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Volumn 18, Issue , 2016, Pages 8-17

Diagnostic Methods in Primary Ciliary Dyskinesia

Author keywords

Diagnosis; Electron microscopy; Genetics; High speed video analysis; Nitric oxide; Primary ciliary dyskinesia

Indexed keywords

NITRIC OXIDE;

EID: 84941010599     PISSN: 15260542     EISSN: 15260550     Source Type: Journal    
DOI: 10.1016/j.prrv.2015.07.017     Document Type: Review
Times cited : (38)

References (117)
  • 1
    • 3242749954 scopus 로고    scopus 로고
    • More on Kartagener's syndrome and the contributions of Afzelius and A.K. Siewert
    • Berdon W.E., McManus C., Afzelius B. More on Kartagener's syndrome and the contributions of Afzelius and A.K. Siewert. Pediatric radiology 2004, 34(7):585-586.
    • (2004) Pediatric radiology , vol.34 , Issue.7 , pp. 585-586
    • Berdon, W.E.1    McManus, C.2    Afzelius, B.3
  • 2
    • 0017162819 scopus 로고
    • A human syndrome caused by immotile cilia
    • Afzelius B.A. A human syndrome caused by immotile cilia. Science 1976, 193(4250):317-319.
    • (1976) Science , vol.193 , Issue.4250 , pp. 317-319
    • Afzelius, B.A.1
  • 3
    • 0017769290 scopus 로고
    • The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility
    • Eliasson R., Mossberg B., Camner P., Afzelius B.A. The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility. N Engl J Med 1977, 297(1):1-6.
    • (1977) N Engl J Med , vol.297 , Issue.1 , pp. 1-6
    • Eliasson, R.1    Mossberg, B.2    Camner, P.3    Afzelius, B.A.4
  • 4
    • 0017126106 scopus 로고
    • Absence of axonemal arms in nasal mucosa cilia in Kartagener's syndrome
    • Pedersen H., Mygind N. Absence of axonemal arms in nasal mucosa cilia in Kartagener's syndrome. Nature 1976, 262(5568):494-495.
    • (1976) Nature , vol.262 , Issue.5568 , pp. 494-495
    • Pedersen, H.1    Mygind, N.2
  • 6
    • 0018583774 scopus 로고
    • Flagellar mutants in man: on the heterogeneity of the immotile-cilia syndrome
    • Afzelius B.A., Eliasson R. Flagellar mutants in man: on the heterogeneity of the immotile-cilia syndrome. Journal of ultrastructure research 1979, 69(1):43-52.
    • (1979) Journal of ultrastructure research , vol.69 , Issue.1 , pp. 43-52
    • Afzelius, B.A.1    Eliasson, R.2
  • 7
    • 0018928982 scopus 로고
    • Ciliary motility in the 'immotile cilia syndrome'. First results of microphoto-oscillographic studies
    • Pedersen M., Mygind N. Ciliary motility in the 'immotile cilia syndrome'. First results of microphoto-oscillographic studies. Br J Dis Chest 1980, 74(3):239-244.
    • (1980) Br J Dis Chest , vol.74 , Issue.3 , pp. 239-244
    • Pedersen, M.1    Mygind, N.2
  • 8
    • 0019330266 scopus 로고
    • Motile cilia in "immotile cilia" syndrome
    • Rossman C., Forrest J., Newhouse M. Motile cilia in "immotile cilia" syndrome. Lancet 1980, 1(8182):1360.
    • (1980) Lancet , vol.1 , Issue.8182 , pp. 1360
    • Rossman, C.1    Forrest, J.2    Newhouse, M.3
  • 10
    • 0019890725 scopus 로고
    • Primary ciliary dyskinesia
    • Sleigh M.A. Primary ciliary dyskinesia. Lancet 1981, 2(8244):476aa.
    • (1981) Lancet , vol.2 , Issue.8244 , pp. 476aa
    • Sleigh, M.A.1
  • 11
    • 73249125649 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children
    • Barbato A., Frischer T., Kuehni C.E., et al. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J 2009, 34(6):1264-1276.
    • (2009) Eur Respir J , vol.34 , Issue.6 , pp. 1264-1276
    • Barbato, A.1    Frischer, T.2    Kuehni, C.E.3
  • 12
    • 0033365058 scopus 로고    scopus 로고
    • Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia
    • Pennarun G., Escudier E., Chapelin C., et al. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet 1999, 65(6):1508-1519.
    • (1999) Am J Hum Genet , vol.65 , Issue.6 , pp. 1508-1519
    • Pennarun, G.1    Escudier, E.2    Chapelin, C.3
  • 13
    • 84901651947 scopus 로고    scopus 로고
    • Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
    • Wallmeier J., Al-Mutairi D.A., Chen C.T., et al. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Genet 2014, 46(6):646-651.
    • (2014) Nat Genet , vol.46 , Issue.6 , pp. 646-651
    • Wallmeier, J.1    Al-Mutairi, D.A.2    Chen, C.T.3
  • 14
    • 84906274398 scopus 로고    scopus 로고
    • MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia
    • Boon M., Wallmeier J., Ma L., et al. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. Nature communications 2014, 5:4418.
    • (2014) Nature communications , vol.5 , pp. 4418
    • Boon, M.1    Wallmeier, J.2    Ma, L.3
  • 15
    • 84916203838 scopus 로고    scopus 로고
    • Diagnosis of primary ciliary dyskinesia: searching for a gold standard
    • Lucas J.S., Leigh M.W. Diagnosis of primary ciliary dyskinesia: searching for a gold standard. Eur Respir J 2014, 44(6):1418-1422.
    • (2014) Eur Respir J , vol.44 , Issue.6 , pp. 1418-1422
    • Lucas, J.S.1    Leigh, M.W.2
  • 16
    • 78649719823 scopus 로고    scopus 로고
    • Factors influencing age at diagnosis of primary ciliary dyskinesia in European children
    • Kuehni C.E., Frischer T., Strippoli M.P., et al. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J 2010, 36(6):1248-1258.
    • (2010) Eur Respir J , vol.36 , Issue.6 , pp. 1248-1258
    • Kuehni, C.E.1    Frischer, T.2    Strippoli, M.P.3
  • 18
    • 84979962678 scopus 로고    scopus 로고
    • Diagnosis and management of primary ciliary dyskinesia
    • Werner C., Onnebrink J.G., Omran H. Diagnosis and management of primary ciliary dyskinesia. Cilia 2015, 4(1):2.
    • (2015) Cilia , vol.4 , Issue.1 , pp. 2
    • Werner, C.1    Onnebrink, J.G.2    Omran, H.3
  • 19
    • 84886402463 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease
    • Knowles M.R., Daniels L.A., Davis S.D., Zariwala M.A., Leigh M.W. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med 2013, 188(8):913-922.
    • (2013) Am J Respir Crit Care Med , vol.188 , Issue.8 , pp. 913-922
    • Knowles, M.R.1    Daniels, L.A.2    Davis, S.D.3    Zariwala, M.A.4    Leigh, M.W.5
  • 20
    • 84900422761 scopus 로고    scopus 로고
    • Picking up speed: advances in the genetics of primary ciliary dyskinesia
    • Horani A., Brody S.L., Ferkol T.W. Picking up speed: advances in the genetics of primary ciliary dyskinesia. Pediatric Research 2014, 75(1-2):158-164.
    • (2014) Pediatric Research , vol.75 , Issue.1-2 , pp. 158-164
    • Horani, A.1    Brody, S.L.2    Ferkol, T.W.3
  • 21
    • 84907327766 scopus 로고    scopus 로고
    • High-speed video microscopy, electron microscopy, and genetics: a primary ciliary dyskinesia puzzle to complete
    • Snijders D., Bertozzi I., Barbato A., Nasal N.O. high-speed video microscopy, electron microscopy, and genetics: a primary ciliary dyskinesia puzzle to complete. Pediatric Research 2014, 76(3):321.
    • (2014) Pediatric Research , vol.76 , Issue.3 , pp. 321
    • Snijders, D.1    Bertozzi, I.2    Barbato, A.3    Nasal, N.O.4
  • 22
    • 84913582067 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia and neonatal respiratory distress
    • Mullowney T., Manson D., Kim R., Stephens D., Shah V., Dell S. Primary ciliary dyskinesia and neonatal respiratory distress. Pediatrics 2014, 134(6):1160-1166.
    • (2014) Pediatrics , vol.134 , Issue.6 , pp. 1160-1166
    • Mullowney, T.1    Manson, D.2    Kim, R.3    Stephens, D.4    Shah, V.5    Dell, S.6
  • 23
    • 34249661222 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia and newborn respiratory distress
    • Ferkol T., Leigh M. Primary ciliary dyskinesia and newborn respiratory distress. Seminars in perinatology 2006, 30(6):335-340.
    • (2006) Seminars in perinatology , vol.30 , Issue.6 , pp. 335-340
    • Ferkol, T.1    Leigh, M.2
  • 25
    • 34247571813 scopus 로고    scopus 로고
    • High-resolution CT of patients with primary ciliary dyskinesia
    • Kennedy M.P., Noone P.G., Leigh M.W., et al. High-resolution CT of patients with primary ciliary dyskinesia. Am J Roentgenol 2007, 188(5):1232-1238.
    • (2007) Am J Roentgenol , vol.188 , Issue.5 , pp. 1232-1238
    • Kennedy, M.P.1    Noone, P.G.2    Leigh, M.W.3
  • 26
    • 0028023991 scopus 로고
    • Primarily nasal origin of exhaled nitric oxide and absence in Kartagener's syndrome
    • Lundberg J.O., Weitzberg E., Nordvall S.L., et al. Primarily nasal origin of exhaled nitric oxide and absence in Kartagener's syndrome. The European respiratory journal 1994, 7(8):1501-1504.
    • (1994) The European respiratory journal , vol.7 , Issue.8 , pp. 1501-1504
    • Lundberg, J.O.1    Weitzberg, E.2    Nordvall, S.L.3
  • 28
    • 84892177842 scopus 로고    scopus 로고
    • Nasal nitric oxide is an important test in the diagnostic pathway for primary ciliary dyskinesia
    • Lucas J.S., Walker W.T. Nasal nitric oxide is an important test in the diagnostic pathway for primary ciliary dyskinesia. Ann Am Thorac Soc 2013, 10(6):645-647.
    • (2013) Ann Am Thorac Soc , vol.10 , Issue.6 , pp. 645-647
    • Lucas, J.S.1    Walker, W.T.2
  • 29
    • 84886431107 scopus 로고    scopus 로고
    • Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia
    • Leigh M.W., Hazucha M.J., Chawla K.K., et al. Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia. Ann Am Thorac Soc 2013, 10(6):574-581.
    • (2013) Ann Am Thorac Soc , vol.10 , Issue.6 , pp. 574-581
    • Leigh, M.W.1    Hazucha, M.J.2    Chawla, K.K.3
  • 30
    • 78349283107 scopus 로고    scopus 로고
    • Nasal nitric oxide and pulmonary radioaerosol mucociliary clearance as supplementary tools in diagnosis of primary ciliary dyskinesia
    • Marthin J.K. Nasal nitric oxide and pulmonary radioaerosol mucociliary clearance as supplementary tools in diagnosis of primary ciliary dyskinesia. Dan Med Bull 2010, 57(8):B4174.
    • (2010) Dan Med Bull , vol.57 , Issue.8 , pp. B4174
    • Marthin, J.K.1
  • 31
    • 79953682518 scopus 로고    scopus 로고
    • Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia
    • Marthin J.K., Nielsen K.G. Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia. Eur Respir J 2011, 37(3):559-565.
    • (2011) Eur Respir J , vol.37 , Issue.3 , pp. 559-565
    • Marthin, J.K.1    Nielsen, K.G.2
  • 32
    • 84916216961 scopus 로고    scopus 로고
    • Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis
    • Collins S.A., Gove K., Walker W., Lucas J.S. Nasal nitric oxide screening for primary ciliary dyskinesia: systematic review and meta-analysis. Eur Respir J 2014, 44(6):1589-1599.
    • (2014) Eur Respir J , vol.44 , Issue.6 , pp. 1589-1599
    • Collins, S.A.1    Gove, K.2    Walker, W.3    Lucas, J.S.4
  • 33
    • 17644363081 scopus 로고    scopus 로고
    • AmJRespirCrit Care Med 2005
    • ATS/ERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005. AmJRespirCrit Care Med 2005, 171(8):912-930.
    • (2005) , vol.171 , Issue.8 , pp. 912-930
  • 34
    • 84874247303 scopus 로고    scopus 로고
    • Hand-held tidal breathing nasal nitric oxide measurement--a promising targeted case-finding tool for the diagnosis of primary ciliary dyskinesia
    • Marthin J.K., Nielsen K.G. Hand-held tidal breathing nasal nitric oxide measurement--a promising targeted case-finding tool for the diagnosis of primary ciliary dyskinesia. PLoS One 2013, 8(2):e57262.
    • (2013) PLoS One , vol.8 , Issue.2 , pp. e57262
    • Marthin, J.K.1    Nielsen, K.G.2
  • 35
    • 80051801443 scopus 로고    scopus 로고
    • Diagnostic value of nasal nitric oxide measured with non-velum closure techniques for children with primary ciliary dyskinesia
    • Mateos-Corral D., Coombs R., Grasemann H., Ratjen F., Dell S.D. Diagnostic value of nasal nitric oxide measured with non-velum closure techniques for children with primary ciliary dyskinesia. J Pediatr 2011, 159(3):420-424.
    • (2011) J Pediatr , vol.159 , Issue.3 , pp. 420-424
    • Mateos-Corral, D.1    Coombs, R.2    Grasemann, H.3    Ratjen, F.4    Dell, S.D.5
  • 36
    • 63149148747 scopus 로고    scopus 로고
    • Bronchial and peripheral airway nitric oxide in primary ciliary dyskinesia and bronchiectasis
    • Shoemark A., Wilson R. Bronchial and peripheral airway nitric oxide in primary ciliary dyskinesia and bronchiectasis. Respir Med 2009, 103(5):700-706.
    • (2009) Respir Med , vol.103 , Issue.5 , pp. 700-706
    • Shoemark, A.1    Wilson, R.2
  • 37
    • 84893650975 scopus 로고    scopus 로고
    • Validation of a portable nitric oxide analyzer for screening in primary ciliary dyskinesias
    • Harris A., Bhullar E., Gove K., et al. Validation of a portable nitric oxide analyzer for screening in primary ciliary dyskinesias. BMC Pulm Med 2014, 14(1):18.
    • (2014) BMC Pulm Med , vol.14 , Issue.1 , pp. 18
    • Harris, A.1    Bhullar, E.2    Gove, K.3
  • 38
    • 80051796161 scopus 로고    scopus 로고
    • Measurement of nasal nitric oxide by hand-held and stationary devices
    • Montella S., Alving K., Maniscalco M., et al. Measurement of nasal nitric oxide by hand-held and stationary devices. Eur J Clin Invest 2011, 41(10):1063-1070.
    • (2011) Eur J Clin Invest , vol.41 , Issue.10 , pp. 1063-1070
    • Montella, S.1    Alving, K.2    Maniscalco, M.3
  • 39
    • 84916204795 scopus 로고    scopus 로고
    • Diagnostic accuracy of nitric oxide measurements to detect Primary Ciliary Dyskinesia
    • Boon M., Meyts I., Proesmans M., et al. Diagnostic accuracy of nitric oxide measurements to detect Primary Ciliary Dyskinesia. Eur J Clin Invest 2014, 44(5):477-485.
    • (2014) Eur J Clin Invest , vol.44 , Issue.5 , pp. 477-485
    • Boon, M.1    Meyts, I.2    Proesmans, M.3
  • 40
    • 84955216831 scopus 로고    scopus 로고
    • Technical and practical issues for tidal breathing measurements of nasal nitric oxide in children
    • Beydon N., Chambellan A., Alberti C., et al. Technical and practical issues for tidal breathing measurements of nasal nitric oxide in children. Ped Pulm 2015.
    • (2015) Ped Pulm
    • Beydon, N.1    Chambellan, A.2    Alberti, C.3
  • 43
    • 79955601929 scopus 로고    scopus 로고
    • Professional skills and competence for safe and effective procedural sedation in children: recommendations based on a systematic review of the literature
    • Leroy P.L., Schipper D.M., Knape H.J. Professional skills and competence for safe and effective procedural sedation in children: recommendations based on a systematic review of the literature. Int Jour Ped 2010, 2010:934298.
    • (2010) Int Jour Ped , vol.2010 , pp. 934298
    • Leroy, P.L.1    Schipper, D.M.2    Knape, H.J.3
  • 44
    • 0027440578 scopus 로고
    • Variability in ciliary beat frequency in normal subjects and in patients with bronchiectasis
    • Veale D., Rodgers A.D., Griffiths C.J., Ashcroft T., Gibson G.J. Variability in ciliary beat frequency in normal subjects and in patients with bronchiectasis. Thorax 1993, 48(10):1018-1020.
    • (1993) Thorax , vol.48 , Issue.10 , pp. 1018-1020
    • Veale, D.1    Rodgers, A.D.2    Griffiths, C.J.3    Ashcroft, T.4    Gibson, G.J.5
  • 46
    • 84892634614 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure
    • Boon M., Smits A., Cuppens H., et al. Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. Orphanet journal of rare diseases 2014, 9:11.
    • (2014) Orphanet journal of rare diseases , vol.9 , pp. 11
    • Boon, M.1    Smits, A.2    Cuppens, H.3
  • 47
    • 0042235314 scopus 로고    scopus 로고
    • Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia
    • Chilvers M.A., Rutman A., O'Callaghan C. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia. J Allergy ClinImmunol 2003, 112(3):518-524.
    • (2003) J Allergy ClinImmunol , vol.112 , Issue.3 , pp. 518-524
    • Chilvers, M.A.1    Rutman, A.2    O'Callaghan, C.3
  • 48
    • 84916235760 scopus 로고    scopus 로고
    • Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia
    • Raidt J., Wallmeier J., Hjeij R., et al. Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. Eur Respir J 2014, 44(6):1579-1588.
    • (2014) Eur Respir J , vol.44 , Issue.6 , pp. 1579-1588
    • Raidt, J.1    Wallmeier, J.2    Hjeij, R.3
  • 49
    • 84883827169 scopus 로고    scopus 로고
    • Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects
    • Kott E., Legendre M., Copin B., et al. Loss-of-Function Mutations in RSPH1 Cause Primary Ciliary Dyskinesia with Central-Complex and Radial-Spoke Defects. Am J Hum Genet 2013, 93(3):561-570.
    • (2013) Am J Hum Genet , vol.93 , Issue.3 , pp. 561-570
    • Kott, E.1    Legendre, M.2    Copin, B.3
  • 50
    • 62649153946 scopus 로고    scopus 로고
    • Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities
    • Castleman V.H., Romio L., Chodhari R., et al. 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(2):197-209.
    • (2009) Am J Hum Genet , vol.84 , Issue.2 , pp. 197-209
    • Castleman, V.H.1    Romio, L.2    Chodhari, R.3
  • 52
    • 84864826506 scopus 로고    scopus 로고
    • Ciliary beat pattern analysis below 37 degrees C may increase risk of primary ciliary dyskinesia misdiagnosis
    • Jackson C.L., Goggin P.M., Lucas J.S. Ciliary beat pattern analysis below 37 degrees C may increase risk of primary ciliary dyskinesia misdiagnosis. Chest 2012, 142(2):543-544.
    • (2012) Chest , vol.142 , Issue.2 , pp. 543-544
    • Jackson, C.L.1    Goggin, P.M.2    Lucas, J.S.3
  • 53
    • 84867236058 scopus 로고    scopus 로고
    • Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study
    • Papon J.F., Bassinet L., Cariou-Patron G., et al. Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study. Orphanet journal of rare diseases 2012, 7:78.
    • (2012) Orphanet journal of rare diseases , vol.7 , pp. 78
    • Papon, J.F.1    Bassinet, L.2    Cariou-Patron, G.3
  • 54
    • 84874828597 scopus 로고    scopus 로고
    • CiliaFA: a research tool for automated, high-throughput measurement of ciliary beat frequency using freely available software
    • Smith C.M., Djakow J., Free R.C., et al. ciliaFA: a research tool for automated, high-throughput measurement of ciliary beat frequency using freely available software. Cilia 2012, 1(1):14.
    • (2012) Cilia , vol.1 , Issue.1 , pp. 14
    • Smith, C.M.1    Djakow, J.2    Free, R.C.3
  • 57
    • 0034157665 scopus 로고    scopus 로고
    • Ciliary function analysis for the diagnosis of primary ciliary dyskinesia: advantages of ciliogenesis in culture
    • Jorissen M., Willems T., Van der Schueren B. Ciliary function analysis for the diagnosis of primary ciliary dyskinesia: advantages of ciliogenesis in culture. Acta Otolaryngol 2000, 120(2):291-295.
    • (2000) Acta Otolaryngol , vol.120 , Issue.2 , pp. 291-295
    • Jorissen, M.1    Willems, T.2    Van der Schueren, B.3
  • 58
    • 77951953097 scopus 로고    scopus 로고
    • A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia
    • Papon J.F., Coste A., Roudot-Thoraval F., et al. A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. EurRespirJ 2010, 35(5):1057-1063.
    • (2010) EurRespirJ , vol.35 , Issue.5 , pp. 1057-1063
    • Papon, J.F.1    Coste, A.2    Roudot-Thoraval, F.3
  • 59
    • 84857360976 scopus 로고    scopus 로고
    • Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia
    • Shoemark A., Dixon M., Corrin B., Dewar A. Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. J Clin Pathol 2012, 65(3):267-271.
    • (2012) J Clin Pathol , vol.65 , Issue.3 , pp. 267-271
    • Shoemark, A.1    Dixon, M.2    Corrin, B.3    Dewar, A.4
  • 60
    • 80053061098 scopus 로고    scopus 로고
    • Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required
    • O'Callaghan C., Rutman A., Williams G.M., Hirst R.A. Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required. Eur Respir J 2011, 38(3):603-607.
    • (2011) Eur Respir J , vol.38 , Issue.3 , pp. 603-607
    • O'Callaghan, C.1    Rutman, A.2    Williams, G.M.3    Hirst, R.A.4
  • 61
    • 84898756545 scopus 로고    scopus 로고
    • The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia
    • Kim RH, D AH, Cutz E, Knowles MR, et al. The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. Annals of the American Thoracic Society 2014, 11(3):351-359.
    • (2014) Annals of the American Thoracic Society , vol.11 , Issue.3 , pp. 351-359
    • Kim, R.H.1    Hall, D.A.2    Cutz, E.3    Knowles, M.R.4
  • 63
    • 84874658994 scopus 로고    scopus 로고
    • The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
    • Wirschell M., Olbrich H., Werner C., et al. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nat Genet 2013, 45(3):262-268.
    • (2013) Nat Genet , vol.45 , Issue.3 , pp. 262-268
    • Wirschell, M.1    Olbrich, H.2    Werner, C.3
  • 64
    • 84867244938 scopus 로고    scopus 로고
    • Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
    • Olbrich H., Schmidts M., Werner C., et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. Am J Hum Genet 2012, 91(4):672-684.
    • (2012) Am J Hum Genet , vol.91 , Issue.4 , pp. 672-684
    • Olbrich, H.1    Schmidts, M.2    Werner, C.3
  • 65
    • 84859823623 scopus 로고    scopus 로고
    • Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure
    • Knowles M.R., Leigh M.W., Carson J.L., et al. Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax 2012, 67(5):433-441.
    • (2012) Thorax , vol.67 , Issue.5 , pp. 433-441
    • Knowles, M.R.1    Leigh, M.W.2    Carson, J.L.3
  • 66
    • 84857054679 scopus 로고    scopus 로고
    • Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD
    • Lucas J.S., Adam E.C., Goggin P.M., et al. Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD. Hum Mutat 2012, 33(3):495-503.
    • (2012) Hum Mutat , vol.33 , Issue.3 , pp. 495-503
    • Lucas, J.S.1    Adam, E.C.2    Goggin, P.M.3
  • 67
    • 84900000043 scopus 로고    scopus 로고
    • Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography
    • Burgoyne T., Lewis A., Dewar A., et al. Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography. Cytoskeleton (Hoboken, NJ) 2014, 71(5):294-301.
    • (2014) Cytoskeleton (Hoboken, NJ) , vol.71 , Issue.5 , pp. 294-301
    • Burgoyne, T.1    Lewis, A.2    Dewar, A.3
  • 68
    • 84922309553 scopus 로고    scopus 로고
    • Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype
    • Davis S.D., Ferkol T.W., Rosenfeld M., et al. Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. American journal of respiratory and critical care medicine 2015, 191(3):316-324.
    • (2015) American journal of respiratory and critical care medicine , vol.191 , Issue.3 , pp. 316-324
    • Davis, S.D.1    Ferkol, T.W.2    Rosenfeld, M.3
  • 70
    • 84872342461 scopus 로고    scopus 로고
    • Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
    • Onoufriadis A., Paff T., Antony D., et al. Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia. Am J Hum Genet 2013, 92(1):88-98.
    • (2013) Am J Hum Genet , vol.92 , Issue.1 , pp. 88-98
    • Onoufriadis, A.1    Paff, T.2    Antony, D.3
  • 71
    • 0036479029 scopus 로고    scopus 로고
    • Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry
    • Olbrich H., Haffner K., Kispert A., et al. Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. Nat Genet 2002, 30(2):143-144.
    • (2002) Nat Genet , vol.30 , Issue.2 , pp. 143-144
    • Olbrich, H.1    Haffner, K.2    Kispert, A.3
  • 72
    • 33847678960 scopus 로고    scopus 로고
    • A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia
    • Duriez B., Duquesnoy P., Escudier E., et al. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc Natl Acad Sci USA 2007, 104(9):3336-3341.
    • (2007) Proc Natl Acad Sci USA , vol.104 , Issue.9 , pp. 3336-3341
    • Duriez, B.1    Duquesnoy, P.2    Escudier, E.3
  • 73
    • 55249083702 scopus 로고    scopus 로고
    • DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm
    • Loges N.T., Olbrich H., Fenske L., et al. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. Am J Hum Genet 2008, 83(5):547-558.
    • (2008) Am J Hum Genet , vol.83 , Issue.5 , pp. 547-558
    • Loges, N.T.1    Olbrich, H.2    Fenske, L.3
  • 74
    • 79955856801 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1
    • Mazor M., Alkrinawi S., Chalifa-Caspi V., et al. Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet 2011, 88(5):599-607.
    • (2011) Am J Hum Genet , vol.88 , Issue.5 , pp. 599-607
    • Mazor, M.1    Alkrinawi, S.2    Chalifa-Caspi, V.3
  • 75
    • 38949108779 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
    • Schwabe G.C., Hoffmann K., Loges N.T., et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat 2008, 29(2):289-298.
    • (2008) Hum Mutat , vol.29 , Issue.2 , pp. 289-298
    • Schwabe, G.C.1    Hoffmann, K.2    Loges, N.T.3
  • 76
    • 49949100454 scopus 로고    scopus 로고
    • DNAI1 mutations explain only 2% of primary ciliary dykinesia
    • Failly M., Saitta A., Munoz A., et al. DNAI1 mutations explain only 2% of primary ciliary dykinesia. Respiration 2008, 76(2):198-204.
    • (2008) Respiration , vol.76 , Issue.2 , pp. 198-204
    • Failly, M.1    Saitta, A.2    Munoz, A.3
  • 77
    • 0035068576 scopus 로고    scopus 로고
    • Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)
    • Guichard C., Harricane M.C., Lafitte J.J., et al. Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). American journal of human genetics 2001, 68(4):1030-1035.
    • (2001) American journal of human genetics , vol.68 , Issue.4 , pp. 1030-1035
    • Guichard, C.1    Harricane, M.C.2    Lafitte, J.J.3
  • 78
    • 33745748480 scopus 로고    scopus 로고
    • DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects
    • Hornef N., Olbrich H., Horvath J., et al. DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med 2006, 174(2):120-126.
    • (2006) Am J Respir Crit Care Med , vol.174 , Issue.2 , pp. 120-126
    • Hornef, N.1    Olbrich, H.2    Horvath, J.3
  • 80
    • 84908250713 scopus 로고    scopus 로고
    • CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation
    • Hjeij R., Onoufriadis A., Watson C.M., et al. CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. American journal of human genetics 2014, 95(3):257-274.
    • (2014) American journal of human genetics , vol.95 , Issue.3 , pp. 257-274
    • Hjeij, R.1    Onoufriadis, A.2    Watson, C.M.3
  • 81
    • 84881668924 scopus 로고    scopus 로고
    • ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry
    • Hjeij R., Lindstrand A., Francis R., et al. ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. American journal of human genetics 2013, 93(2):357-367.
    • (2013) American journal of human genetics , vol.93 , Issue.2 , pp. 357-367
    • Hjeij, R.1    Lindstrand, A.2    Francis, R.3
  • 82
    • 84873988112 scopus 로고    scopus 로고
    • Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms
    • Antony D., Becker-Heck A., Zariwala M.A., et al. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat 2013, 34(3):462-472.
    • (2013) Hum Mutat , vol.34 , Issue.3 , pp. 462-472
    • Antony, D.1    Becker-Heck, A.2    Zariwala, M.A.3
  • 83
    • 78651260210 scopus 로고    scopus 로고
    • CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
    • Merveille A.C., Davis E.E., Becker-Heck A., et al. CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 2011, 43(1):72-78.
    • (2011) Nat Genet , vol.43 , Issue.1 , pp. 72-78
    • Merveille, A.C.1    Davis, E.E.2    Becker-Heck, A.3
  • 84
    • 84864079368 scopus 로고    scopus 로고
    • Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
    • Blanchon S., Legendre M., Copin B., et al. Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. J Med Genet 2012, 49(6):410-416.
    • (2012) J Med Genet , vol.49 , Issue.6 , pp. 410-416
    • Blanchon, S.1    Legendre, M.2    Copin, B.3
  • 85
    • 84885225078 scopus 로고    scopus 로고
    • Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
    • Austin-Tse C., Halbritter J., Zariwala M.A., et al. Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. Am J Hum Genet 2013, 93(4):672-686.
    • (2013) Am J Hum Genet , vol.93 , Issue.4 , pp. 672-686
    • Austin-Tse, C.1    Halbritter, J.2    Zariwala, M.A.3
  • 86
    • 71449084986 scopus 로고    scopus 로고
    • Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia
    • Duquesnoy P., Escudier E., Vincensini L., et al. Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. American journal of human genetics 2009, 85(6):890-896.
    • (2009) American journal of human genetics , vol.85 , Issue.6 , pp. 890-896
    • Duquesnoy, P.1    Escudier, E.2    Vincensini, L.3
  • 87
    • 84867259922 scopus 로고    scopus 로고
    • Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia
    • Horani A., Druley T.E., Zariwala M.A., et al. Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. Am J Hum Genet 2012, 91(4):685-693.
    • (2012) Am J Hum Genet , vol.91 , Issue.4 , pp. 685-693
    • Horani, A.1    Druley, T.E.2    Zariwala, M.A.3
  • 88
    • 84885302492 scopus 로고    scopus 로고
    • Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms
    • Knowles M.R., Ostrowski L.E., Loges N.T., et al. Mutations in SPAG1 Cause Primary Ciliary Dyskinesia Associated with Defective Outer and Inner Dynein Arms. Am J Hum Genet 2013, 93(4):711-720.
    • (2013) Am J Hum Genet , vol.93 , Issue.4 , pp. 711-720
    • Knowles, M.R.1    Ostrowski, L.E.2    Loges, N.T.3
  • 89
    • 84868384681 scopus 로고    scopus 로고
    • Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia
    • Kott E., Duquesnoy P., Copin B., et al. Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia. Am J Hum Genet 2012, 91(5):958-964.
    • (2012) Am J Hum Genet , vol.91 , Issue.5 , pp. 958-964
    • Kott, E.1    Duquesnoy, P.2    Copin, B.3
  • 90
    • 84859436123 scopus 로고    scopus 로고
    • Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
    • Mitchison H.M., Schmidts M., Loges N.T., et al. Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. Nat Genet 2012, 44(4):381-382.
    • (2012) Nat Genet , vol.44 , Issue.4 , pp. 381-382
    • Mitchison, H.M.1    Schmidts, M.2    Loges, N.T.3
  • 91
    • 84881667611 scopus 로고    scopus 로고
    • Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia
    • Moore D.J., Onoufriadis A., Shoemark A., et al. Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. Am J Hum Genet 2013, 93(2):346-356.
    • (2013) Am J Hum Genet , vol.93 , Issue.2 , pp. 346-356
    • Moore, D.J.1    Onoufriadis, A.2    Shoemark, A.3
  • 92
    • 57349137660 scopus 로고    scopus 로고
    • Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins
    • Omran H., Kobayashi D., Olbrich H., et al. Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature 2008, 456(7222):611-616.
    • (2008) Nature , vol.456 , Issue.7222 , pp. 611-616
    • Omran, H.1    Kobayashi, D.2    Olbrich, H.3
  • 93
    • 84861640948 scopus 로고    scopus 로고
    • CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
    • Panizzi J.R., Becker-Heck A., Castleman V.H., et al. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. NatGenet 2012, 44(6):714-719.
    • (2012) NatGenet , vol.44 , Issue.6 , pp. 714-719
    • Panizzi, J.R.1    Becker-Heck, A.2    Castleman, V.H.3
  • 94
    • 84883446171 scopus 로고    scopus 로고
    • DYX1C1 is required for axonemal dynein assembly and ciliary motility
    • Tarkar A., Loges N.T., Slagle C.E., et al. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet 2013, 45(9):995-1003.
    • (2013) Nat Genet , vol.45 , Issue.9 , pp. 995-1003
    • Tarkar, A.1    Loges, N.T.2    Slagle, C.E.3
  • 95
    • 84881664454 scopus 로고    scopus 로고
    • ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6
    • Zariwala M.A., Gee H.Y., Kurkowiak M., et al. ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. American journal of human genetics 2013, 93(2):336-345.
    • (2013) American journal of human genetics , vol.93 , Issue.2 , pp. 336-345
    • Zariwala, M.A.1    Gee, H.Y.2    Kurkowiak, M.3
  • 96
    • 20444364841 scopus 로고    scopus 로고
    • Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia
    • Fliegauf M., Olbrich H., Horvath J., et al. Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia. Am J Respir Crit Care Med 2005, 171(12):1343-1349.
    • (2005) Am J Respir Crit Care Med , vol.171 , Issue.12 , pp. 1343-1349
    • Fliegauf, M.1    Olbrich, H.2    Horvath, J.3
  • 97
    • 84905662844 scopus 로고    scopus 로고
    • Pulmonary radioaerosol mucociliary clearance in primary ciliary dyskinesia
    • Walker W.T., Young A., Bennett M., et al. Pulmonary radioaerosol mucociliary clearance in primary ciliary dyskinesia. The European respiratory journal 2014, 44(2):533-535.
    • (2014) The European respiratory journal , vol.44 , Issue.2 , pp. 533-535
    • Walker, W.T.1    Young, A.2    Bennett, M.3
  • 98
    • 35448971411 scopus 로고    scopus 로고
    • Pulmonary radioaerosol mucociliary clearance in diagnosis of primary ciliary dyskinesia
    • Marthin J.K., Mortensen J., Pressler T., Nielsen K.G. Pulmonary radioaerosol mucociliary clearance in diagnosis of primary ciliary dyskinesia. Chest 2007, 132(3):966-976.
    • (2007) Chest , vol.132 , Issue.3 , pp. 966-976
    • Marthin, J.K.1    Mortensen, J.2    Pressler, T.3    Nielsen, K.G.4
  • 99
    • 84896123256 scopus 로고    scopus 로고
    • Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid
    • Hirst R.A., Jackson C.L., Coles J.L., et al. Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid. PloS one 2014, 9(2):e89675.
    • (2014) PloS one , vol.9 , Issue.2 , pp. e89675
    • Hirst, R.A.1    Jackson, C.L.2    Coles, J.L.3
  • 100
    • 0028385690 scopus 로고
    • Ciliogenesis in human bronchial epithelial cells cultured at the air-liquid interface
    • de Jong P.M., van Sterkenburg M.A., Hesseling S.C., et al. Ciliogenesis in human bronchial epithelial cells cultured at the air-liquid interface. Am J Respir Cell Mol Biol 1994, 10(3):271-277.
    • (1994) Am J Respir Cell Mol Biol , vol.10 , Issue.3 , pp. 271-277
    • de Jong, P.M.1    van Sterkenburg, M.A.2    Hesseling, S.C.3
  • 101
    • 78649839294 scopus 로고    scopus 로고
    • Ciliated air-liquid cultures as an aid to diagnostic testing of primary ciliary dyskinesia
    • Hirst R.A., Rutman A., Williams G., O'Callaghan C. Ciliated air-liquid cultures as an aid to diagnostic testing of primary ciliary dyskinesia. Chest 2010, 138(6):1441-1447.
    • (2010) Chest , vol.138 , Issue.6 , pp. 1441-1447
    • Hirst, R.A.1    Rutman, A.2    Williams, G.3    O'Callaghan, C.4
  • 103
    • 84896790843 scopus 로고    scopus 로고
    • Ciliated cultures from patients with primary ciliary dyskinesia produce nitric oxide in response to Haemophilus influenzae infection and proinflammatory cytokines
    • Walker W.T., Jackson C.L., Coles J., et al. Ciliated cultures from patients with primary ciliary dyskinesia produce nitric oxide in response to Haemophilus influenzae infection and proinflammatory cytokines. Chest 2014, 145(3):668-669.
    • (2014) Chest , vol.145 , Issue.3 , pp. 668-669
    • Walker, W.T.1    Jackson, C.L.2    Coles, J.3
  • 104
    • 84908021305 scopus 로고    scopus 로고
    • Restoring ciliary function to differentiated primary ciliary dyskinesia cells with a lentiviral vector
    • Ostrowski L.E., Yin W., Patel M., et al. Restoring ciliary function to differentiated primary ciliary dyskinesia cells with a lentiviral vector. Gene Ther 2014, 21(3):253-261.
    • (2014) Gene Ther , vol.21 , Issue.3 , pp. 253-261
    • Ostrowski, L.E.1    Yin, W.2    Patel, M.3
  • 105
    • 84861893453 scopus 로고    scopus 로고
    • Management of primary ciliary dyskinesia in European children: recommendations and clinical practice
    • Strippoli M.P., Frischer T., Barbato A., et al. Management of primary ciliary dyskinesia in European children: recommendations and clinical practice. EurRespirJ 2012, 39(6):1482-1491.
    • (2012) EurRespirJ , vol.39 , Issue.6 , pp. 1482-1491
    • Strippoli, M.P.1    Frischer, T.2    Barbato, A.3
  • 106
    • 84881085597 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure
    • Vallet C., Escudier E., Roudot-Thoraval F., et al. Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure. European journal of pediatrics 2013, 172(8):1053-1060.
    • (2013) European journal of pediatrics , vol.172 , Issue.8 , pp. 1053-1060
    • Vallet, C.1    Escudier, E.2    Roudot-Thoraval, F.3
  • 107
    • 84901635366 scopus 로고    scopus 로고
    • Overcoming challenges in the management of primary ciliary dyskinesia: the UK model
    • Lucas J.S., Chetcuti P., Copeland F., et al. Overcoming challenges in the management of primary ciliary dyskinesia: the UK model. Paediatric respiratory reviews 2014, 15(2):142-145.
    • (2014) Paediatric respiratory reviews , vol.15 , Issue.2 , pp. 142-145
    • Lucas, J.S.1    Chetcuti, P.2    Copeland, F.3
  • 108
    • 84861640948 scopus 로고    scopus 로고
    • CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
    • Panizzi J.R., Becker-Heck A., Castleman V.H., et al. CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. Nature genetics 2012, 44(6):714-719.
    • (2012) Nature genetics , vol.44 , Issue.6 , pp. 714-719
    • Panizzi, J.R.1    Becker-Heck, A.2    Castleman, V.H.3
  • 109
    • 71149086940 scopus 로고    scopus 로고
    • Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects
    • Loges N.T., Olbrich H., Becker-Heck A., et al. Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet 2009, 85(6):883-889.
    • (2009) Am J Hum Genet , vol.85 , Issue.6 , pp. 883-889
    • Loges, N.T.1    Olbrich, H.2    Becker-Heck, A.3
  • 110
    • 84883446171 scopus 로고    scopus 로고
    • DYX1C1 is required for axonemal dynein assembly and ciliary motility
    • Tarkar A., Loges N.T., Slagle C.E., et al. DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nature genetics 2013, 45(9):995-1003.
    • (2013) Nature genetics , vol.45 , Issue.9 , pp. 995-1003
    • Tarkar, A.1    Loges, N.T.2    Slagle, C.E.3
  • 111
    • 78651254549 scopus 로고    scopus 로고
    • The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
    • Becker-Heck A., Zohn I.E., Okabe N., et al. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nature genetics 2011, 43(1):79-84.
    • (2011) Nature genetics , vol.43 , Issue.1 , pp. 79-84
    • Becker-Heck, A.1    Zohn, I.E.2    Okabe, N.3
  • 112
    • 84874658994 scopus 로고    scopus 로고
    • The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
    • Wirschell M., Olbrich H., Werner C., et al. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Nature genetics 2013, 45(3):262-268.
    • (2013) Nature genetics , vol.45 , Issue.3 , pp. 262-268
    • Wirschell, M.1    Olbrich, H.2    Werner, C.3
  • 113
    • 84867244938 scopus 로고    scopus 로고
    • Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
    • Olbrich H., Schmidts M., Werner C., et al. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. American journal of human genetics 2012, 91(4):672-684.
    • (2012) American journal of human genetics , vol.91 , Issue.4 , pp. 672-684
    • Olbrich, H.1    Schmidts, M.2    Werner, C.3
  • 114
    • 84901651947 scopus 로고    scopus 로고
    • Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia
    • Wallmeier J., Al-Mutairi D.A., Chen C.T., et al. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. Nature genetics 2014, 46(6):646-651.
    • (2014) Nature genetics , vol.46 , Issue.6 , pp. 646-651
    • Wallmeier, J.1    Al-Mutairi, D.A.2    Chen, C.T.3
  • 115
    • 33746990273 scopus 로고    scopus 로고
    • A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome
    • Budny B., Chen W., Omran H., et al. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome. Hum Genet 2006, 120(2):171-178.
    • (2006) Hum Genet , vol.120 , Issue.2 , pp. 171-178
    • Budny, B.1    Chen, W.2    Omran, H.3
  • 116
    • 33645765214 scopus 로고    scopus 로고
    • RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa
    • Moore A., Escudier E., Roger G., et al. RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. J Med Genet 2006, 43(4):326-333.
    • (2006) J Med Genet , vol.43 , Issue.4 , pp. 326-333
    • Moore, A.1    Escudier, E.2    Roger, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.