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Муковисцидоз: определение, диагностические критерии, терапия. Национальный консенсус - стр. 44

6. Pettit R.S., Fellner C. CFTR Modulators for the Treatment of Cystic Fibrosis. P&T®. 2014 Jul; 39 (7): 500-511.

7. Griesenbach U., Alton E.W. Recent advances in understanding and managing cystic fibrosis transmembrane conductance regulator dysfunction. F1000 Prime Rep. 2015 May 27; 7: 64. (http://f1000.com/prime/ reports/m/7/64).

8. Marson F.A., Bertuzzo C.S., Ribeiro J.D. Classification of CFTR mutation classes Lancet Respir Med. 2016 Aug; 4 (8): e37-8.

9. De Boek K., Amaral M.D. Progress in therapies for cystic fibrosis lancet Respir Med. 2016 Aug; 4 (8): 662-74.

10. Borowitz D., Durie P.R., Clarke L.L., et al. Gastrointestinal outcomes and confounders in cystic fibrosis. J. Pediatr. Gastroenterol. Nutr. 2005 Sep; 41 (3): 273-285.

11. Ahmed N., Corey M., Forstner G. et al. Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas. Gut. 2003 Aug; 52 (8): 1159-1164.

12. Koch C., Cuppens H., Rainisio M., et al. European Epidemiologic Registry of Cystic Fibrosis (ERCF): comparison of major disease manifestations between patients with different classes of mutations. Pediatr Pulmonol. 2001 Jan; 31 (1): 1-12.

13. Koch C. Early Infection and Progression of Cystic Fibrosis Lung Disease. Pediatr Pulmonol. 2002 Sep; 34 (3): 232-236.

14. Smyth A.R., Bell S.C., Bojcin S. et al. European Cystic Fibrosis Society Standards of Care: Best Practice guidelines. J. Cyst. Fibros. 2014 May; 13 Suppl. 1: S23-42.

15. http://www.cftr2.org

16. Richards S., Aziz N., Bale S., et al. 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. Genet Med. 2015. May; 17 (5): 405-424.

17. Wallis Y., Payne S., McAnulty C., et al. Practice Guideline for the Evaluation of Pathogenicity and the Reporting of Sequence Variants in Clinical Molecular Genetics. Available at https://www.acgs.uk.com

18. Clinical Genomics. A Guide to Clinical Next Generation Sequencing. Edited by S. Kulkarni, J. Pfeifer. Elsevier Inc., Academic Press, London, UK, 2015, p. 470. ISBN: 978-0-12-404748-8.

19. Quintáns B., Ordóñez-Ugalde A., Cacheiro P., et al. Carracedo, A., Sobrido, M.J. Medical genomics: The intricate path from genetic variant identification to clinical interpretation. Appl. Transl. Genom. 2014 Jun 16; 3 (3): 60-67.

20. Kerem E., Conway S., Elborn S., Heijerman H. Standards of care for patients with cystic fibrosis:a European consensus. J. Cyst. Fibros. 2005 Mar; 4 (1): 7-26.

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