-
1
-
-
36849090559
-
Primary ciliary dyskinesia: Current state of the art
-
Bush A, Chodhari R, Collins N, et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child 2007; 92: 1136-1140.
-
(2007)
Arch Dis Child
, vol.92
, pp. 1136-1140
-
-
Bush, A.1
Chodhari, R.2
Collins, N.3
-
2
-
-
34548268622
-
Primary ciliary dyskinesia in the paediatric population: Range and severity of radiological findings in a cohort of patients receiving tertiary care
-
DOI 10.1016/j.crad.2007.04.015, PII S0009926007002085
-
Jain K, Padley SP, Goldstraw EJ, et al. Primary ciliary dyskinesia in the paediatric population: range and severity of radiological findings in a cohort of patients receiving tertiary care. Clin Radiol 2007; 62: 986-993. (Pubitemid 47317140)
-
(2007)
Clinical Radiology
, vol.62
, Issue.10
, pp. 986-993
-
-
Jain, K.1
Padley, S.P.G.2
Goldstraw, E.J.3
Kidd, S.J.4
Hogg, C.5
Biggart, E.6
Bush, A.7
-
3
-
-
0034107313
-
Primary ciliary dyskinesia (PCD)
-
Meeks M, Bush A. Primary ciliary dyskinesia (PCD). Pediatr Pulmonol 2000; 29: 307-316.
-
(2000)
Pediatr Pulmonol
, vol.29
, pp. 307-316
-
-
Meeks, M.1
Bush, A.2
-
4
-
-
0442313529
-
Primary Ciliary Dyskinesia: Diagnostic and Phenotypic Features
-
Noone PG, Leigh MW, Sannuti A, et al. Primary ciliary dyskinesia: diagnostic and phenotypic features. Am J Respir Crit Care Med 2004; 169: 459-467. (Pubitemid 38187117)
-
(2004)
American Journal of Respiratory and Critical Care Medicine
, vol.169
, Issue.4
, pp. 459-467
-
-
Noone, P.G.1
Leigh, M.W.2
Sannuti, A.3
Minnix, S.L.4
Carson, J.L.5
Hazucha, M.6
Zariwala, M.A.7
Knowles, M.R.8
-
5
-
-
34547803678
-
Diagnosing primary ciliary dyskinesia
-
O'Callaghan C, Chilvers M, Hogg C, et al. Diagnosing primary ciliary dyskinesia. Thorax 2007; 62: 656-657.
-
(2007)
Thorax
, vol.62
, pp. 656-657
-
-
O'Callaghan, C.1
Chilvers, M.2
Hogg, C.3
-
7
-
-
76149089851
-
Diagnostic testing of patients suspected of primary ciliary dyskinesia
-
Stannard WA, Chilvers MA, Rutman AR, et al. Diagnostic testing of patients suspected of primary ciliary dyskinesia. Am J Respir Crit Care Med 2010; 181: 307-314.
-
(2010)
Am J Respir Crit Care Med
, vol.181
, pp. 307-314
-
-
Stannard, W.A.1
Chilvers, M.A.2
Rutman, A.R.3
-
8
-
-
35448961665
-
Cilia: Hair-like oganelles with many links to disease
-
Fliegauf M, Benzing T, Omran H. Cilia: hair-like oganelles with many links to disease. Nat Rev Mol Cell Bio 2007; 8: 880-893.
-
(2007)
Nat Rev Mol Cell Bio
, vol.8
, pp. 880-893
-
-
Fliegauf, M.1
Benzing, T.2
Omran, H.3
-
9
-
-
0036062162
-
Primary ciliary dyskinesia: Age at diagnosis and symptom history
-
DOI 10.1080/080352502760069089
-
CorenME,MeeksM,Morrison I, et al. Primary ciliary dyskinesia: age at diagnosis and symptom history. Acta Paediatr 2002; 91: 667-669. (Pubitemid 34779328)
-
(2002)
Acta Paediatrica, International Journal of Paediatrics
, vol.91
, Issue.6
, pp. 667-669
-
-
Coren, M.E.1
Meeks, M.2
Morrison, I.3
Buchdahl, R.M.4
Bush, A.5
-
10
-
-
33746339499
-
Prevalence and genetics of immotile-cilia syndrome and left-handedness
-
DOI 10.1387/ijdb.052132ba
-
Afzelius BA, Stenram U. Prevalence and genetics of immotile-cilia syndrome and left-handedness. Int J Dev Biol 2006; 50: 571-573. (Pubitemid 44114043)
-
(2006)
International Journal of Developmental Biology
, vol.50
, Issue.6
, pp. 571-573
-
-
Afzelius, B.A.1
Stenram, U.2
-
11
-
-
0015268673
-
Situs inversus totalis and Kartagener's syndrome in a Japanese population
-
Katsuhara K, Kawamoto S, Wakabayashi T, et al. Situs inversus totalis and Kartagener's syndrome in a Japanese population. Chest 1972; 61: 56-61.
-
(1972)
Chest
, vol.61
, pp. 56-61
-
-
Katsuhara, K.1
Kawamoto, S.2
Wakabayashi, T.3
-
12
-
-
84907132626
-
Transportation of viscera bronchiectasis and nasal polyps, genetical analysis and contribution to the problem of constitution
-
Torgersen J. Transportation of viscera bronchiectasis and nasal polyps, genetical analysis and contribution to the problem of constitution. Acta Radiol 1947; 28: 17-24.
-
(1947)
Acta Radiol
, vol.28
, pp. 17-24
-
-
Torgersen, J.1
-
13
-
-
75349105467
-
High prevalence of primary ciliary dyskinesia in a British Asian population
-
O'Callaghan C, Chetcuti P, Moya E. High prevalence of primary ciliary dyskinesia in a British Asian population. Arch Dis Child 2010; 95: 51-52.
-
(2010)
Arch Dis Child
, vol.95
, pp. 51-52
-
-
O'Callaghan, C.1
Chetcuti, P.2
Moya, E.3
-
14
-
-
73249125649
-
Primary ciliary dyskinesia: A consensus statement on diagnostic and treatment approaches in children
-
Barbato A, Frischer T, Kuehni CE, et al. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J 2009; 34: 1264-1276.
-
(2009)
Eur Respir J
, vol.34
, pp. 1264-1276
-
-
Barbato, A.1
Frischer, T.2
Kuehni, C.E.3
-
15
-
-
78649756898
-
-
Date last updated: December 12, Date last accessed: February 6, 2009
-
U.S. Census Bureau International Data Base (IDB). www.census. gov/ipc/www/idb/ Date last updated: December 12, 2008. Date last accessed: February 6, 2009.
-
(2008)
-
-
-
16
-
-
78649740181
-
-
Date last updated: March 11, 2009. Date last accessed: February 6, 2009
-
United Nations, 2005. Definition of major areas and regions. http://esa.un.org/unpp/index.asp?panel=5 Date last updated: March 11, 2009. Date last accessed: February 6, 2009.
-
(2005)
Definition of Major Areas and Regions
-
-
-
17
-
-
24944544131
-
-
Date last updated: February 6, Date last accessed: February 6, 2009
-
WHO. WHO Statistical Information System (WHOSIS). www.who.int/whosis/en/ Date last updated: February 6, 2009. Date last accessed: February 6, 2009.
-
(2009)
WHO Statistical Information System (WHOSIS)
-
-
-
18
-
-
33745748480
-
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: 120-126.
-
(2006)
Am J Respir Crit Care Med
, vol.174
, pp. 120-126
-
-
Hornef, N.1
Olbrich, H.2
Horvath, J.3
-
19
-
-
38949108779
-
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
-
Schwabe GC, Hoffmann K, Loges NT, et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat 2008; 29: 289-298.
-
(2008)
Hum Mutat
, vol.29
, pp. 289-298
-
-
Schwabe, G.C.1
Hoffmann, K.2
Loges, N.T.3
-
20
-
-
0042235314
-
Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia
-
DOI 10.1016/S0091-6749(03)01799-8
-
Chilvers MA, Rutman A, O'Callaghan C. Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia. J Allergy Clin Immunol 2003; 112: 518-524. (Pubitemid 37108555)
-
(2003)
Journal of Allergy and Clinical Immunology
, vol.112
, Issue.3
, pp. 518-524
-
-
Chilvers, M.A.1
Rutman, A.2
O'Callaghan, C.3
-
21
-
-
34247598971
-
Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia
-
Kennedy MP, Omran H, Leigh MW, et al. Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. Circulation 2007; 115: 2814-2821.
-
(2007)
Circulation
, vol.115
, pp. 2814-2821
-
-
Kennedy, M.P.1
Omran, H.2
Leigh, M.W.3
-
22
-
-
33846143502
-
Prospectively assessed incidence, severity, and determinants of respiratory symptoms in the first year of life
-
DOI 10.1002/ppul.20542
-
Latzin P, Frey U, Roiha HL, et al. Prospectively assessed incidence, severity, and determinants of respiratory symptoms in the first year of life. Pediatr Pulmonol 2007; 42: 41-50. (Pubitemid 46080152)
-
(2007)
Pediatric Pulmonology
, vol.42
, Issue.1
, pp. 41-50
-
-
Latzin, P.1
Frey, U.2
Roiha, H.L.3
Baldwin, D.M.4
Regamey, N.5
Strippoli, M.-P.F.6
Zwahlen, M.7
Kuehni, C.E.8
-
23
-
-
0029268614
-
The Yentl syndrome in childhood asthma: Risk factors for undertreatment in Swiss children
-
Kühni CE, Sennhauser FH. The Yentl syndrome in childhood asthma: risk factors for undertreatment in Swiss children. Pediatr Pulmonol 1995; 19: 156-160.
-
(1995)
Pediatr Pulmonol
, vol.19
, pp. 156-160
-
-
Kühni, C.E.1
Sennhauser, F.H.2
-
24
-
-
33746990273
-
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: 171-178.
-
(2006)
Hum Genet
, vol.120
, pp. 171-178
-
-
Budny, B.1
Chen, W.2
Omran, H.3
-
25
-
-
33645765214
-
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: 326-333.
-
(2006)
J Med Genet
, vol.43
, pp. 326-333
-
-
Moore, A.1
Escudier, E.2
Roger, G.3
-
26
-
-
0026514159
-
A family with RP3 type of X-linked retinitis pigmentosa: An association with ciliary abnormalities
-
van Dorp DB, Wright AF, Carothers AD, et al. A family with RP3 type of X-linked retinitis pigmentosa: an association with ciliary abnormalities. Hum Genet 1992; 88: 331-334.
-
(1992)
Hum Genet
, vol.88
, pp. 331-334
-
-
Van Dorp, D.B.1
Wright, A.F.2
Carothers, A.D.3
-
27
-
-
0030698259
-
Longitudinal study of lung function in a cohort of primary ciliary dyskinesia
-
DOI 10.1183/09031936.97.10102376
-
Ellerman A, Bisgaard H. Longitudinal study of lung function in a cohort of primary ciliary dyskinesia. Eur Respir J 1997; 10: 2376-2379. (Pubitemid 27479564)
-
(1997)
European Respiratory Journal
, vol.10
, Issue.10
, pp. 2376-2379
-
-
Ellerman, A.1
Bisgaard, H.2
-
28
-
-
77954748919
-
Lung function in patients with primary ciliary dyskinesia. A cross sectional and three-decade longitudinal study
-
Marthin JK, Petersen N, Skovgaard LT, et al. Lung function in patients with primary ciliary dyskinesia. A cross sectional and three-decade longitudinal study. Am J Respir Crit Care Med 2010; 181: 1262-1268.
-
(2010)
Am J Respir Crit Care Med
, vol.181
, pp. 1262-1268
-
-
Marthin, J.K.1
Petersen, N.2
Skovgaard, L.T.3
-
29
-
-
34047269755
-
Economic implications of newborn screening for cystic fibrosis: A cost of illness retrospective cohort study
-
DOI 10.1016/S0140-6736(07)60565-0, PII S0140673607605650
-
Sims EJ, Mugford M, Clark A, et al. Economic implications of newborn screening for cystic fibrosis: a cost of illness retrospective cohort study. Lancet 2007; 369: 1187-1195. (Pubitemid 46546435)
-
(2007)
Lancet
, vol.369
, Issue.9568
, pp. 1187-1195
-
-
Sims, E.J.1
Mugford, M.2
Clark, A.3
Aitken, D.4
McCormick, J.5
Mehta, G.6
Mehta, A.7
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