References

Unresolved reference

2007 · External reference

Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome

10.1097/gim.0b013e3181a53562 · 2009 · External reference

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

10.1183/09031936.00176608 · 2009 · External reference

Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: a multicenter experience

10.1002/ppul.21402 · 2011 · External reference

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

10.1136/jclinpath-2011-200415 · 2012 · External reference

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

10.1073/pnas.0611405104 · 2007 · External reference

Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia

10.1016/j.ajhg.2012.11.003 · 2013 · External reference

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

10.1016/j.ajhg.2008.10.001 · 2008 · External reference

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

10.1016/j.ajhg.2011.03.018 · 2011 · External reference

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

10.1038/ng817 · 2002 · External reference

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

10.1016/j.ajhg.2012.11.002 · 2013 · External reference

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

10.1086/302683 · 1999 · External reference

ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry

10.1016/j.ajhg.2013.06.009 · 2013 · External reference

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

10.1016/j.ajhg.2009.11.008 · 2009 · External reference

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

10.1016/j.ajhg.2012.08.022 · 2012 · External reference

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

10.1016/j.ajhg.2012.10.003 · 2012 · External reference

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

10.1016/j.ajhg.2009.10.018 · 2009 · External reference

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

10.1038/ng.1106 · 2012 · External reference

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

10.1038/nature07471 · 2008 · External reference

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

10.1038/ng.2277 · 2012 · External reference

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6

10.1016/j.ajhg.2013.06.007 · 2013 · External reference

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia

10.1016/j.ajhg.2013.07.009 · 2013 · External reference

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

10.1016/j.ajhg.2009.01.011 · 2009 · External reference

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

10.1016/j.ajhg.2013.07.013 · 2013 · External reference

Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms

10.1002/humu.22261 · 2013 · External reference

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

10.1038/ng.727 · 2011 · External reference

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

10.1038/ng.726 · 2011 · External reference

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

10.1136/thoraxjnl-2011-200301 · 2012 · External reference

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

10.1016/j.ajhg.2012.08.016 · 2012 · External reference

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

10.1038/ng.2533 · 2013 · External reference

CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia

10.1371/journal.pone.0072299 · 2013 · External reference

ATS/ERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005

10.1164/rccm.200406-710st · 2005 · External reference

Nasal NO: normal values in children age 6 through to 17 years

10.1183/09031936.05.00015205 · 2005 · External reference

Primary ciliary dyskinesia: diagnostic and phenotypic features

10.1164/rccm.200303-365oc · 2004 · External reference

Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: practical issues in children

10.1016/j.rmed.2007.11.013 · 2008 · External reference

A method and server for predicting damaging missense mutations

10.1038/nmeth0410-248 · 2010 · External reference

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

10.1038/nprot.2009.86 · 2009 · External reference

MutationTaster evaluates disease-causing potential of sequence alterations

10.1038/nmeth0810-575 · 2010 · External reference

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

10.1164/rccm.200601-084oc · 2006 · External reference

DNAI1 mutations explain only 2% of primary ciliary dykinesia

10.1159/000128567 · 2008 · External reference

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

10.1136/jmg.2008.061176 · 2009 · External reference

Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia

10.1002/ppul.22520 · 2012 · External reference

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

10.1002/humu.22001 · 2012 · External reference

Inner dynein arm defects causing primary ciliary dyskinesia: repeat testing required

10.1183/09031936.00108410 · 2011 · External reference