Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype - Test2 - elhamkhani - TriplyDB

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

http://www.wikidata.org/entity/Q35153440

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Clinical spectrum of primary ciliary dyskinesia in childhood Genetics and biology of 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 Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography.Lung structure and function similarities between primary ciliary dyskinesia and mild cystic fibrosis: a 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 A NIMA-Related Kinase Suppresses the Flagellar Instability Associated with the Loss of Multiple Axonemal Structures.Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy Primary ciliary dyskinesia and associated sensory ciliopathies Primary Ciliary Dyskinesia: First Health-related Quality-of-Life Measures for Pediatric Patients.The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results.Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.Recent advances in paediatric respiratory medicine.Update in Pediatric Lung Disease 2014.Clinical care of children with primary ciliary dyskinesia.Lung Clearance Index (LCI) is Stable in Most Primary Ciliary Dyskinesia (PCD) Patients Managed in a Specialist Centre: a Pilot Study.Accelerating Scientific Advancement for Pediatric Rare Lung Disease Research. Report from a National Institutes of Health-NHLBI Workshop, September 3 and 4, 2015.European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia.The evolving spectrum of ciliopathies and respiratory disease.Pediatric pulmonology year in review 2015: Part 3.Motile and non-motile cilia in human pathology: from function to phenotypes.Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.Chronic Suppurative Lung Disease in Children: Definition and Spectrum of Disease.Interstitial lung disease in newborns.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.Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia.Toward an Earlier Diagnosis of Primary Ciliary Dyskinesia. Which Patients Should Undergo Detailed Diagnostic Testing?Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report.Primary ciliary dyskinesia: mechanisms and management.Neutrophils from Patients with Primary Ciliary Dyskinesia Display Reduced Chemotaxis to CXCR2 Ligands.Bacterial infections in patients with primary ciliary dyskinesia: Comparison with cystic fibrosis.A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index.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.Establishment of the early cilia preassembly protein complex during motile ciliogenesis.Variation in Cilia Protein Genes and Progression of Lung Disease in Cystic Fibrosis.Early Diagnosis of Primary Ciliary Dyskinesia: The Role of the Pediatrician.

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Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype

http://www.wikidata.org/entity/Q35153440

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2015 nî lūn-bûn

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2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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2015年论文

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Clinical features of childhood ...... and ultrastructural phenotype

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RCCM.201409-1672OC

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American Journal of Respiratory and Critical Care Medicine

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Clinical features of childhood ...... and ultrastructural phenotype

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Carlos Milla

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Hye-Seung Lee

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Jeffrey P Krischer

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Jessica E Pittman

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Johnny L Carson

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Maimoona A Zariwala

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Margaret Rosenfeld

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Margaret W Leigh

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Matthew L Cooper

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Michael R Knowles

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P2860

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

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

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation

Reference ranges for spirometry across all ages: a new approach

Standardisation of spirometry

Body composition and pulmonary function in cystic fibrosis

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

Forced expiratory flows and volumes in infants. Normative data and lung growth.

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