User profiles for "author:Claire Hogg"
Claire HoggConsultant 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 …
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 …
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 …
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 …
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 …
from dysmotility of motile cilia and sperm. This is associated with a variety of ultrastructural …
PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia
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 …
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 …
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 …
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
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 …
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 …
(CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body …