Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. - Wikidata - wikimedia - TriplyDB

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

http://www.wikidata.org/entity/Q34448317

about

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation Clinical spectrum of primary ciliary dyskinesia in childhood PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia.Airway Epithelial Cell Cilia and Obstructive Lung Disease Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function A quality-of-life measure for adults with primary ciliary dyskinesia: QOL-PCD X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.Recent advances in primary ciliary dyskinesia genetics.Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey.Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.Genetics, diagnosis, and future treatment strategies for primary ciliary dyskinesia.Successful Obstetric Outcome in Dextrocardia with Situs Inversus and Moderate Pulmonary Hypertension- Rare Case.The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results.Hepatocellular carcinoma in situs ambiguus: CT findings of a rare disposition.Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome.Genetic basis of human left-right asymmetry disorders.Clinical care of children with primary ciliary dyskinesia.Coexisting Situs Inversus Totalis and Immune Thrombocytopenic Purpura The patient's experience of primary ciliary dyskinesia: a systematic review.Cilia in vertebrate left-right patterning.Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents.Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia - bench, bedside, and population perspectives.Racial disparities in heterotaxy syndrome.Toward an Earlier Diagnosis of Primary Ciliary Dyskinesia. Which Patients Should Undergo Detailed Diagnostic Testing?An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report.Primary ciliary dyskinesia: mechanisms and management.Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD).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.Noncompaction cardiomyopathy and heterotaxy syndrome.Clinical phenotype and current diagnostic criteria for primary ciliary dyskinesia.Cilia and Ciliopathies in Congenital Heart Disease.Primary Ciliary Dyskinesia.Airway ciliary dysfunction and sinopulmonary symptoms in patients with congenital heart disease.ZMYND10 stabilizes intermediate chain proteins in the cytoplasmic pre-assembly of dynein arms.Copy number variation as a genetic basis for heterotaxy and heterotaxy-spectrum congenital heart defects.

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P2860

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.

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2014 nî lūn-bûn

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2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած

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2014 թվականի նոյեմբերին հրատարակված գիտական հոդված

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Blair Robinson

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Carlos Milla

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Genetic Disorders of Mucociliary Clearance Consortium

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Johnny L Carson

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Kenneth N Olivier

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Kimberlie Burns

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Maimoona A Zariwala

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Margaret Rosenfeld

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Margaret W Leigh

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Michael R Knowles

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P2860

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations

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

High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

When cilia go bad: cilia defects and ciliopathies

Risk factors for heart disease associated with abnormal sidedness.

Clinical aspects of defects in the determination of laterality.

ATS/ERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005.

Situs inversus, asymmetry, and twinning.

The ciliary protein Ftm is required for ventricular wall and septal development.

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10.1378/CHEST.13-1704

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