[HTML][HTML] Cystic Lung Changes, Bronchiectasis, and a Heterozygous-Primary Ciliary Dyskinesia-Associated Variant in the DNAH5 Gene: A Diagnostic Challenge

M Albalawi, A Al-Shamrani, AS Mohamed… - The American Journal …, 2024 - ncbi.nlm.nih.gov
Objective: Unknown etiology Background: Primary ciliary dyskinesia (PCD) is a rare
autosomal recessive disease that can present at different ages with different phenotypes …

Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia

G Kano, H Tsujii, K Takeuchi… - Molecular …, 2016 - spandidos-publications.com
Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by structural and/or
functional impairment of cilia throughout the whole body. Early diagnosis of PCD is …

[HTML][HTML] Dual-allele heterozygous mutation of DNAH5 gene in a boy with primary ciliary dyskinesia: A case report

Y Shi, Q Lei, Q Han - Medicine, 2023 - journals.lww.com
Interventions: Pulmonary function testing showed mixed ventilation dysfunction and positive
for bronchial dilation test. Imaging examination and fiberoptic bronchoscopy revealed …

Variation in DNAH1 may contribute to primary ciliary dyskinesia

F Imtiaz, R Allam, K Ramzan, M Al-Sayed - BMC medical genetics, 2015 - Springer
Abstract Background Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous
ciliopathy caused by ultrastructural defects in ciliary or flagellar structure and is …

A novel compound heterozygous mutation in the DNAH11 gene found in neonatal twins with primary ciliary dyskinesis

S Dong, F Bei, T Yu, L Sun, X Chen, H Yan - Frontiers in Genetics, 2022 - frontiersin.org
Background: Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder
of motile cilia. Common features of PCD include upper and lower respiratory tract disease …

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

MR Knowles, MW Leigh, JL Carson, SD Davis, SD Dell… - Thorax, 2012 - thorax.bmj.com
Rationale Primary ciliary dyskinesia (PCD) is an autosomal recessive, genetically
heterogeneous disorder characterised by oto-sino-pulmonary disease and situs …

A Japanese case of primary ciliary dyskinesia with DNAH5 mutations

M Orimo, M Kondo, K Takeyama, K Abe, A Miyoshi… - Internal …, 2019 - jstage.jst.go.jp
A 33-year-old woman presented with a productive cough from childhood. She had suffered
from repeated bacterial pneumonia. Her clinical and imaging findings revealed chronic …

Genetic causes of bronchiectasis: primary ciliary dyskinesia

HN Morillas, M Zariwala, MR Knowles - Respiration, 2007 - karger.com
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder reflecting
abnormalities in the structure and function of motile cilia and flagella, causing impairment of …

A novel compound heterozygous mutation in DNAH5 in a Korean neonate with primary ciliary dyskinesia

NW Lee, JE Jeong, YY Jang… - Allergy, Asthma & …, 2019 - synapse.koreamed.org
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease affecting motile
cilia. A female neonate was hospitalized with respiratory distress 72 hours after birth and …

Novel pathogenic variants in DNAH5 associated with Clinical and Genetic Spectrum of Primary Ciliary Dyskinesia in an Arab population

D Al-Mutairi, B Alsabah, P Pennekamp, H Omran - Frontiers in Genetics - frontiersin.org
Introduction: Primary ciliary dyskinesia (PCD) is caused by dysfunction of motile cilia
resulting in insufficient mucociliary clearance of the lungs. The aim of this study is to map …