Amelia Shoemark
Amelia Shoemark
University of Dundee and Royal Brompton Hospital
Bestätigte E-Mail-Adresse bei rbht.nhs.uk - Startseite
Titel
Zitiert von
Zitiert von
Jahr
Aetiology in adult patients with bronchiectasis
A Shoemark, L Ozerovitch, R Wilson
Respiratory medicine 101 (6), 1163-1170, 2007
2822007
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities
VH Castleman, L Romio, R Chodhari, RA Hirst, SCP de Castro, KA Parker, ...
The American Journal of Human Genetics 84 (2), 197-209, 2009
2502009
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia
JS Lucas, A Barbato, SA Collins, M Goutaki, L Behan, D Caudri, S Dell, ...
European Respiratory Journal 49 (1), 2017
2422017
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
H Olbrich, M Schmidts, C Werner, A Onoufriadis, NT Loges, J Raidt, ...
The American Journal of Human Genetics 91 (4), 672-684, 2012
2352012
Diagnosis and management of primary ciliary dyskinesia
JS Lucas, A Burgess, HM Mitchison, E Moya, M Williamson, C Hogg
Archives of disease in childhood 99 (9), 850-856, 2014
1852014
Impaired innate interferon induction in severe therapy resistant atopic asthmatic children
MR Edwards, N Regamey, M Vareille, E Kieninger, A Gupta, A Shoemark, ...
Mucosal immunology 6 (4), 797-806, 2013
1592013
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia
A Onoufriadis, T Paff, D Antony, A Shoemark, D Micha, B Kuyt, ...
The American Journal of Human Genetics 92 (1), 88-98, 2013
1412013
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia
DJ Moore, A Onoufriadis, A Shoemark, MA Simpson, PI Zur Lage, ...
The American Journal of Human Genetics 93 (2), 346-356, 2013
1332013
Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
D Antony, A Becker‐Heck, MA Zariwala, M Schmidts, A Onoufriadis, ...
Human mutation 34 (3), 462-472, 2013
1142013
Pseudomonas aeruginosa, cyanide accumulation and lung function in CF and non-CF bronchiectasis patients
B Ryall, JC Davies, R Wilson, A Shoemark, HD Williams
European Respiratory Journal 32 (3), 740-747, 2008
1042008
Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia
A Shoemark, M Dixon, B Corrin, A Dewar
Journal of clinical pathology 65 (3), 267-271, 2012
1002012
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
C Olcese, MP Patel, A Shoemark, S Kiviluoto, M Legendre, HJ Williams, ...
Nature communications 8 (1), 1-15, 2017
792017
Assessment of F/HN-Pseudotyped Lentivirus as a Clinically Relevant Vector for Lung Gene Therapy
U Griesenbach, M Inoue, C Meng, R Farley, M Chan, NK Newman, ...
American Journal of Respiratory and Critical Care Medicine, 2012
782012
Increased nuclear suppressor of cytokine signaling 1 in asthmatic bronchial epithelium suppresses rhinovirus induction of innate interferons
V Gielen, A Sykes, J Zhu, B Chan, J Macintyre, N Regamey, E Kieninger, ...
Journal of allergy and clinical immunology 136 (1), 177-188. e11, 2015
732015
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
A Onoufriadis, A Shoemark, MM Munye, CT James, M Schmidts, M Patel, ...
Journal of medical genetics 51 (1), 61-67, 2014
712014
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial …
A Onoufriadis, A Shoemark, M Schmidts, M Patel, G Jimenez, H Liu, ...
Human molecular genetics 23 (13), 3362-3374, 2014
702014
HEATR2 plays a conserved role in assembly of the ciliary motile apparatus
CP Diggle, DJ Moore, G Mali, P zur Lage, A Ait-Lounis, M Schmidts, ...
PLoS Genet 10 (9), e1004577, 2014
652014
A longitudinal study characterising a large adult primary ciliary dyskinesia population
A Shah, A Shoemark, SJ MacNeill, B Bhaludin, A Rogers, D Bilton, ...
European Respiratory Journal 48 (2), 441-450, 2016
612016
Accuracy of immunofluorescence in the diagnosis of primary ciliary dyskinesia
A Shoemark, E Frost, M Dixon, S Ollosson, K Kilpin, M Patel, J Scully, ...
American journal of respiratory and critical care medicine 196 (1), 94-101, 2017
562017
Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa
AE Davidson, N Schwarz, L Zelinger, G Stern-Schneider, A Shoemark, ...
The American Journal of Human Genetics 93 (2), 321-329, 2013
532013
Das System kann den Vorgang jetzt nicht ausführen. Versuchen Sie es später erneut.
Artikel 1–20