Eddie M K Chung
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Explore the profile of Eddie M K Chung including associated specialties, affiliations and a list of published articles.
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Articles
26
Citations
2003
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0
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Recent Articles
1.
Fassad M, Patel M, Shoemark A, Cullup T, Hayward J, Dixon M, et al.
J Med Genet
. 2019 Dec;
57(5):322-330.
PMID: 31879361
Background: Primary ciliary dyskinesia (PCD), a genetically heterogeneous condition enriched in some consanguineous populations, results from recessive mutations affecting cilia biogenesis and motility. Currently, diagnosis requires multiple expert tests. Methods:...
2.
Fassad M, Shoemark A, Le Borgne P, Koll F, Patel M, Dixon M, et al.
Am J Hum Genet
. 2018 May;
102(5):956-972.
PMID: 29727692
Primary ciliary dyskinesia (PCD) is a genetically and phenotypically heterogeneous disorder characterized by destructive respiratory disease and laterality abnormalities due to randomized left-right body asymmetry. PCD is mostly caused by...
3.
Shoemark A, Burgoyne T, Kwan R, Dixon M, Patel M, Rogers A, et al.
Eur Respir J
. 2018 Feb;
51(2).
PMID: 29467202
In primary ciliary dyskinesia (PCD), motile ciliary dysfunction arises from ciliary defects usually confirmed by transmission electron microscopy (TEM). In 30% of patients, such as those with mutations, apparently normal...
4.
Shoemark A, Moya E, Hirst R, Patel M, Robson E, Hayward J, et al.
Thorax
. 2017 Aug;
73(2):157-166.
PMID: 28790179
Rationale: Primary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence...
5.
Olcese C, Patel M, Shoemark A, Kiviluoto S, Legendre M, Williams H, et al.
Nat Commun
. 2017 Feb;
8:14279.
PMID: 28176794
By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliary clearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is...
6.
Everett K, Ataliotis P, Chioza B, Shaw-Smith C, Chung E
Pediatr Res
. 2016 Nov;
81(4):632-638.
PMID: 27855150
Background: The aim was to identify susceptibility alleles for infantile hypertrophic pyloric stenosis (IHPS) in a pedigree previously linked to IHPS5 on chromosome 16q24. Methods: We screened the positional and...
7.
Hjeij R, Onoufriadis A, Watson C, Slagle C, Klena N, Dougherty G, et al.
Am J Hum Genet
. 2014 Sep;
95(3):257-74.
PMID: 25192045
A diverse family of cytoskeletal dynein motors powers various cellular transport systems, including axonemal dyneins generating the force for ciliary and flagellar beating essential to movement of extracellular fluids and...
8.
Boon M, Wallmeier J, Ma L, Loges N, Jaspers M, Olbrich H, et al.
Nat Commun
. 2014 Jul;
5:4418.
PMID: 25048963
Reduced generation of multiple motile cilia (RGMC) is a rare mucociliary clearance disorder. Affected persons suffer from recurrent infections of upper and lower airways because of highly reduced numbers of...
9.
Onoufriadis A, Shoemark A, Schmidts M, Patel M, Jimenez G, Liu H, et al.
Hum Mol Genet
. 2014 Feb;
23(13):3362-74.
PMID: 24518672
Primary ciliary dyskinesia (PCD) is an inherited chronic respiratory obstructive disease with randomized body laterality and infertility, resulting from cilia and sperm dysmotility. PCD is characterized by clinical variability and...
10.
Onoufriadis A, Shoemark A, Munye M, James C, Schmidts M, Patel M, et al.
J Med Genet
. 2013 Nov;
51(1):61-7.
PMID: 24203976
Background: Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is...