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1.
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.
Am J Hum Genet
; 103(5): 727-739, 2018 11 01.
Article
in English
| MEDLINE | ID: mdl-30388400
2.
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
J Med Genet
; 57(5): 322-330, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31879361
3.
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hum Mol Genet
; 27(3): 529-545, 2018 02 01.
Article
in English
| MEDLINE | ID: mdl-29228333
4.
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
Thorax
; 73(2): 157-166, 2018 02.
Article
in English
| MEDLINE | ID: mdl-28790179
5.
CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Am J Hum Genet
; 95(3): 257-74, 2014 Sep 04.
Article
in English
| MEDLINE | ID: mdl-25192045
6.
Improvement in lung health in primary ciliary dyskinesia.
J Paediatr Child Health
; 58(3): 526-528, 2022 Mar.
Article
in English
| MEDLINE | ID: mdl-33978293
7.
Overcoming challenges in the management of primary ciliary dyskinesia: the UK model.
Paediatr Respir Rev
; 15(2): 142-5, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-23764568
8.
Infant care practices related to sudden infant death syndrome in South Asian and White British families in the UK.
Paediatr Perinat Epidemiol
; 26(1): 3-12, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22150702
9.
Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.
Neurol Genet
; 6(4): e482, 2020 Aug.
Article
in English
| MEDLINE | ID: mdl-32802948
10.
Clinical features and management of children with primary ciliary dyskinesia in England.
Arch Dis Child
; 105(8): 724-729, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32156696
11.
Oxigenación de músculos respiratorios y locomotores durante el test cardiopulmonar en pacientes con circulación de fontan: serie de casos / Patients with fontan: oxygen consumption in respiratory and Locomotor muscles during excersie testing
Rev. chil. cardiol
; 40(1): 27-36, abr. 2021. ilus, tab, graf
Article
in Spanish
| LILACS | ID: biblio-1388075
12.
Case-control study of craniomandibular disorders in patients with fibromyalgia.
J Clin Exp Dent
; 7(2): e293-8, 2015 Apr.
Article
in English
| MEDLINE | ID: mdl-26155349
13.
Saline in acute bronchiolitis RCT and economic evaluation: hypertonic saline in acute bronchiolitis - randomised controlled trial and systematic review.
Health Technol Assess
; 19(66): 1-130, 2015 Aug.
Article
in English
| MEDLINE | ID: mdl-26295732
14.
Diagnosis and management of primary ciliary dyskinesia.
Arch Dis Child
; 99(9): 850-6, 2014 Sep.
Article
in English
| MEDLINE | ID: mdl-24771309
15.
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia.
Nat Commun
; 5: 4418, 2014 Jul 22.
Article
in English
| MEDLINE | ID: mdl-25048963
16.
Imaging Lung Function Abnormalities in Primary Ciliary Dyskinesia Using Hyperpolarized Gas Ventilation MRI.
Ann Am Thorac Soc
; 15(12): 1487-1490, 2018 12.
Article
in English
| MEDLINE | ID: mdl-29684285
17.
Bed- and sofa-sharing practices in a UK biethnic population.
Pediatrics
; 129(3): e673-81, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22351888
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