User profiles for "author:Claire Hogg"

Claire Hogg

Consultant in Paediatric Respiratory Medicine, Royal Brompton Hospital
Verified email at rbht.nhs.uk
Cited by 6611

Primary ciliary dyskinesia: current state of the art

A Bush, R Chodhari, N Collins, F Copeland… - Archives of disease in …, 2007 - adc.bmj.com
Primary ciliary dyskinesia (PCD) is usually inherited as an autosomal recessive disorder and
presents with upper and lower respiratory tract infection, and mirror image arrangement in …

Diagnosis and management of primary ciliary dyskinesia

JS Lucas, A Burgess, HM Mitchison, E Moya… - Archives of disease in …, 2014 - adc.bmj.com
Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder of motile cilia
characterised by chronic lung disease, rhinosinusitis, hearing impairment and subfertility …

Nitric oxide in primary ciliary dyskinesia

WT Walker, CL Jackson, PM Lackie… - European …, 2012 - Eur Respiratory Soc
Nitric oxide is continually synthesised in the respiratory epithelium and is upregulated in
response to infection or inflammation. Primary ciliary dyskinesia (PCD) is characterised by …

European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia

JS Lucas, A Barbato, SA Collins… - European …, 2017 - Eur Respiratory Soc
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex
and expensive, tests. In many cases, however, the diagnosis remains difficult despite the …

[PDF][PDF] 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… - The American Journal of …, 2009 - cell.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous inherited disorder arising
from dysmotility of motile cilia and sperm. This is associated with a variety of ultrastructural …

PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia

L Behan, BD Dimitrov, CE Kuehni… - European respiratory …, 2016 - Eur Respiratory Soc
Symptoms of primary ciliary dyskinesia (PCD) are nonspecific and guidance on whom to
refer for testing is limited. Diagnostic tests for PCD are highly specialised, requiring …

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… - Human …, 2013 - Wiley Online Library
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder caused by cilia
and sperm dysmotility. About 12% of cases show perturbed 9+ 2 microtubule cilia structure …

[PDF][PDF] 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… - The American Journal of …, 2013 - cell.com
Defects in motile cilia and sperm flagella cause primary ciliary dyskinesia (PCD),
characterized by chronic airway disease, infertility, and left-right laterality disturbances …

[PDF][PDF] 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… - The American Journal of …, 2013 - cell.com
Primary ciliary dyskinesia (PCD) is a ciliopathy characterized by airway disease, infertility,
and laterality defects, often caused by dual loss of the inner dynein arms (IDAs) and outer …

[PDF][PDF] De novo mutations in FOXJ1 result in a motile ciliopathy with hydrocephalus and randomization of left/right body asymmetry

J Wallmeier, D Frank, A Shoemark… - The American Journal of …, 2019 - cell.com
Hydrocephalus is one of the most prevalent form of developmental central nervous system
(CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body …