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For: Failly M, Saitta A, Muñoz A, Falconnet E, Rossier C, Santamaria F, de Santi MM, Lazor R, DeLozier-Blanchet CD, Bartoloni L, Blouin JL. DNAI1 mutations explain only 2% of primary ciliary dykinesia. Respiration 2008;76:198-204. [PMID: 18434704 DOI: 10.1159/000128567] [Cited by in Crossref: 31] [Cited by in F6Publishing: 31] [Article Influence: 2.2] [Reference Citation Analysis]
Number Citing Articles
1 Bush A, Hogg C. Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy. Expert Review of Respiratory Medicine 2014;6:663-82. [DOI: 10.1586/ers.12.60] [Cited by in Crossref: 32] [Cited by in F6Publishing: 30] [Article Influence: 4.0] [Reference Citation Analysis]
2 Ziętkiewicz E, Nitka B, Voelkel K, Skrzypczak U, Bukowy Z, Rutkiewicz E, Humińska K, Przystałowska H, Pogorzelski A, Witt M. Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). Respir Res 2010;11:174. [PMID: 21143860 DOI: 10.1186/1465-9921-11-174] [Cited by in Crossref: 21] [Cited by in F6Publishing: 18] [Article Influence: 1.8] [Reference Citation Analysis]
3 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]
4 Leigh MW. Primary Ciliary Dyskinesia. Kendig & Chernick’s Disorders of the Respiratory Tract in Children. Elsevier; 2012. pp. 995-1002. [DOI: 10.1016/b978-1-4377-1984-0.00071-1] [Cited by in Crossref: 2] [Article Influence: 0.2] [Reference Citation Analysis]
5 Bukowy Z, Ziętkiewicz E, Witt M. In vitro culturing of ciliary respiratory cells--a model for studies of genetic diseases. J Appl Genet 2011;52:39-51. [PMID: 21125367 DOI: 10.1007/s13353-010-0005-1] [Cited by in Crossref: 9] [Cited by in F6Publishing: 9] [Article Influence: 0.8] [Reference Citation Analysis]
6 Leigh MW, Zariwala MA, Knowles MR. Primary ciliary dyskinesia: improving the diagnostic approach. Curr Opin Pediatr 2009;21:320-5. [PMID: 19300264 DOI: 10.1097/MOP.0b013e328329cddb] [Cited by in Crossref: 46] [Cited by in F6Publishing: 25] [Article Influence: 3.5] [Reference Citation Analysis]
7 Reula A, Lucas J, Moreno-galdó A, Romero T, Milara X, Carda C, Mata-roig M, Escribano A, Dasi F, Armengot-carceller M. New insights in primary ciliary dyskinesia. Expert Opinion on Orphan Drugs 2017;5:537-48. [DOI: 10.1080/21678707.2017.1324780] [Cited by in Crossref: 11] [Cited by in F6Publishing: 3] [Article Influence: 2.2] [Reference Citation Analysis]
8 Knowles MR, Leigh MW, Carson JL, Davis SD, Dell SD, Ferkol TW, Olivier KN, Sagel SD, Rosenfeld M, Burns KA, Minnix SL, Armstrong MC, Lori A, Hazucha MJ, Loges NT, Olbrich H, Becker-Heck A, Schmidts M, Werner C, Omran H, Zariwala MA; Genetic Disorders of Mucociliary Clearance Consortium. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax 2012;67:433-41. [PMID: 22184204 DOI: 10.1136/thoraxjnl-2011-200301] [Cited by in Crossref: 138] [Cited by in F6Publishing: 122] [Article Influence: 12.5] [Reference Citation Analysis]
9 McLachlan RI, Ishikawa T, Osianlis T, Robinson P, Merriner DJ, Healy D, de Kretser D, O'Bryan MK. Normal live birth after testicular sperm extraction and intracytoplasmic sperm injection in variant primary ciliary dyskinesia with completely immotile sperm and structurally abnormal sperm tails. Fertil Steril 2012;97:313-8. [PMID: 22137492 DOI: 10.1016/j.fertnstert.2011.11.003] [Cited by in Crossref: 24] [Cited by in F6Publishing: 24] [Article Influence: 2.2] [Reference Citation Analysis]
10 Berger W, Kloeckener-Gruissem B, Neidhardt J. The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res. 2010;29:335-375. [PMID: 20362068 DOI: 10.1016/j.preteyeres.2010.03.004] [Cited by in Crossref: 294] [Cited by in F6Publishing: 273] [Article Influence: 24.5] [Reference Citation Analysis]
11 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]
12 Loges NT, Olbrich H, Fenske L, Mussaffi H, Horvath J, Fliegauf M, Kuhl H, Baktai G, Peterffy E, Chodhari R, Chung EM, Rutman A, O'Callaghan C, Blau H, Tiszlavicz L, Voelkel K, Witt M, Zietkiewicz E, Neesen J, Reinhardt R, Mitchison HM, Omran H. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet 2008;83:547-58. [PMID: 18950741 DOI: 10.1016/j.ajhg.2008.10.001] [Cited by in Crossref: 181] [Cited by in F6Publishing: 157] [Article Influence: 12.9] [Reference Citation Analysis]
13 Busquets RM, Caballero-rabasco MA, Velasco M, Lloreta J, García-algar Ó. Primary Ciliary Dyskinesia: Clinical Criteria Indicating Ultrastructural Studies. Archivos de Bronconeumología (English Edition) 2013;49:99-104. [DOI: 10.1016/j.arbr.2013.01.013] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.1] [Reference Citation Analysis]
14 Livnat G, Bentur L. Non-cystic fibrosis bronchiectasis: review and recent advances. F1000 Med Rep 2009;1:67. [PMID: 20948713 DOI: 10.3410/M1-67] [Cited by in Crossref: 3] [Article Influence: 0.2] [Reference Citation Analysis]
15 Kobayashi D, Takeda H. Ciliary motility: the components and cytoplasmic preassembly mechanisms of the axonemal dyneins. Differentiation 2012;83:S23-9. [PMID: 22154137 DOI: 10.1016/j.diff.2011.11.009] [Cited by in Crossref: 45] [Cited by in F6Publishing: 40] [Article Influence: 4.1] [Reference Citation Analysis]
16 Lucas JS, Paff T, Goggin P, Haarman E. Diagnostic Methods in Primary Ciliary Dyskinesia. Paediatric Respiratory Reviews 2016;18:8-17. [DOI: 10.1016/j.prrv.2015.07.017] [Cited by in Crossref: 9] [Cited by in F6Publishing: 12] [Article Influence: 1.5] [Reference Citation Analysis]
17 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]
18 Mazor M, Alkrinawi S, Chalifa-Caspi V, Manor E, Sheffield VC, Aviram M, Parvari R. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet 2011;88:599-607. [PMID: 21496787 DOI: 10.1016/j.ajhg.2011.03.018] [Cited by in Crossref: 89] [Cited by in F6Publishing: 83] [Article Influence: 8.1] [Reference Citation Analysis]
19 Reish O, Slatkin M, Chapman-Shimshoni D, Elizur A, Chioza B, Castleman V, Mitchison HM. Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. Ann Hum Genet 2010;74:117-25. [PMID: 20070851 DOI: 10.1111/j.1469-1809.2009.00559.x] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 1.0] [Reference Citation Analysis]
20 Ziętkiewicz E, Bukowy-Bieryłło Z, Voelkel K, Klimek B, Dmeńska H, Pogorzelski A, Sulikowska-Rowińska A, Rutkiewicz E, Witt M. Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients. PLoS One 2012;7:e33667. [PMID: 22448264 DOI: 10.1371/journal.pone.0033667] [Cited by in Crossref: 45] [Cited by in F6Publishing: 39] [Article Influence: 4.5] [Reference Citation Analysis]
21 Busquets RM, Caballero-Rabasco MA, Velasco M, Lloreta J, García-Algar Ó. Primary ciliary dyskinesia: clinical criteria indicating ultrastructural studies. Arch Bronconeumol 2013;49:99-104. [PMID: 23265970 DOI: 10.1016/j.arbres.2012.10.007] [Cited by in Crossref: 5] [Cited by in F6Publishing: 3] [Article Influence: 0.5] [Reference Citation Analysis]
22 Praveen K, Davis EE, Katsanis N. Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder. F1000Prime Rep 2015;7:36. [PMID: 25926987 DOI: 10.12703/P7-36] [Cited by in Crossref: 43] [Cited by in F6Publishing: 29] [Article Influence: 6.1] [Reference Citation Analysis]
23 Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM. Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet 2009;84:197-209. [PMID: 19200523 DOI: 10.1016/j.ajhg.2009.01.011] [Cited by in Crossref: 219] [Cited by in F6Publishing: 197] [Article Influence: 16.8] [Reference Citation Analysis]
24 Hui X, Hu Y, Sun MA, Shu X, Han R, Ge Q, Wang Y. EBT: a statistic test identifying moderate size of significant features with balanced power and precision for genome-wide rate comparisons. Bioinformatics 2017;33:2631-41. [PMID: 28472273 DOI: 10.1093/bioinformatics/btx294] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.3] [Reference Citation Analysis]
25 Kurkowiak M, Ziętkiewicz E, Witt M. Recent advances in primary ciliary dyskinesia genetics. J Med Genet 2015;52:1-9. [PMID: 25351953 DOI: 10.1136/jmedgenet-2014-102755] [Cited by in Crossref: 63] [Cited by in F6Publishing: 55] [Article Influence: 7.9] [Reference Citation Analysis]
26 Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med 2009;11:473-87. [PMID: 19606528 DOI: 10.1097/GIM.0b013e3181a53562] [Cited by in Crossref: 246] [Cited by in F6Publishing: 138] [Article Influence: 18.9] [Reference Citation Analysis]
27 Deng H, Xia H, Deng S. Genetic basis of human left-right asymmetry disorders. Expert Rev Mol Med 2015;16:e19. [PMID: 26258520 DOI: 10.1017/erm.2014.22] [Cited by in Crossref: 33] [Cited by in F6Publishing: 27] [Article Influence: 4.7] [Reference Citation Analysis]
28 Kurkowiak M, Ziętkiewicz E, Witt M. Recent advances in primary ciliary dyskinesia genetics. J Med Genet 2015;52:1-9. [PMID: 25351953 DOI: 10.1136/jmedgenet-2014-102755] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
29 Sutherland MJ, Ware SM. Disorders of left-right asymmetry: Heterotaxy and situs inversus. Am J Med Genet 2009;151C:307-17. [DOI: 10.1002/ajmg.c.30228] [Cited by in Crossref: 157] [Cited by in F6Publishing: 138] [Article Influence: 12.1] [Reference Citation Analysis]
30 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]
31 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]
32 Khan AO, Stapley RJ, Pike JA, Wijesinghe S, Reyat JS, Almazni I, Machlus KR, Morgan NV; the UK GAPP Study Group. Novel gene variants in patients with platelet‐based bleeding using combined exome sequencing and RNAseq murine expression data. J Thromb Haemost 2021;19:262-8. [DOI: 10.1111/jth.15119] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]