(Q38066984)

English

Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy

scientific article published on December 2012

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scholarly article

1 reference

Europe PubMed Central

28 August 2017

1 reference

Europe PubMed Central

Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy (English)

1 reference

Europe PubMed Central

28 August 2017

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

primary ciliary dyskinesia

1 reference

based on heuristic

inferred from title

2

object named as

Claire Hogg

1 reference

Europe PubMed Central

28 August 2017

author name string

Andrew Bush

1

1 reference

Europe PubMed Central

28 August 2017

publication date

1 December 2012

1 reference

Europe PubMed Central

28 August 2017

Expert Review of Respiratory Medicine

1 reference

Europe PubMed Central

28 August 2017

6

1 reference

Europe PubMed Central

28 August 2017

6

1 reference

Europe PubMed Central

28 August 2017

663-682

1 reference

Europe PubMed Central

28 August 2017

A Human Syndrome Caused by Immotile Cilia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Factors influencing age at diagnosis of primary ciliary dyskinesia in European children

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Introduction: primary ciliary dyskinesia and overlapping syndromes.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Cilia and models for studying structure and function

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

The emerging genetics of primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

The challenges of diagnosing primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Update of respiratory tract disease in children with primary ciliary dyskinesia.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Spectrum of clinical diseases caused by disorders of primary cilia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Ciliopathies: the central role of cilia in a spectrum of pediatric disorders

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Cystic fibrosis, primary ciliary dyskinesia and non-cystic fibrosis bronchiectasis: update 2008-11.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Two-dimensional analysis of flagellar proteins from wild-type and paralyzed mutants of Chlamydomonas reinhardtii

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Genetic and biochemical dissection of the eucaryotic flagellum

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Centriole maturation and transformation to basal body

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Analysis of ciliary beat pattern and beat frequency using digital high speed imaging: comparison with the photomultiplier and photodiode methods

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

A motility in the eukaryotic flagellum unrelated to flagellar beating

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

The roles of cilia in developmental disorders and disease

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Nasal ciliary beat frequency and beat pattern in retinal ciliopathies

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Overview of structure and function of mammalian cilia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Fertility in men with primary ciliary dyskinesia presenting with respiratory infection

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Motile cilia of human airway epithelia are chemosensory

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Sensory reception is an attribute of both primary cilia and motile cilia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Assembly of primary cilia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

The primary cilium as a cellular signaling center: lessons from disease

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Disruption of a ciliary B9 protein complex causes Meckel syndrome

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

1001 model organisms to study cilia and flagella

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Pcdp1 is a central apparatus protein that binds Ca(2+)-calmodulin and regulates ciliary motility

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Centrin depletion causes cyst formation and other ciliopathy-related phenotypes in zebrafish

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Primary ciliary dyskinesia and hydrocephalus with aqueductal stenosis.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Target-of-rapamycin complex 1 (Torc1) signaling modulates cilia size and function through protein synthesis regulation

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

A chemical screen identifies class a g-protein coupled receptors as regulators of cilia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Hydrocephalus, situs inversus, chronic sinusitis, and male infertility in DNA polymerase lambda-deficient mice: possible implication for the pathogenesis of immotile cilia syndrome

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Coordinated ciliary beating requires Odf2-mediated polarization of basal bodies via basal feet

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Transcriptional profiling of C. elegans DAF-19 uncovers a ciliary base-associated protein and a CDK/CCRK/LF2p-related kinase required for intraflagellar transport

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Ciliary and flagellar structure and function--their regulations by posttranslational modifications of axonemal tubulin

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Proteomic analysis of mammalian primary cilia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Structural studies of ciliary components

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Functional genomic screen for modulators of ciliogenesis and cilium length

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Variant cystic fibrosis phenotypes in the absence of CFTR mutations.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

LRRC50, a conserved ciliary protein implicated in polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Altered surfactant homeostasis and recurrent respiratory failure secondary to TTF-1 nuclear targeting defect.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

RFX3 governs growth and beating efficiency of motile cilia in mouse and controls the expression of genes involved in human ciliopathies

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Tubulin polyglutamylation is essential for airway ciliary function through the regulation of beating asymmetry

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Evidence of Oligogenic Inheritance in Nephronophthisis

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Mutations in the SUP-PF-1 locus of Chlamydomonas reinhardtii identify a regulatory domain in the beta-dynein heavy chain

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Extragenic suppressors of paralyzed flagellar mutations in Chlamydomonas reinhardtii identify loci that alter the inner dynein arms

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

The dynein regulatory complex is the nexin link and a major regulatory node in cilia and flagella

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

A CFTR potentiator in patients with cystic fibrosis and the G551D mutation

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for the F508del-CFTR mutation.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Primary ciliary dyskinesia: current state of the art.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Clinical and immunohistochemical evidence for an X linked retinitis pigmentosa syndrome with recurrent infections and hearing loss in association with an RPGR mutation

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Diagnosing primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Nitric oxide in chronic airway inflammation in children: diagnostic use and pathophysiological significance

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Nasal nitric oxide levels in healthy pre-school children.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Reduced upper airway nitric oxide in cystic fibrosis

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Mucociliary transport using 99mTc-albumin colloid: a reliable screening test for primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Cilia motility and structure in primary and secondary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Diagnostic testing of patients suspected of primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Computer-assisted analysis helps detect inner dynein arm abnormalities.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

The secondary nature of ciliary (dis)orientation in secondary and primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Axonemal localization of the dynein component DNAH5 is not altered in secondary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Immunofluorescence staining of ciliated respiratory epithelial cells

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Cryoelectron tomography of radial spokes in cilia and flagella.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Cryo-electron tomography reveals conserved features of doublet microtubules in flagella

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Comparative structural analysis of eukaryotic flagella and cilia from Chlamydomonas, Tetrahymena, and sea urchins.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Respiratory medicines for children: current evidence, unlicensed use and research priorities

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Ventilation inhomogeneity in children with primary ciliary dyskinesia.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Treatment of otitis media with effusion in children with primary ciliary dyskinesia.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Hearing outcomes in children with primary ciliary dyskinesia--a longitudinal study.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Pregnancy after ICSI with ejaculated immotile spermatozoa from a patient with immotile cilia syndrome: a case report and review of the literature

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Normal live birth after testicular sperm extraction and intracytoplasmic sperm injection in variant primary ciliary dyskinesia with completely immotile sperm and structurally abnormal sperm tails.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Ectopic pregnancy in primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Longitudinal study of lung function in a cohort of primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Primary ciliary dyskinesia: diagnostic and phenotypic features.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Early lung disease in young children with primary ciliary dyskinesia.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Liver and kidney disease in ciliopathies

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Hepatorenal findings in obligate heterozygotes for autosomal recessive polycystic kidney disease

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Autosomal dominant polycystic kidney disease is associated with an increased prevalence of radiographic bronchiectasis

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Ciliopathies: an expanding disease spectrum

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Novel RPGR-ORF15 mutations in X-linked retinitis pigmentosa patients.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Interaction and Localization of the Retinitis Pigmentosa Protein RP2 and NSF in Retinal Photoreceptor Cells

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

When cilia go bad: cilia defects and ciliopathies

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Oral-facial-digital syndrome type 1 is another dominant polycystic kidney disease: clinical, radiological and histopathological features of a new kindred.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Clinical variability of asphyxiating thoracic dystrophy (Jeune) syndrome: Evaluation and classification of 13 patients

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Lateral thoracic expansion for Jeune syndrome: evidence of rib healing and new bone formation.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Hydrocephalus in asphyxiating thoracic dystrophy

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Early cirrhosis in survivors with Jeune thoracic dystrophy

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Ellis-van creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: separate entities or disease spectrum?

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Ciliary dysfunction and obesity

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Proteomic analysis of a eukaryotic cilium

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Mutations in Hydin impair ciliary motility in mice

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

The hydrocephalus inducing gene product, Hydin, positions axonemal central pair microtubules

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Evaluation of pulmonary disease using static lung volumes in primary ciliary dyskinesia

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Management of primary ciliary dyskinesia in European children: recommendations and clinical practice

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Determination of left–right patterning of the mouse embryo by artificial nodal flow

1 reference

https://api.crossref.org/works/10.1586%2FERS.12.60

21 January 2018

Identifiers

10.1586/ERS.12.60

1 reference

Europe PubMed Central

28 August 2017

1 reference

Europe PubMed Central

28 August 2017

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