Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure. - Wikidata - wikimedia - TriplyDB

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

http://www.wikidata.org/entity/Q30577804

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Clinical spectrum of primary ciliary dyskinesia in childhood Orphan diseases of the nose and paranasal sinuses: Pathogenesis - clinic - therapy Accuracy of diagnostic testing in primary ciliary dyskinesia Diagnostic Support for Selected Paediatric Pulmonary Diseases Using Answer-Pattern Recognition in Questionnaires Based on Combined Data Mining Applications--A Monocentric Observational Pilot Study Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities.Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies Recent advances in primary ciliary dyskinesia genetics.Diagnosis and management of primary ciliary dyskinesia.Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results.Clinical care of children with primary ciliary dyskinesia.European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.Nasal versus tracheobronchial biopsies to diagnose primary ciliary dyskinesia: A meta-analysis.Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia.Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents.Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia.Lung structure-function correlation in patients with primary ciliary dyskinesia.Absence or mislocalization of DNAH5 is a characteristic marker for motile ciliary abnormality in nasal polyps.Applications of emerging transmission electron microscopy technology in PCD research and diagnosis.Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure.Application of laboratory and digital techniques for visual enhancement during the ultrastructural assessment of cilia.Should transmission electron microscopy and ultrastructural cilia evaluation remain part of the diagnostic work-up for primary ciliary dyskinesia?Clinical phenotype and current diagnostic criteria for primary ciliary dyskinesia.Clinical analysis of patients with primary ciliary dyskinesia in mainland China.Airway ciliary dysfunction and sinopulmonary symptoms in patients with congenital heart disease.

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P2860

Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

http://www.wikidata.org/entity/Q30577804

description

2014 nî lūn-bûn

@nan

2014 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի հունվարին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Primary ciliary dyskinesia: cr ...... l and abnormal ultrastructure.

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Primary ciliary dyskinesia: cr ...... l and abnormal ultrastructure.

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type

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Primary ciliary dyskinesia: cr ...... l and abnormal ultrastructure.

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Primary ciliary dyskinesia: cr ...... l and abnormal ultrastructure.

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Primary ciliary dyskinesia: cr ...... l and abnormal ultrastructure.

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Primary ciliary dyskinesia: cr ...... l and abnormal ultrastructure.

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P1433

Orphanet Journal of Rare Diseases

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Primary ciliary dyskinesia: cr ...... l and abnormal ultrastructure.

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P2093

Anne Malfroot

http://www.w3.org/2001/XMLSchema#string

Francois L Vermeulen

http://www.w3.org/2001/XMLSchema#string

Harry Cuppens

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Kris De Boeck

http://www.w3.org/2001/XMLSchema#string

Lieven J Dupont

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Marijke Proesmans

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Mark Jorissen

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Martine Jaspers

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Sabine Van Daele

http://www.w3.org/2001/XMLSchema#string

Veronique Godding

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P2860

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

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia

Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.

CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.

CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia

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10.1186/1750-1172-9-11

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