Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings

키워드

참고문헌 (42)

1. Lucas JS, "Primary ciliary dyskinesia in the genomics age", Lancet Respir Med, 8, pp.202~216 (2020)
2. Kuehni CE, "Factors influencing age at diagnosis of primary ciliary dyskinesia in European children", Eur Respir J, 36, pp.1248~1258 (2010)
3. Mirra V, "Primary ciliary dyskinesia : an update on clinical aspects, genetics, diagnosis, and future treatment strategies", Front Pediatr, 5, pp.135~ (2017)
4. Lucas JS, "Diagnosis and management of primary ciliary dyskinesia", Arch Dis Child, 99, pp.850~856 (2014)
5. Rubbo B, "Clinical care for primary ciliary dyskinesia : current challenges and future directions", Eur Respir Rev, 26, pp.170023~ (2017)
6. Ioannou P, "Health related quality of life in adult primary ciliary dyskinesia patients in Cyprus : development and validation of the Greek version of the QOL-PCD questionnaire", Health Qual Life Outcomes, 18, pp.105~ (2020)
7. Behan L, "PICADAR : a diagnostic predictive tool for primary ciliary dyskinesia", Eur Respir J, 47, pp.1103~1112 (2016)
8. Shamseldin HE, "An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia", Hum Genet, 139, pp.1273~1283 (2020)
9. Baz-Redón N, "Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia", Arch Bronconeumol(Engl Ed), 57, pp.186~194 (2021)
10. Shapiro AJ, "Diagnosis, monitoring, and treatment of primary ciliary dyskinesia : PCD foundation consensus recommendations based on state of the art review", Pediatr Pulmonol, 51, pp.115~132 (2016)
11. Shapiro AJ, "Diagnosis of primary ciliary dyskinesia. An official American Thoracic Society clinical practice guideline", Am J Respir Crit Care Med, 197, pp.e24~e39 (2018)
12. Yiallouros PK, "Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus : an island with a high disease prevalence", Hum Mutat, 42, pp.e62~e77 (2021)
13. Guan Y, "Clinical and genetic spectrum of children with primary ciliary dyskinesia in China", Chest, 159, pp.1768~1781 (2021)
14. Alzaid M, "Clinical and molecular characteristics of primary ciliary dyskinesia : a tertiary care centre experience", Int J Pediatr Adolesc Med, 8, pp.258~263 (2021)
15. Lucas JS, "European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia", Eur Respir J, 49, pp.1601090~ (2017)
16. Omoyinmi E, "Brief report : whole-exome sequencing revealing somatic NLRP3 mosaicism in a patient with chronic infantile neurologic, cutaneous, articular syndrome", Arthritis Rheumatol, 66, pp.197~202 (2014)
17. Richards S, "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, 17, pp.405~424 (2015)
18. Marshall CR, "Whole-exome sequencing and targeted copy number analysis in primary ciliary dyskinesia", G3(Bethesda), 5, pp.1775~1781 (2015)
19. Shoemark A, "International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia(BEAT PCD TEM criteria)", Eur Respir J, 55, pp.1900725~ (2020)
20. Kim MJ, "Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia", J Hum Genet, 68, pp.369~374 (2023)
21. Boon M, "MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia", Nat Commun, 5, pp.4418~ (2014)
22. Xia H, "DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease", PLoS One, 16, pp.e0252786~ (2021)
23. Hornef N, "DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects", Am J Respir Crit Care Med, 174, pp.120~126 (2006)
24. Takeuchi K, "A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia", Auris Nasus Larynx, 45, pp.585~591 (2018)
25. Cho EH, "Genetic analysis of Korean adult patients with nontuberculous mycobacteria suspected of primary ciliary dyskinesia using whole exome sequencing", Yonsei Med J, 62, pp.224~230 (2021)
26. Emiraliog˘lu N, "Genotype and phenotype evaluation of patients with primary ciliary dyskinesia : first results from Turkey", Pediatr Pulmonol, 55, pp.383~393 (2020)
27. Fassad MR, "Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort", J Med Genet, 57, pp.322~330 (2020)
28. Boaretto F, "Diagnosis of primary ciliary dyskinesia by a targeted next-generation sequencing panel : molecular and clinical findings in Italian patients", J Mol Diagn, 18, pp.912~922 (2016)
29. Knowles MR, "Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease", Am J Respir Crit Care Med, 188, pp.913~922 (2013)
30. Antony D, "Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms", Hum Mutat, 34, pp.462~472 (2013)
31. Fassad MR, "Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia", Clin Genet, 97, pp.509~515 (2020)
32. Paff T, "Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients", Hum Mutat, 39, pp.653~665 (2018)
33. Demir Eksi D, "Novel gene variants associated with primary ciliary dyskinesia", Indian J Pediatr, 89, pp.682~691 (2022)
34. Keicho N, "Genetic predisposition to diffuse panbronchiolitis", Respirology, 16, pp.581~588 (2011)
35. Morimoto K, "Recurring large deletion in DRC1(CCDC164)identified as causing primary ciliary dyskinesia in two Asian patients", Mol Genet Genomic Med, 7, pp.e838~ (2019)
36. Takeuchi K, "Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population", Mol Genet Genomic Med, 8, pp.e1137~ (2020)
37. Lei C, "DRC1 deficiency caused primary ciliary dyskinesia and MMAF in a Chinese patient", J Hum Genet, 67, pp.197~201 (2022)
38. Shapiro AJ, "Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine : genetic defects with normal and non-diagnostic ciliary ultrastructure", Ultrastruct Pathol, 41, pp.373~385 (2017)
39. Kano G, "Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia", Mol Med Rep, 14, pp.5077~5083 (2016)
40. Amirav I, "Systematic analysis of CCNO variants in a defined population : implications for clinical phenotype and differential diagnosis", Hum Mutat, 37, pp.396~405 (2016)
41. Benjamin AT, "Primary ciliary dyskinesia due to DRC1", CCDC164 gene mutation, 2020, pp.37, 179~180
42. Keicho N, "Primary ciliary dyskinesia caused by a large homozygous deletion including exons 1-4 of DRC1 in Japanese patients with recurrent sinopulmonary infection", Mol Genet Genomic Med, 8, pp.e1033~ (2020)

관련 논문AI추천