Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review

D Al‐Sadeq, T Abunada, R Dalloul, S Fahad… - …, 2019 - Wiley Online Library
Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the
CFTR gene, with various clinical manifestations that affect pulmonary, digestive, exocrine …

CFTR gene mutation spectrum among 735 Iranian patients with cystic fibrosis: A comprehensive systematic review

R Alibakhshi, A Mohammadi… - Pediatric …, 2021 - Wiley Online Library
In this study, the spectrum and frequency of cystic fibrosis transmembrane conductance
regulator (CFTR) gene mutations previously reported among Iranian cystic fibrosis (CF) …

Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul

E Atag, N Bas Ikizoglu, AP Ergenekon… - Pediatric …, 2019 - Wiley Online Library
Background Cystic fibrosis (CF) genotyping has garnered increased attention since the
discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989 …

The burden of cystic fibrosis in North Africa

N El Makhzen, H Daimi, L Bouguenouch… - Frontiers in genetics, 2024 - frontiersin.org
Background: Over 200 pathogenic variants in the cystic fibrosis transmembrane
conductance regulator (CFTR) gene are associated with cystic fibrosis (CF)—the most …

Demographic characteristics, clinical and laboratory features, and the distribution of pathogenic variants in the CFTR gene in the Cypriot cystic fibrosis (CF) …

PK Yiallouros, AΜ Matthaiou… - Orphanet Journal of …, 2021 - Springer
Background Specialized clinical care for cystic fibrosis (CF) in Cyprus, a small island
country, has been implemented since the 1990s. However, only recently, a national CF …

Molecular analysis of CFTR gene mutations among Iraqi cystic fibrosis patients

AG Abdul-Qadir, BM Al-Musawi, RF Thejeal… - Egyptian Journal of …, 2021 - Springer
Background Cystic fibrosis (CF) is an autosomal recessive multisystem disease that results
from mutation (s) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene …

A retrospective study of cases diagnosed with cystic fibrosis at a single care center in Syria

R Al-Baba, AB Zetoune - Egyptian Journal of Medical Human Genetics, 2021 - Springer
Background Although there is relatively much information about the status of cystic fibrosis
disease in different countries of the world, limited data are available on this disease among …

[HTML][HTML] Frecuencia de las mutaciones más comunes del gen CFTR en pacientes peruanos con fibrosis quística mediante la técnica ARMS-PCR

R Aquino, A Protzel, J Rivera, H Abarca… - Revista Peruana de …, 2017 - SciELO Public Health
Objetivos. Determinar la frecuencia de las diez mutaciones más comúnmente reportadas en
América Latina del gen CFTR mediante Sistema de Mutación Refractario a la amplificación …

Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs

S Hamouda, SH Fredj, S Hilioui, F Khalsi… - African Health …, 2020 - ajol.info
Aim: To establish a preliminary national report on clinical and genetic features of cystic
fibrosis (CF) in Tunisian children as a first measure for a better health care organization …

Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene mutations in North Egyptian population: implications for the genetic diagnosis in Egypt

A El-Seedy, MC Pasquet, H Shafiek, T Morsi… - Cellular and Molecular …, 2016 - cellmolbiol.org
Cystic fibrosis (CF) occurrence in Arab populations is not common and still remains
underidentified. Furthermore, the lack of disease awareness and diagnosis facilities have …