Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul-Reference-Cited by-同舟云学术

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

Published:2019-04-02 Issue:6 Volume:54 Page:743-750
ISSN:8755-6863
Container-title:Pediatric Pulmonology
language:en
Short-container-title:Pediatric Pulmonology

Author:

Atag Emine¹^ORCID,Bas Ikizoglu Nilay¹^ORCID,Ergenekon Almala Pinar¹,Gokdemir Yasemin¹,Eralp Ela Erdem¹,Ata Pinar²,Ersu Refika¹,Karakoc Fazilet¹,Karadag Bulent¹

Affiliation:

1. Division of Pediatric PulmonologyFaculty of Medicine, Marmara UniversityIstanbul Turkey

2. Department of Medical GeneticsSchool of Medicine, Marmara UniversityIstanbul Turkey

Publisher

Wiley

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ppul.24299

Reference29 articles.

1. Cystic fibrosis

2. Other risk factors associated with mortality in moderate and severe cystic fibrosis patients;Gokdemir Y;Turk Arch Ped,2012

3. Cystic Fibrosis Foundation. Patient Registry 2015 Annual Data Report.https://www.cff.org/Our‐Research/CF‐Patient‐Registry/2015. Accessed March 12 2018

4. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

5. Analysis of the CFTR gene in Iranian cystic fibrosis patients: Identification of eight novel mutations

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Beyond the 10%: Unraveling the genetic diversity in Turkish cystic fibrosis patients not eligible for CFTR modulators;Pediatric Pulmonology;2024-07-19

2. Exploring the diversity of CFTR gene mutations in cystic fibrosis individuals of South Asia;Journal of Asthma;2023-12-28

3. Identification of cystic fibrosis transmembrane conductance regulator gene (CFTR) variants;Saudi Medical Journal;2023-09-30

4. Pancreatic Insufficiency in a Child with p.Gly542* and c.2657+5G>A Heterozygote CFTR: A Case Report;Clinical Medicine & Research;2022-02-07

5. Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report;Respiratory Medicine Case Reports;2022