| scholarly article | Q13442814 |
| P50 | author | Peter Nürnberg | Q2077335 |
| Thomas Burgoyne | Q42906550 | ||
| Amelia Shoemark | Q43076106 | ||
| Miriam Schmidts | Q55692656 | ||
| Richard Reinhardt | Q61060729 | ||
| Claudius Werner | Q64797211 | ||
| Heymut Omran | Q28219707 | ||
| Heike Olbrich | Q28219718 | ||
| Gudrun Nürnberg | Q28320150 | ||
| P2093 | author name string | Matthew E Hurles | |
| Alexandros Onoufriadis | |||
| Eddie M K Chung | |||
| Gabriele Köhler | |||
| Hannah M Mitchison | |||
| Johanna Raidt | |||
| Niki T Loges | |||
| Josef Schroeder | |||
| UK10K Consortium | |||
| June K Marthin | |||
| Kim G Nielsen | |||
| Nora Fanni Banki | |||
| Saeed Al Turki | |||
| P2860 | cites work | Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein | Q22008584 |
| Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. | Q22010856 | ||
| Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry | Q24292162 | ||
| A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia | Q24300196 | ||
| Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations | Q24300830 | ||
| Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia | Q24302250 | ||
| Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia | Q24306479 | ||
| Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia | Q24306694 | ||
| DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm | Q24308710 | ||
| Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities | Q24308816 | ||
| CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs | Q24312161 | ||
| The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation | Q24312873 | ||
| Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins | Q24321284 | ||
| CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms | Q24321478 | ||
| Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects | Q24322484 | ||
| Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia | Q24322630 | ||
| PedCheck: a program for identification of genotype incompatibilities in linkage analysis | Q24539016 | ||
| A map of human genome variation from population-scale sequencing | Q24617794 | ||
| Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates. | Q43073812 | ||
| Factors influencing age at diagnosis of primary ciliary dyskinesia in European children | Q53383518 | ||
| GRR: graphical representation of relationship errors | Q74428451 | ||
| Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation | Q80370540 | ||
| HaploPainter: a tool for drawing pedigrees with complex haplotypes | Q80585999 | ||
| Diagnostic value of nasal nitric oxide measured with non-velum closure techniques for children with primary ciliary dyskinesia | Q83938165 | ||
| Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia | Q84357756 | ||
| Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS) | Q24635921 | ||
| Fast and accurate short read alignment with Burrows-Wheeler transform | Q24653853 | ||
| The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data | Q27860742 | ||
| Merlin--rapid analysis of dense genetic maps using sparse gene flow trees | Q27860829 | ||
| The Sequence Alignment/Map format and SAMtools | Q27860966 | ||
| Pcdp1 is a central apparatus protein that binds Ca(2+)-calmodulin and regulates ciliary motility | Q28504586 | ||
| Mutations in Hydin impair ciliary motility in mice | Q28509898 | ||
| Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. | Q28589174 | ||
| The murine Dnali1 gene encodes a flagellar protein that interacts with the cytoplasmic dynein heavy chain 1 | Q28592224 | ||
| When cilia go bad: cilia defects and ciliopathies | Q29547198 | ||
| A framework for variation discovery and genotyping using next-generation DNA sequencing data | Q29547262 | ||
| The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia | Q29615741 | ||
| Allegro, a new computer program for multipoint linkage analysis | Q29618620 | ||
| Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. | Q30274621 | ||
| ALOHOMORA: a tool for linkage analysis using 10K SNP array data | Q30980243 | ||
| The hydrocephalus inducing gene product, Hydin, positions axonemal central pair microtubules | Q33293475 | ||
| Spag16, an axonemal central apparatus gene, encodes a male germ cell nuclear speckle protein that regulates SPAG16 mRNA expression. | Q33926954 | ||
| Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene | Q34193368 | ||
| ATS/ERS recommendations for standardized procedures for the online and offline measurement of exhaled lower respiratory nitric oxide and nasal nitric oxide, 2005. | Q34409752 | ||
| Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia | Q34539455 | ||
| A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome | Q34539684 | ||
| RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa | Q34559746 | ||
| A 360-kb interchromosomal duplication of the human HYDIN locus | Q34561288 | ||
| Genetic defects in ciliary structure and function | Q34576108 | ||
| Chlamydomonas reinhardtii hydin is a central pair protein required for flagellar motility | Q36117788 | ||
| How did the cilium evolve? | Q37369321 | ||
| All-digital image capture and whole-field analysis of ciliary beat frequency | Q39656205 | ||
| Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. | Q39924359 | ||
| The LC7 light chains of Chlamydomonas flagellar dyneins interact with components required for both motor assembly and regulation | Q40070070 | ||
| PF20 gene product contains WD repeats and localizes to the intermicrotubule bridges in Chlamydomonas flagella | Q40243385 | ||
| P433 | issue | 4 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | dyskinesia | Q629444 |
| primary ciliary dyskinesia | Q1690779 | ||
| P304 | page(s) | 672-684 | |
| P577 | publication date | 2012-09-27 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry | |
| P478 | volume | 91 |
| Q36089768 | 1q21.1 microduplication in a patient with mental impairment and congenital heart defect |
| Q35959700 | A human laterality disorder associated with a homozygous WDR16 deletion |
| Q88045141 | A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome |
| Q26750292 | A primer on the mouse basal body |
| Q36676827 | A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma |
| Q38960402 | Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia |
| Q34971099 | Aerobic fitness in children and young adults with primary ciliary dyskinesia |
| Q40675859 | An effective combination of sanger and next generation sequencing in diagnostics of primary ciliary dyskinesia |
| Q39117185 | An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate |
| Q47955246 | Application of laboratory and digital techniques for visual enhancement during the ultrastructural assessment of cilia |
| Q47770189 | Applications of emerging transmission electron microscopy technology in PCD research and diagnosis |
| Q60961805 | Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study |
| Q64094557 | Basalin is an evolutionarily unconstrained protein revealed via a conserved role in flagellum basal plate function |
| Q24303570 | CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation |
| Q51664414 | CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature. |
| Q27308979 | CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia |
| Q35116940 | Characterizing the ultrastructure of primary ciliary dyskinesia transposition defect using electron tomography. |
| Q39013671 | Cilia and Mucociliary Clearance |
| Q50983465 | Ciliary function and motor protein composition of human fallopian tubes. |
| Q35091627 | Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients |
| Q30558493 | Ciliogenesis and cerebrospinal fluid flow in the developing Xenopus brain are regulated by foxj1 |
| Q36975070 | Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in Old English Sheepdogs. |
| Q50315572 | Clinical phenotype and current diagnostic criteria for primary ciliary dyskinesia |
| Q35855793 | Clinical value of measurement of pulmonary radioaerosol mucociliary clearance in the work up of primary ciliary dyskinesia. |
| Q24339447 | Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. |
| Q27320098 | Culture of primary ciliary dyskinesia epithelial cells at air-liquid interface can alter ciliary phenotype but remains a robust and informative diagnostic aid |
| Q30797341 | DNAH11 Localization in the Proximal Region of Respiratory Cilia Defines Distinct Outer Dynein Arm Complexes |
| Q24310331 | DYX1C1 is required for axonemal dynein assembly and ciliary motility |
| Q26999374 | Diagnosis and management of primary ciliary dyskinesia |
| Q34991358 | Diagnosis and management of primary ciliary dyskinesia. |
| Q89112744 | Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline |
| Q28082500 | Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review |
| Q49834058 | Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients |
| Q38796206 | European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia |
| Q47178574 | Evolutionary Proteomics Uncovers Ancient Associations of Cilia with Signaling Pathways |
| Q36267724 | Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels |
| Q38175288 | Exome sequencing greatly expedites the progressive research of Mendelian diseases |
| Q28709034 | Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement |
| Q41879201 | Flagellar central pair assembly in Chlamydomonas reinhardtii. |
| Q47661228 | Formation and function of sperm tail structures in association with sperm motility defects |
| Q38181444 | Gene mutations in primary ciliary dyskinesia related to otitis media |
| Q35667275 | Genetic Testing in the Diagnosis of Primary Ciliary Dyskinesia: State-of-the-Art and Future Perspectives |
| Q38563680 | Genetic basis of human left-right asymmetry disorders |
| Q26748534 | Genetic factors contributing to human primary ciliary dyskinesia and male infertility |
| Q26782119 | Genetics and biology of primary ciliary dyskinesia |
| Q52330584 | Genetics of male infertility. |
| Q24304187 | HEATR2 plays a conserved role in assembly of the ciliary motile apparatus |
| Q90656704 | HY-DIN' in the Cilia: Discovery of Central Pair-related Mutations in Primary Ciliary Dyskinesia |
| Q34600320 | Hand-held tidal breathing nasal nitric oxide measurement--a promising targeted case-finding tool for the diagnosis of primary ciliary dyskinesia. |
| Q28306581 | Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects |
| Q40101539 | High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations |
| Q90858709 | Identification of genetic variants in CFAP221 as a cause of primary ciliary dyskinesia |
| Q37639900 | Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects |
| Q41921519 | Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability |
| Q27333763 | LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects |
| Q34347596 | Left-right asymmetry: cilia stir up new surprises in the node |
| Q28116796 | Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex |
| Q24321486 | Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects |
| Q26770927 | Mammalian axoneme central pair complex proteins: Broader roles revealed by gene knockout phenotypes |
| Q24298949 | Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations |
| Q90481742 | Motile Ciliary Disorders in Chronic Airway Inflammatory Diseases: Critical Target for Interventions |
| Q41596398 | Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy |
| Q99564767 | Motile ciliopathies |
| Q40198800 | Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect |
| Q37083413 | Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa |
| Q63681389 | Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms |
| Q42470274 | Mutations in CCDC11, which encodes a coiled-coil containing ciliary protein, causes situs inversus due to dysmotility of monocilia in the left-right organizer. |
| Q24306561 | Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms |
| Q24315743 | Mutations in DNAH1, which encodes an inner arm heavy chain dynein, lead to male infertility from multiple morphological abnormalities of the sperm flagella |
| Q28115323 | Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility |
| Q40696787 | Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization. |
| Q37698245 | Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype |
| Q24312391 | Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia |
| Q29144881 | Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy |
| Q98772427 | Nasal nitric oxide measurement for primary ciliary dyskinesia diagnosis: The impact of underlying genetic defects on diagnostic accuracy |
| Q64117656 | One-year evolution and variability in multiple-breath washout indices in children and young adults with primary ciliary dyskinesia |
| Q37624432 | Picking up speed: advances in the genetics of primary ciliary dyskinesia |
| Q90403178 | Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia |
| Q33780616 | Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies |
| Q36968964 | Primary ciliary dyskinesia and associated sensory ciliopathies |
| Q92180401 | Primary ciliary dyskinesia in Japan: systematic review and meta-analysis |
| Q90779640 | Primary ciliary dyskinesia in the genomics age |
| Q27333212 | Primary ciliary dyskinesia. |
| Q37304381 | Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease |
| Q30577804 | Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal ultrastructure |
| Q42364406 | Primary ciliary dyskinesia: mechanisms and management |
| Q38066984 | Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy |
| Q52598766 | Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: part 1. |
| Q92049546 | Proteome of the central apparatus of a ciliary axoneme |
| Q36062870 | RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes |
| Q37701161 | Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions |
| Q91966626 | Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia |
| Q63246374 | Recent Developments in mRNA-Based Protein Supplementation Therapy to Target Lung Diseases |
| Q34852544 | Recent advances in primary ciliary dyskinesia genetics. |
| Q92750968 | Reply to Shoemark et al. and to Shapiro et al |
| Q30542132 | Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility |
| Q38107881 | Riding the wave of ependymal cilia: genetic susceptibility to hydrocephalus in primary ciliary dyskinesia |
| Q50024900 | Should transmission electron microscopy and ultrastructural cilia evaluation remain part of the diagnostic work-up for primary ciliary dyskinesia? |
| Q47171971 | Sperm dysfunction and ciliopathy. |
| Q28512056 | Sperm-associated antigen-17 gene is essential for motile cilia function and neonatal survival |
| Q24306741 | Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia |
| Q37153036 | TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization |
| Q30580167 | 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. |
| Q31031878 | The "omics" of human male infertility: integrating big data in a systems biology approach |
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| Q37692482 | The birth of a human-specific neural gene by incomplete duplication and gene fusion |
| Q38806129 | The evolving spectrum of ciliopathies and respiratory disease |
| Q48580312 | The need to improve patient care through discriminate use of intracytoplasmic sperm injection (ICSI) and improved understanding of spermatozoa, oocyte and embryo biology |
| Q33640482 | The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia |
| Q27324715 | Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. |
| Q35210996 | Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder |
| Q47771928 | Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure. |
| Q35926452 | Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. |
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