Condition: Ciliary Motility Disorders


rs879253744 in ARMC4 gene and Ciliary Motility Disorders PMID 23849778 2013 ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry.

rs145457535 in CCDC103;FAM187A gene and Ciliary Motility Disorders PMID 24357714 2013 Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 22581229 2012 CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.

PMID 27637300 2016 Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

PMID 28790179 2018 High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.

PMID 26123568 2015 A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

rs147718607 in CCDC114 gene and Ciliary Motility Disorders PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 23261303 2013 Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.

rs201780665 in CCDC39 gene and Ciliary Motility Disorders PMID 23255504 2013 Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

PMID 24498942 2014 The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.

PMID 22693295 2011 Umbilical bile staining in a patient with gall-bladder perforation.

PMID 21131972 2011 CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

PMID 27637300 2016 Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

PMID 22693285 2012 Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 2325550 1990 Multinuclear NMR investigations of probe construction materials at 4.7 T.

rs1560079213 in CCDC39;TTC14 gene and Ciliary Motility Disorders PMID 23255504 2013 Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

PMID 21131972 2011 CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs.

rs1346603171 in CCDC40 gene and Ciliary Motility Disorders PMID 23255504 2013 Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms.

PMID 22693285 2012 Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.

PMID 21131974 2011 The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation.

PMID 22499950 2012 High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 25619595 2016 CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature.

rs863224519 in CCDC40;MIR1268B gene and Ciliary Motility Disorders PMID 24498942 2014 The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.

rs863223325 in CCDC65 gene and Ciliary Motility Disorders PMID 25802884 2015 Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.

PMID 23991085 2013 CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia.

PMID 24094744 2013 Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

rs1060503388 in CCNO gene and Ciliary Motility Disorders PMID 24747639 2014 Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.

PMID 26139845 2015 Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

PMID 26777464 2016 Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.

PMID 24824133 2015 Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.

rs143740376 in CFAP298-TCP10L;CFAP298 gene and Ciliary Motility Disorders PMID 24094744 2013 Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia.

rs139519641 in DNAAF1 gene and Ciliary Motility Disorders PMID 19944405 2009 Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.

PMID 19944400 2009 Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.

rs727504815 in DNAAF2 gene and Ciliary Motility Disorders PMID 19052621 2008 Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins.

rs387907152 in DNAAF3 gene and Ciliary Motility Disorders PMID 22387996 2012 Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

rs397514561 in DNAAF5 gene and Ciliary Motility Disorders PMID 23040496 2012 Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.

PMID 24307375 2014 Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

PMID 25232951 2014 HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

rs1175443221 in DNAH11 gene and Ciliary Motility Disorders PMID 18022865 2008 Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.

PMID 20513915 2010 New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure.

PMID 22184204 2012 Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

PMID 25802884 2015 Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.

PMID 24450482 2014 Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure.

PMID 26139845 2015 Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

PMID 22102620 2012 Static respiratory cilia associated with mutations in Dnahc11/DNAH11: a mouse model of PCD.

PMID 27637300 2016 Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

rs1060501460 in DNAH5 gene and Ciliary Motility Disorders PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

PMID 26228299 2016 An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia.

PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 24905662 2015 The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey.

PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

PMID 26139845 2015 Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

PMID 24498942 2014 The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia.

PMID 23477994 2013 Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities.

PMID 22416021 2012 Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.

PMID 27637300 2016 Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients.

PMID 27618201 2016 Aminoglycoside-stimulated readthrough of premature termination codons in selected genes involved in primary ciliary dyskinesia.

PMID 26373788 2015 Ciliary function and motor protein composition of human fallopian tubes.

PMID 21270641 2011 Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.

PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 2389146 1990 Interhemispheric transfer of plasticity in the cerebral cortex.

PMID 2127064 1990 [Study of anti-ischemic action of carnitine chloride and its effects on the effectiveness of antianginal agents].

PMID 22499950 2012 High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy.

PMID 27779714 2016 Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.

PMID 24150548 2014 A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family.

rs145974361 in DNAH8 gene and Ciliary Motility Disorders PMID 24307375 2014 Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

rs376903331 in DNAH8-AS1;DNAH8 gene and Ciliary Motility Disorders PMID 24307375 2014 Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

rs200488444 in DNAI1 gene and Ciliary Motility Disorders PMID 16858015 2006 Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

PMID 21270641 2011 Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing.

PMID 11713099 2001 Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.

PMID 18434704 2008 DNAI1 mutations explain only 2% of primary ciliary dykinesia.

PMID 21143860 2010 Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).

PMID 11231901 2001 Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).

PMID 19675306 2010 Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis.

rs752924362 in DNAI2 gene and Ciliary Motility Disorders PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 25802884 2015 Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 18950741 2008 DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.

rs876657637 in DNAL1 gene and Ciliary Motility Disorders PMID 21496787 2011 Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

rs142371860 in DRC1 gene and Ciliary Motility Disorders PMID 23354437 2013 The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.

rs397515363 in FAM219A;DNAI1 gene and Ciliary Motility Disorders PMID 26918822 2016 DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia.

PMID 11231901 2001 Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).

PMID 16858015 2006 Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

PMID 18434704 2008 DNAI1 mutations explain only 2% of primary ciliary dykinesia.

PMID 10577904 1999 Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

PMID 29363216 2018 Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.

rs756430359 in LOC101930593;DNAAF3 gene and Ciliary Motility Disorders PMID 22387996 2012 Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia.

rs397515340 in MRPS18A;RSPH9 gene and Ciliary Motility Disorders PMID 22384920 2012 From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula.

PMID 23993197 2013 Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

PMID 19200523 2009 Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

rs1297857806 in RASSF1;ZMYND10 gene and Ciliary Motility Disorders PMID 23891471 2013 Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

rs62638634 in RPGR gene and Ciliary Motility Disorders PMID 10937588 2000 X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

PMID 9855162 1998 X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.

PMID 9399904 1997 Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.

rs138320978 in RSPH1 gene and Ciliary Motility Disorders PMID 26139845 2015 Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

PMID 23993197 2013 Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

PMID 24568568 2014 Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype.

PMID 24518672 2014 Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

rs118204043 in RSPH4A gene and Ciliary Motility Disorders PMID 22448264 2012 Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.

PMID 19200523 2009 Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.

PMID 23993197 2013 Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

PMID 25789548 2015 Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects.

PMID 23798057 2013 Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia.

rs1233811324 in RSPH9 gene and Ciliary Motility Disorders PMID 24307375 2014 Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface.

rs1007345781 in TTC14;CCDC39 gene and Ciliary Motility Disorders PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

rs138815960 in ZMYND10 gene and Ciliary Motility Disorders PMID 23891471 2013 Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

PMID 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.