Condition: CILIARY DYSKINESIA, PRIMARY, 3


rs1060501460 in DNAH5 gene and CILIARY DYSKINESIA, PRIMARY, 3 PMID 11912187 2002 Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.

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

PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

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

PMID 24498942 2014 The role of molecular genetic analysis in the 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 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 23891469 2013 ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 15750039 2005 Mislocalization of DNAH5 and DNAH9 in respiratory cells from patients with primary ciliary dyskinesia.

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

PMID 11062149 2000 Homozygosity mapping of a gene locus for primary ciliary dyskinesia on chromosome 5p and identification of the heavy dynein chain DNAH5 as a candidate gene.

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

PMID 19630565 2009 Genetics, medicine, and the Plain people.

PMID 25066065 2014 Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.