Audrezet M.P., Dabricot A., Le Marechal C., Ferec C. Validation of high-resolution DNA melting analysis for mutation scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene // J. Mol. Diag. 2008. 10. 424-434.
Bareil C., Guittard C., Altieri J.P., Templin C., Claustres M., des Georges M. Comprehensive and rapid genotyping of mutations and haplotypes in congenital bilateral absence of vas deferens and other cystic fibrosis transmembrane conductance regulator-related disorders // J. Mol. Diagn. 9. (5). 582–588.
Castellani C. CFTR2: how will it help care? // Paediatr. Respir. Rev. 2013. 14. 2–5.
Chambliss A.B., Resnick M., Petrides A.K., Clarke W.A., Marzinke M.A. Rapid screening for targeted genetic variants via high-resolution melting curve analysis // Clin. Chem. Lab. Med. 2017. 55. (4). 507-516.
Chou L., Lyon E., Wittwer C.T. A comparison of high-resolution melting analysis with denaturing high-performance liquid chromatography for mutation scanning: cystic fibrosis transmembrane conductance regulator gene as a model // Am. J. Clin. Pathol. 2005. 124. (3). 330–338.
Cohen T.S., Prince A. Cystic fibrosis: a mucosal immunodeficiency syndrome // Nat. Med. 2012. 18. (4). 509-19.
Cooper G.M., Shendure J. Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data // Nat. Rev. Genet. 2011. 12. 628–640.
Fanen P., Wohlhuter-Haddad A., Hinzpetera A. Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies // Int. J. Biochem. Cell Biol. 2014. 52. 94–102.
Farrell P.M., White T.B., Ren C.L., Hempstead S.E., Accurso F., Derichs N., Howenstine M. Diagnosis of cystic fibrosis: consensus guidelines from the cystic fibrosis foundation // J. Pediatr. 2017. 181. 4–15.
Gonzalez-Bosquet J., Calcei J., Wei J.S., Garcia-Closas M., Sherman M.E., Hewitt S., Vockley J., Lissowska J., Yang H.P., Khan J., Chanock S. Detection of somatic mutations by high-resolution DNA melting (HRM) analysis in multiple cancers // PLoS One. 2011. 6. (1). e14522.
Herrmann M.G., Durtschi J.D., Bromley L.K., Wittwer C.T., Voelkerding K.V. Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes // Clin. Chem. 2006. 52. (3). 494-503.
Kerem B., Rommens J.M., Buchanan J.A., Markiewicz D., Cox T.K., Chakravarti A., Buchwald M., Tsui L.C. Identification of the cystic fibrosis gene: genetic analysis // Science. 1989. 245. (4922). 1073-1080.
Krasovskiy S.A., Kashirskaya N.YU., Chernyak A.V., Amelina E.L., Petrova N.V., Polyakov A.V., Kondrat'yeva E.I., Voronkova A.Yu., Usacheva M.V., Adyan T.A., Stepanova A.A., Alimova I.L., Asherova I.K., Baykova G.V., Basilaya A.V., Boytsova E.V., Borisov A.V., Brisin V.Yu., Vasil'yeva E.A., Vasil'yeva T.G., Vodovozova E.V., Voronin S.V., Gaymolenko I.N., Golubtsova O.I., Gorinova Yu.V., Nazarenko L.P., Odinokova O.N., Gembitskaya T.E., Nikonova V.S., D'yachkova A.A., Sergiyenko D.F., Yenina E.A., Yerzutova M.V., Zinchenko Yu.S., Zonenko O.G., Ivanova D.M., Il'yenkova N.A., Kadyrova D.V. Genetic characteristics of patients with cystic fibrosis in the Russian Federation according to the National register (2014). Pul'monologiya = Pulmonology. 2016. 26. (2). 133-151. [In Russian].
Li B.S., Wang X.Y., Ma F.L., Jiang B., Song X.X., Xu A.G. Is high resolution melting analysis (HRMA) accurate for detection of human disease-associated mutations? A meta analysis // PLoS One. 2011. 6. (12). е28078.
Liew M., Pryor R., Palais R., Meadows C., Erali M., Lyon E., Wittwer C. Genotyping of single-nucleotide polymorphisms by high-resolution melting of small amplicons // Clin. Chem. 2004. 50. (7). 1156-6417.
Lim R.M., Silver A.J., Silver M.J., Borroto C., Spurrier B., Petrossian T.C., Larson J.L., Silver L.M. Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk // Genet .Med. 2016. 18. (2). 174-9.
Montgomery J., Wittwer C.T., Kent J., Zhou L. Scanning the cystic fibrosis transmembrane conductance regulator gene using high-resolution DNA melting Analysis // Clin. Chem. 2007. 53. (11). 1891–1898.
Montgomery J.L., Sanford L.N., Wittwer C.T. High-resolution DNA melting analysis in clinical research and diagnostics // Expert Rev. Mol. Diagn. 2010. 10. (2). 219-40.
National consensus "Сystic Fibrosis: definition, diagnostic criteria, therapy" / Eds. E.I. Kondratyeva, N.Yu. Kashirskaya, N.I. Kapranov. Moscow: Kompaniya BORGES, 2016., 205 p. [In Russian].
Pagin А., Devos А., Figeac М., Truant М., Willoquaux Сh., Broly F., Lalau G.. Applicability and efficiency of NGS in routine diagnosis: In-depth performance analysis of a complete workflow for CFTR mutation analysis // PLoS One. 2016. 11. (2). e014942620.
Population variation of common cystic fibrosis mutations. The Cystic Fibrosis Genetic Analysis Consortium // Hum. Mutat. 1994. 4. 167-177.
Pryor R.J., Myrick J.T., Palais R.A., Sundberg S.O., Paek J.Y., Wittwer C.T., Knight I.T. High-speed melting analysis: The effect of melting rate on small amplicon microfluidic genotyping // Clin. Chem. 2017. 63. (10). 1624-1632.
Rebrova O.Yu. Statistical analysis of medical data. Application of software package STATISTICA. Moscow: Media Sfera. 2002. 312 p. [In Russian].
Singh R.R., Bains A., Patel K.P., Rahimi H., Barkoh B.A., Paladugu A. Detection of high-frequency and novel DNMT3A mutations in acute myeloid leukemia by high-resolution melting curve analysis // J. Mol. Diagn. 2012. 14. 336–345.
Soldatov A.A., Avdeyeva Zh.I., Alpatova N.A., Olefir Yu.V., Bondarev V.P., Lysikova S.L. Orphan preparations for the treatment of rare disease // Sibirskiy nauchnyy meditsinskiy zhurnal = The Siberian Scientific Medical Journal. 2017. (2). 27-35. [In Russian].
Sosnay P.R., Salinas D.B., White T.B., Ren C.L., Farrell P.M., Raraigh K.S., Girodon E., Castellani C. Applying cystic fibrosis transmembrane conductance regulator genetics and CFTR2 data to facilitate diagnoses // J. Pediatr. 2017. 181. 27-S32.
Svensson A.M. Detection of large rearrangements in the cystic fibrosis transmembrane conductance regulator gene by multiplex ligation-dependent probe amplification assay when sequencing fails to detect two disease-causing mutations // Genet. Test. Mol. Biomarkers. 2010. 14. 171-174.
Vandersteen J., Bayrak-Toydemir P., Palais R., Wittwer C.T. Identifying common genetic variants by high-resolution melting // Clin. Chem. 2007. 53. (7). 1191–1198.
Wittwer C.T., Reed G.H., Gundry C.N., Vandersteen J.G., Pryor R.J. High-resolution genotyping by amplicon melting analysis using LCGreen // Clin. Chem. 2003. 49. 853-860.