Determination of Cystic Fibrosis Mutation Frequency in Preterm and Term Neonates with Respiratory Tract Problems
By: S Tanriverdi, M Polat and H Onay
References
- Anderson DH. Cystic fibrosis of the pancreas. J Chronic Dis. 1958; 7(1): 58–90.
- Tuğ E, Tuğ T. Cystic fibrosis and molecular-genetic approaches. Turk Thorac J. 2003; 4(2): 198–204.
- De Boeck K, Wilschanski M, Castellani C, Taylor C, Cuppens H, Dodge J, et al. Cystic fibrosis: Terminology and diagnostic algorithms. Thorax. 2006; 61(7): 627–635.
- Farrell PM, White TB, Ren CL, Hempstead SE, Accurso F, Derichs N, et al. Diagnosis of Cystic fibrosis: Consensus guidelines from the Cystic Fibrosis Foundation. J Pediatr. 2017; 181S: S4–S15.e1
- Kharrazi M, Yang J, Bishop T, Lessing S, Young S, Graham S, et al. Newborn screening for cystic fibrosis in California. Pediatrics. 2015; 136(6): 1062–1072.
- Gibson RL, Burns JL, Ramsey BW. Pathophysiology and management of pulmonary infections in cystic fibrosis. Am J Respir Crit Care Med. 2003; 168(8): 918–951.
- Collins FS. Cystic fibrosis: Molecular biology and therapeutic implications. Science. 1992; 256(5058): 774–779.
- Drumm ML, Collins FS. Molecular biology of cystic fibrosis. Mol Genet Med. 1993; 3: 33–68.
- Bear CE, Li CH, Kartner N, Bridges RJ, Jensen TJ, Ramjeesingh M, et al. Purification and functional reconstitution of the cystic fibrosis transmembrane conductance regulator (CFTR). Cell. 1992; 68(4): 809–818.
- Guggino WB, Banks-Schlegel SP. Macromolecular interactions and ion transport in cystic fibrosis. Am J Respir Crit Care Med. 2004; 170(7): 815–820.
- Johnson LG, Boyles SE, Wilson J, Boucher RC. Normalization of raised sodium absorption and raised calcium-mediated chloride secretion by adenovirus-mediated expression of cystic fibrosis transmembrane conductance regulator in primary human cystic fibrosis airway epithelial cells. J Clin Invest. 1995; 95(3): 1377–1382.
- Ratjen F, Döring G. Cystic fibrosis. Lancet. 2003; 361(9358): 681–689.
- Cutting GR. Cystic fibrosis genetics: From molecular understanding to clinical application. Nat Rev Genet. 2015; 16(1): 45–56.
- Moskowitz SM, Chmiel JF, Sternen DL, Cheng E, Gibson RL, Marshall SG, et al. Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders. Genet Med. 2008; 10(12): 851–868.
- Çolak Y, Nordestgaard BG, Afzal S. Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population. Eur Respir J. 2020; 56(3): 2000558.
- Boyle MP. Nonclassic cystic fibrosis and CFTR-related diseases. Curr Opin Pulm Med. 2003; 9(6): 498–503.
- Bombieri C, Claustres M, De Boeck K, Derichs N, Dodge J, Girodon E, et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cystic Fibrosis. 2011; 10(Suppl 2): S86–S102.
- Aznarez I, Bal J, Casals T, Estivill X, Moral N, Sands D, et al. Analysis of mutations in the CFTR gene in patients diagnosed with cystic fibrosis in Poland [Polish]. Med Wieku Rozwoj. 2000; 4(2): 149–159.
- Yoshimura K, Wakazono Y, Iizuka S, Morokawa N, Tada H, Eto Y. Japanese patient homozygous for the H1085R mutation in the CFTR gene presents with a severe form of cystic fibrosis. Clin Genet. 1999; 56(2): 173–175.
- Tzetis M, Kanavakis E, Antoniadi T, Traeger-Synodinos J, Doudounakis S, Adam G, et al. Identification of two novel mutations (296 + 1G-C and A46D) in exon 2 of the CFTR gene in Greek cystic fibrosis patients. Mol Cell Probes. 1995; 9(4): 283–285.
- Thauvin-Robinet C, Munck A, Huet F, Génin E, Bellis G, Gautier E, et al.; Collaborating Working Group on R117H. The very low penetrance of cystic fibrosis for the R117H mutation: A reappraisal for genetic counselling and newborn screening. J Med Genet. 2009; 46(11): 752–758.
DOI: https://doi.org/10.2478/bjmg-2021-0023 | Journal eISSN: 2199-5761
Language: English
Page range: 25 - 31
Published on: Jun 5, 2022
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
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© 2022 S Tanriverdi, M Polat, H Onay, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.