Epidemiology and Genetics of cystic fibrosis in a SIA: in preparation for the Next‐Generation treatments
Cystic fibrosis (CF) in the A sian population is less frequently reported due to under‐
diagnosis and lack of centralized CF patient registries. Clinical studies on CF cases from A …
diagnosis and lack of centralized CF patient registries. Clinical studies on CF cases from A …
[HTML][HTML] A comprehensive review of cystic fibrosis in Africa and Asia
Cystic fibrosis (CF) was earlier thought to be a disease prevalent in the West among
Caucasians. However, quite a number of recent studies have uncovered CF cases outside …
Caucasians. However, quite a number of recent studies have uncovered CF cases outside …
[HTML][HTML] A new targeted CFTR mutation panel based on next-generation sequencing technology
M Lucarelli, L Porcaro, A Biffignandi… - The Journal of Molecular …, 2017 - Elsevier
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene
(CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis …
(CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis …
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, 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) …
regulator (CFTR) gene mutations previously reported among Iranian cystic fibrosis (CF) …
[HTML][HTML] Comparison of refugee patients with cystic fibrosis and their counterpart children from Turkey during the war
Aİ Yılmaz, S Pekcan, TŞ Eyüboğlu, M Hangül… - European Journal of …, 2024 - Springer
Since the outbreak of the Syrian civil war in 2011, the population of Arab refugees in Turkey
has rapidly increased. While cystic fibrosis (CF) is believed to be rare among Arabs, recent …
has rapidly increased. While cystic fibrosis (CF) is believed to be rare among Arabs, recent …
Founder variants and population genomes—Toward precision medicine
Human migration and community specific cultural practices have contributed to founder
events and enrichment of the variants associated with genetic diseases. While many founder …
events and enrichment of the variants associated with genetic diseases. While many founder …
Neglected Children with Cystic Fibrosis due to War (Turkey Profile of Refugee Patients)
Aİ Yılmaz, S Pekcan, TŞ Eyüboğlu, M Hangül, H Aslan… - 2023 - researchsquare.com
Introduction: Since the outbreak of the Syrian civil war in 2011, the population of Arab
refugees in Turkey has rapidly increased. While cystic fibrosis (CF) is believed to be rare …
refugees in Turkey has rapidly increased. While cystic fibrosis (CF) is believed to be rare …
[HTML][HTML] Novel CFTR mutations in two Iranian families with severe cystic fibrosis
M Mohseni, M Razzaghmanesh, EP Mehr… - Iranian biomedical …, 2016 - ncbi.nlm.nih.gov
Background: Cystic fibrosis (CF) is a common autosomal recessive disorder that affects
many body systems and is produced by mutations in the cystic fibrosis transmembrane …
many body systems and is produced by mutations in the cystic fibrosis transmembrane …
Grandes deleções raras no CFTR: uma série de casos
LM Petry, L de Casto, LK Grun… - Scientia …, 2023 - revistaseletronicas.pucrs.br
Objetivo: este trabalho tem como objetivo descrever o diagnóstico e o acompanhamento de
pacientes acometidos pelas manifestações da fibrose cística e grandes deleções do gene …
pacientes acometidos pelas manifestações da fibrose cística e grandes deleções do gene …