| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1016615109 |
| P356 | DOI | 10.1007/S00439-006-0210-5 |
| P698 | PubMed publication ID | 16783569 |
| P5875 | ResearchGate publication ID | 6999523 |
| P50 | author | Anna Latos-Bieleńska | Q11686256 |
| Bartlomiej Budny | Q55691493 | ||
| Hans-Hilger Ropers | Q20607814 | ||
| Heymut Omran | Q28219707 | ||
| Wei Chen | Q30504047 | ||
| P2093 | author name string | Manfred Fliegauf | |
| Steffen Lenzner | |||
| Andreas Tzschach | |||
| Martine Raynaud | |||
| Sarah A Shoichet | |||
| Lars R Jensen | |||
| Marzena Wisniewska | |||
| Magda Badura | |||
| P2860 | cites work | Molecular motors in neuronal development, intracellular transport and diseases | Q35909233 |
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| Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene | Q28590359 | ||
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| Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse | Q28593460 | ||
| Easy calculations of lod scores and genetic risks on small computers | Q29616143 | ||
| Decoding cilia function: defining specialized genes required for compartmentalized cilia biogenesis | Q29618534 | ||
| Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review | Q32108904 | ||
| Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation | Q34206865 | ||
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| Cochlear development: hair cells don their wigs and get wired | Q35891965 | ||
| P433 | issue | 2 | |
| P304 | page(s) | 171-178 | |
| P577 | publication date | 2006-06-17 | |
| P1433 | published in | Human Genetics | Q5937167 |
| P1476 | title | A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome | |
| P478 | volume | 120 |
| Q37491993 | A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report |
| Q26858999 | A developmental and genetic classification for malformations of cortical development: update 2012 |
| Q53553888 | A germline MTOR mutation in Aboriginal Australian siblings with intellectual disability, dysmorphism, macrocephaly, and small thoraces. |
| Q52147061 | A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. |
| Q92267109 | Assessment of genetic variant burden in epilepsy-associated brain lesions |
| Q38014318 | Basic biology and mechanisms of neural ciliogenesis and the B9 family |
| Q33960375 | CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study |
| Q24299464 | Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy |
| Q34541509 | Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1. |
| Q27312495 | Ciliary beating recovery in deficient human airway epithelial cells after lentivirus ex vivo gene therapy |
| Q35091627 | Ciliary genes are down-regulated in bronchial tissue of primary ciliary dyskinesia patients |
| Q38994215 | Ciliopathies |
| Q35764547 | Ciliopathies: the central role of cilia in a spectrum of pediatric disorders |
| Q34609964 | Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome |
| Q50315572 | Clinical phenotype and current diagnostic criteria for primary ciliary dyskinesia |
| Q58607576 | Clinical spectrum of male patients with OFD1 mutations |
| Q48150096 | Comment on "Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome". |
| Q30485917 | Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene |
| Q24310331 | DYX1C1 is required for axonemal dynein assembly and ciliary motility |
| Q36122430 | Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23) |
| Q34991358 | Diagnosis and management of primary ciliary dyskinesia. |
| Q64041786 | Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in |
| Q28082500 | Diagnosis, monitoring, and treatment of primary ciliary dyskinesia: PCD foundation consensus recommendations based on state of the art review |
| Q38796206 | European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia |
| Q40033427 | Exome sequencing in a family with an X-linked lethal malformation syndrome: clinical consequences of hemizygous truncating OFD1 mutations in male patients |
| Q36035743 | Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations |
| Q38181444 | Gene mutations in primary ciliary dyskinesia related to otitis media |
| Q48661877 | Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia |
| Q24321284 | Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins |
| Q39012190 | Motile and non-motile cilia in human pathology: from function to phenotypes |
| Q41596398 | Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy |
| Q99564767 | Motile ciliopathies |
| Q28586510 | Mutation of murine adenylate kinase 7 underlies a primary ciliary dyskinesia phenotype. |
| Q40198800 | Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect |
| Q39849276 | Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients |
| Q63681389 | Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms |
| Q28975778 | Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects |
| Q24314576 | Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia |
| Q35842529 | Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients |
| Q24308816 | Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities |
| Q38030482 | Non-syndromic retinal ciliopathies: translating gene discovery into therapy |
| Q51852497 | Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome. |
| Q33872321 | Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability |
| Q24320320 | OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin |
| Q42513709 | OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment |
| Q28577786 | OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models |
| Q64039678 | Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project |
| Q52100131 | Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum. |
| Q90403178 | Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia |
| Q24300830 | Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations |
| Q90779640 | Primary ciliary dyskinesia in the genomics age |
| Q38025037 | Primary ciliary dyskinesia, an orphan disease |
| Q42364406 | Primary ciliary dyskinesia: mechanisms and management |
| Q44640058 | RPGR mutations might cause reduced orientation of respiratory cilia |
| Q91966626 | Rare Human Diseases: Model Organisms in Deciphering the Molecular Basis of Primary Ciliary Dyskinesia |
| Q34852544 | Recent advances in primary ciliary dyskinesia genetics. |
| Q36358455 | Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry |
| Q28743873 | Regional selection acting on the OFD1 gene family |
| Q30542132 | Reptin/Ruvbl2 is a Lrrc6/Seahorse interactor essential for cilia motility |
| Q53577198 | Review of X-linked syndromes with arthrogryposis or early contractures-aid to diagnosis and pathway identification. |
| Q33691107 | Role of primary cilia in brain development and cancer |
| Q34623852 | Simpson-Golabi-Behmel syndrome types I and II. |
| Q47171971 | Sperm dysfunction and ciliopathy. |
| Q58327623 | The Bardet–Biedl and orofacial digital type 1 ciliopathies |
| Q38806129 | The evolving spectrum of ciliopathies and respiratory disease |
| Q92361987 | The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia |
| Q35210996 | Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder |
| Q26747724 | Update on oral-facial-digital syndromes (OFDS) |
| 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. |
| Q29547198 | When cilia go bad: cilia defects and ciliopathies |
| Q54030847 | Whole exome sequencing and array-based molecular karyotyping as aids to prenatal diagnosis in fetuses with suspected Simpson-Golabi-Behmel syndrome. |
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