Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure - Wikidata - wikimedia - TriplyDB

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

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

http://www.wikidata.org/entity/Q24300203

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Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia DYX1C1 is required for axonemal dynein assembly and ciliary motility ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6 Genetics and biology of primary ciliary dyskinesia CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia Accuracy of diagnostic testing in primary ciliary dyskinesia LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography.Collecting clinical data in primary ciliary dyskinesia- challenges and opportunities.The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia The determination factors of left-right asymmetry disorders- a short review.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 Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder.Major protein alterations in spermatozoa from infertile men with unilateral varicocele.Mutation analysis in patients with total sperm immotility Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysis Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy Genetics, diagnosis, and future treatment strategies for primary ciliary dyskinesia.Primary ciliary dyskinesia and associated sensory ciliopathies Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.Picking up speed: advances in the genetics of primary ciliary dyskinesia.Standardizing nasal nitric oxide measurement as a test for primary ciliary dyskinesia.Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.Primary ciliary dyskinesia, an orphan disease.Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.Gene mutations in primary ciliary dyskinesia related to otitis media.Primary ciliary dyskinesia: overlooked and undertreated in children.

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

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description

2012 nî lūn-bûn

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2012 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2012 թվականի մայիսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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Mutations of DNAH11 in patient ...... normal ciliary ultrastructure

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Mutations of DNAH11 in patient ...... normal ciliary ultrastructure

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Mutations of DNAH11 in patient ...... normal ciliary ultrastructure

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Mutations of DNAH11 in patient ...... normal ciliary ultrastructure

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Mutations of DNAH11 in patient ...... normal ciliary ultrastructure

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Mutations of DNAH11 in patient ...... normal ciliary ultrastructure

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Mutations of DNAH11 in patient ...... normal ciliary ultrastructure

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Mutations of DNAH11 in patient ...... normal ciliary ultrastructure

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Mutations of DNAH11 in patient ...... normal ciliary ultrastructure

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Mutations of DNAH11 in patient ...... normal ciliary ultrastructure

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Mutations of DNAH11 in patient ...... normal ciliary ultrastructure

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Mutations of DNAH11 in patient ...... normal ciliary ultrastructure

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Adriana Lori

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Anita Becker-Heck

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Johnny L Carson

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Kimberlie A Burns

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Maimoona A Zariwala

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P2860

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia

Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation

A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia

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

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

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

DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm

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3990639

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10.1136/THORAXJNL-2011-200301

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5

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67

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Miriam Schmidts

Claudius Werner

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2012-05-01T00:00:00Z

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51902484

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22184204

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determination of left/right symmetry

Dynein axonemal heavy chain 11

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3739700

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