and women's diseases;2023-12-15

2. Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set;Genetics in Medicine;2022-01

3. A New Targeted CFTR Mutation Panel Based on Next-Generation Sequencing Technology;The Journal of Molecular Diagnostics;2017-09

4. A Clinical and Molecular Survey of 62 Cystic Fibrosis Patients from Umbria (Central Italy) Disclosing a High Frequency (2.4%) of the 2184insA Allele: Implications for Screening;Public Health Genomics;2016

5. Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study;Journal of Medical Case Reports;2014-10-10

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