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For: Djakow J, Svobodová T, Hrach K, Uhlík J, Cinek O, Pohunek P. Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. Pediatr Pulmonol 2012;47:864-75. [PMID: 22416021 DOI: 10.1002/ppul.22520] [Cited by in Crossref: 23] [Cited by in F6Publishing: 22] [Article Influence: 2.3] [Reference Citation Analysis]
Number Citing Articles
1 Pereira R, Oliveira J, Ferraz L, Barros A, Santos R, Sousa M. Mutation analysis in patients with total sperm immotility. J Assist Reprod Genet 2015;32:893-902. [PMID: 25877373 DOI: 10.1007/s10815-015-0474-6] [Cited by in Crossref: 17] [Cited by in F6Publishing: 16] [Article Influence: 2.4] [Reference Citation Analysis]
2 Hannah WB, Seifert BA, Truty R, Zariwala MA, Ameel K, Zhao Y, Nykamp K, Gaston B. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. The Lancet Respiratory Medicine 2022;10:459-68. [DOI: 10.1016/s2213-2600(21)00453-7] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 4.0] [Reference Citation Analysis]
3 Kouis P, Yiallouros PK, Middleton N, Evans JS, Kyriacou K, Papatheodorou SI. Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis. Pediatr Res 2017;81:398-405. [DOI: 10.1038/pr.2016.263] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 4.0] [Reference Citation Analysis]
4 Wang Y, Tu C, Nie H, Meng L, Li D, Wang W, Zhang H, Lu G, Lin G, Tan YQ, Du J. Novel DNAAF6 variants identified by whole-exome sequencing cause male infertility and primary ciliary dyskinesia. J Assist Reprod Genet 2020;37:811-20. [PMID: 32170493 DOI: 10.1007/s10815-020-01735-4] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
5 Svobodová T, Djakow J, Zemková D, Cipra A, Pohunek P, Lebl J. Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia. Int J Endocrinol 2013;2013:731423. [PMID: 24454367 DOI: 10.1155/2013/731423] [Cited by in Crossref: 9] [Cited by in F6Publishing: 11] [Article Influence: 1.0] [Reference Citation Analysis]
6 Andjelkovic M, Minic P, Vreca M, Stojiljkovic M, Skakic A, Sovtic A, Rodic M, Skodric-Trifunovic V, Maric N, Visekruna J, Spasovski V, Pavlovic S. Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. PLoS One 2018;13:e0205422. [PMID: 30300419 DOI: 10.1371/journal.pone.0205422] [Cited by in Crossref: 16] [Cited by in F6Publishing: 12] [Article Influence: 4.0] [Reference Citation Analysis]
7 Takeuchi K, Kitano M, Kiyotoshi H, Ikegami K, Ogawa S, Ikejiri M, Nagao M, Fujisawa T, Nakatani K. A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia. Auris Nasus Larynx 2018;45:585-91. [PMID: 28939216 DOI: 10.1016/j.anl.2017.09.007] [Cited by in Crossref: 18] [Cited by in F6Publishing: 16] [Article Influence: 3.6] [Reference Citation Analysis]
8 Djakow J, Kramná L, Dušátková L, Uhlík J, Pursiheimo JP, Svobodová T, Pohunek P, Cinek O. An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia. Pediatr Pulmonol 2016;51:498-509. [PMID: 26228299 DOI: 10.1002/ppul.23261] [Cited by in Crossref: 17] [Cited by in F6Publishing: 15] [Article Influence: 2.4] [Reference Citation Analysis]
9 Fedick AM, Jalas C, Treff NR, Knowles MR, Zariwala MA. Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. Mol Genet Genomic Med 2015;3:137-42. [PMID: 25802884 DOI: 10.1002/mgg3.124] [Cited by in Crossref: 10] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
10 Wu UI, Holland SM. Host susceptibility to non-tuberculous mycobacterial infections. Lancet Infect Dis 2015;15:968-80. [PMID: 26049967 DOI: 10.1016/S1473-3099(15)00089-4] [Cited by in Crossref: 117] [Cited by in F6Publishing: 59] [Article Influence: 16.7] [Reference Citation Analysis]
11 Kano G, Tsujii H, Takeuchi K, Nakatani K, Ikejiri M, Ogawa S, Kubo H, Nagao M, Fujisawa T. Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia. Mol Med Rep 2016;14:5077-83. [PMID: 27779714 DOI: 10.3892/mmr.2016.5871] [Cited by in Crossref: 11] [Cited by in F6Publishing: 10] [Article Influence: 1.8] [Reference Citation Analysis]
12 Boaretto F, Snijders D, Salvoro C, Spalletta A, Mostacciuolo ML, Collura M, Cazzato S, Girosi D, Silvestri M, Rossi GA, Barbato A, Vazza G. Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. J Mol Diagn 2016;18:912-22. [PMID: 27637300 DOI: 10.1016/j.jmoldx.2016.07.002] [Cited by in Crossref: 27] [Cited by in F6Publishing: 25] [Article Influence: 4.5] [Reference Citation Analysis]
13 Lucas JS, Barbato A, Collins SA, Goutaki M, Behan L, Caudri D, Dell S, Eber E, Escudier E, Hirst RA, Hogg C, Jorissen M, Latzin P, Legendre M, Leigh MW, Midulla F, Nielsen KG, Omran H, Papon JF, Pohunek P, Redfern B, Rigau D, Rindlisbacher B, Santamaria F, Shoemark A, Snijders D, Tonia T, Titieni A, Walker WT, Werner C, Bush A, Kuehni CE. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J 2017;49:1601090. [PMID: 27836958 DOI: 10.1183/13993003.01090-2016] [Cited by in Crossref: 254] [Cited by in F6Publishing: 214] [Article Influence: 50.8] [Reference Citation Analysis]
14 Kim RH, A Hall D, Cutz E, Knowles MR, Nelligan KA, Nykamp K, Zariwala MA, Dell SD. The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. Ann Am Thorac Soc 2014;11:351-9. [PMID: 24498942 DOI: 10.1513/AnnalsATS.201306-194OC] [Cited by in Crossref: 38] [Cited by in F6Publishing: 18] [Article Influence: 4.8] [Reference Citation Analysis]
15 Xu X, Gong P, Wen J. Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. J Assist Reprod Genet 2017;34:275-81. [PMID: 27988889 DOI: 10.1007/s10815-016-0849-3] [Cited by in Crossref: 7] [Cited by in F6Publishing: 6] [Article Influence: 1.2] [Reference Citation Analysis]
16 Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL, Knoers NV, Roepman R, Mitchison HM; UK10K. Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. J Med Genet 2013;50:309-23. [PMID: 23456818 DOI: 10.1136/jmedgenet-2012-101284] [Cited by in Crossref: 92] [Cited by in F6Publishing: 77] [Article Influence: 10.2] [Reference Citation Analysis]
17 Sakamoto K, Nakajima M, Kawamura K, Nakamura E, Tada N, Kondo A, Arai H, Miyajima M. Ependymal ciliary motion and their role in congenital hydrocephalus. Childs Nerv Syst 2021. [PMID: 33999288 DOI: 10.1007/s00381-021-05194-9] [Reference Citation Analysis]
18 Ta-Shma A, Hjeij R, Perles Z, Dougherty GW, Abu Zahira I, Letteboer SJF, Antony D, Darwish A, Mans DA, Spittler S, Edelbusch C, Cindrić S, Nöthe-Menchen T, Olbrich H, Stuhlmann F, Aprea I, Pennekamp P, Loges NT, Breuer O, Shaag A, Rein AJJT, Gulec EY, Gezdirici A, Abitbul R, Elias N, Amirav I, Schmidts M, Roepman R, Elpeleg O, Omran H. Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility. PLoS Genet 2018;14:e1007602. [PMID: 30148830 DOI: 10.1371/journal.pgen.1007602] [Cited by in Crossref: 21] [Cited by in F6Publishing: 21] [Article Influence: 5.3] [Reference Citation Analysis]
19 Tate G, Tajiri T, Kishimoto K, Mitsuya T. A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome. Med Mol Morphol 2015;48:116-22. [PMID: 24912412 DOI: 10.1007/s00795-014-0079-7] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 0.4] [Reference Citation Analysis]
20 Tate G. Whole-exome sequencing reveals a combination of extremely rare single-nucleotide polymorphism of DNAH9 and RSPH1 genes in a Japanese fetus with situs viscerum inversus. Med Mol Morphol 2021;54:275-80. [PMID: 34008076 DOI: 10.1007/s00795-021-00287-5] [Reference Citation Analysis]
21 Pereira R, Oliveira J, Sousa M. A molecular approach to sperm immotility in humans: A review. Medicina Reproductiva y Embriología Clínica 2014;1:15-25. [DOI: 10.1016/s2340-9320(15)30004-9] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
22 Pereira R, Barbosa T, Gales L, Oliveira E, Santos R, Oliveira J, Sousa M. Clinical and Genetic Analysis of Children with Kartagener Syndrome. Cells 2019;8:E900. [PMID: 31443223 DOI: 10.3390/cells8080900] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
23 Wang L, Zhao X, Liang H, Zhang L, Li C, Li D, Meng X, Meng F, Gao M. Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review. BMC Pulm Med 2021;21:263. [PMID: 34391405 DOI: 10.1186/s12890-021-01586-4] [Reference Citation Analysis]
24 Zhou S, Huang H, Chen Q, Tan KS, Zhu Z, Peng Y, Ong HH, Liu J, Xu M, Gao J, Chen H, Tay JK, Qiu Q, Wang DY. Long-term defects of nasal epithelium barrier functions in patients with nasopharyngeal carcinoma post chemo-radiotherapy. Radiother Oncol 2020;148:116-25. [PMID: 32353641 DOI: 10.1016/j.radonc.2020.03.038] [Cited by in F6Publishing: 1] [Reference Citation Analysis]