Primary ciliary dyskinesia, an orphan disease. - Wikidata - thesis-toulmin - TriplyDB

Primary ciliary dyskinesia, an orphan disease.

Primary ciliary dyskinesia, an orphan disease.

http://www.wikidata.org/entity/Q38025037

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A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia Clinical spectrum of primary ciliary dyskinesia in childhood Orphan diseases of the nose and paranasal sinuses: Pathogenesis - clinic - therapy Diagnosis of primary ciliary dyskinesia Pulmonary epithelial barrier function: some new players and mechanisms Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review Systematic discovery of novel ciliary genes through functional genomics in the zebrafish.Endoscopic sinus surgery for treatment of kartagener syndrome: a case report.Non-cystic fibrosis bronchiectasis.Reduced nasal nitric oxide production in cystic fibrosis patients with elevated systemic inflammation markers.Variation in DNAH1 may contribute to primary ciliary dyskinesia Mutation analysis in patients with total sperm immotility Successful treatment of chronic lower respiratory tract infection by macrolide administration in a patient with intralobar pulmonary sequestration and primary ciliary dyskinesia.Diagnostic accuracy of nasal nitric oxide for establishing diagnosis of primary ciliary dyskinesia: a meta-analysis Primary cilia in neurodevelopmental disorders.Primary ciliary dyskinesia: overlooked and undertreated in children.Presentation of primary ciliary dyskinesia in children: 30 years' experience.A chest physician's guide to mechanisms of sinonasal disease.Left middle lobectomy for bronchiectasis in a patient with Kartagener syndrome: a case report.Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis.Chibby functions to preserve normal ciliary morphology through the regulation of intraflagellar transport in airway ciliated cells.An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.Lung structure-function correlation in patients with primary ciliary dyskinesia.Neutrophils from Patients with Primary Ciliary Dyskinesia Display Reduced Chemotaxis to CXCR2 Ligands.Primary Ciliary Dyskinesia: An Update on New Diagnostic Modalities and Review of the Literature.Comparison of conventional pulmonary rehabilitation and high-frequency chest wall oscillation in primary ciliary dyskinesia.Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure.Monocytes from patients with Primary Ciliary Dyskinesia show enhanced inflammatory properties and produce higher levels of pro-inflammatory cytokines.Chemoattractants and cytokines in primary ciliary dyskinesia and cystic fibrosis: key players in chronic respiratory diseases.Clinical analysis of patients with primary ciliary dyskinesia in mainland China.Primary ciliary dyskinesia complicated with diffuse panbronchiolitis: a case report and literature review.

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P2860

Primary ciliary dyskinesia, an orphan disease.

http://www.wikidata.org/entity/Q38025037

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Primary ciliary dyskinesia, an orphan disease.

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Primary ciliary dyskinesia, an orphan disease.

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Primary ciliary dyskinesia, an orphan disease.

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P356

S00431-012-1785-6

P1433

European Journal of Pediatrics

P1476

Primary ciliary dyskinesia, an orphan disease.

@en

P2093

Kris De Boeck

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

Marijke Proesmans

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

Mark Jorissen

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

Mieke Boon

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

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

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 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

P2888

s00431-012-1785-6

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151-162

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scholarly article

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10.1007/S00431-012-1785-6

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2

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172

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P577

2012-07-10T00:00:00Z

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229013952

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1011843654

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22777640

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P921

Orphan diseases