The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis
A Bergougnoux, M Lopez, E Girodon - International journal of neonatal …, 2020 - mdpi.com
There has been considerable progress in the implementation of newborn screening (NBS)
programs for cystic fibrosis (CF), with DNA analysis being part of an increasing number of …
programs for cystic fibrosis (CF), with DNA analysis being part of an increasing number of …
Evaluation of specificity and sensitivity of IRT/IRT protocol in the cystic fibrosis newborn screening program: 6-year experience of three tertiary centers
T Ramasli Gursoy, P Asfuroglu… - European Journal of …, 2023 - Springer
We aimed to evaluate cutoff values of immunoreactive trypsinogen (IRT)/IRT and determine
relationship between IRT values and clinical characteristics of children with cystic fibrosis …
relationship between IRT values and clinical characteristics of children with cystic fibrosis …
[PDF][PDF] Investigating CFTR gene variations in patient groups with positive newborn screening test results and preliminary clinical diagnosis of cystic fibrosis in the …
A Turkyilmaz, O Yarali - Medicine Science, 2021 - researchgate.net
Abstract Cystic fibrosis (CF, OMIM:# 219700), caused by biallelic pathogenic variations in
the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is the most common …
the cystic fibrosis transmembrane conductance regulator (CFTR) gene, is the most common …