| scholarly article | Q13442814 |
| P50 | author | Christine R Isabella | Q58002604 |
| Rachel H Giles | Q63372740 | ||
| Edgar A. Otto | Q30348357 | ||
| Gijs van Haaften | Q41691508 | ||
| Hendrik Gremmels | Q42175295 | ||
| P2093 | author name string | Friedhelm Hildebrandt | |
| Dan Doherty | |||
| Colin A Johnson | |||
| Gisela G Slaats | |||
| Nine V Knoers | |||
| Hester Y Kroes | |||
| Ian A Glass | |||
| Ian G Phelps | |||
| Melissa A Parisi | |||
| Julie Vogt | |||
| Nancy J Mendelsohn | |||
| Glen R Monroe | |||
| Jonathan Adkins | |||
| Sarah Bowdin | |||
| Lisa Worgan | |||
| David Neubauer | |||
| Sotiria D Mastroyianni | |||
| Jennifer C Dempsey | |||
| Karen J Duran | |||
| Natalya Karp | |||
| Dana M Knutzen | |||
| Sairam A Kumar | |||
| P2860 | cites work | Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome | Q21710711 |
| Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways | Q24302034 | ||
| Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome | Q24308692 | ||
| The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation | Q24337819 | ||
| Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans | Q24338649 | ||
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes | Q24625476 | ||
| CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation | Q24650658 | ||
| Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies | Q24651557 | ||
| The nonmotile ciliopathies | Q27967648 | ||
| The ciliary membrane | Q27967675 | ||
| A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition | Q28000057 | ||
| A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain | Q28000085 | ||
| ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting | Q28000117 | ||
| Joubert syndrome (and related disorders) (OMIM 213300). | Q48232417 | ||
| Neurobehavioral development in Joubert syndrome | Q48403714 | ||
| Oromotor and communication findings in joubert syndrome: further evidence of multisystem apraxia | Q48603625 | ||
| Joubert syndrome: brain and spinal cord malformations in genotyped cases and implications for neurodevelopmental functions of primary cilia | Q48661877 | ||
| Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures | Q48715066 | ||
| Encephalocele, polycystic kidneys, and polydactyly as an autosomal recessive trait simulating certain other disorders: the Meckel syndrome | Q48822663 | ||
| Joubert syndrome and related disorders: spectrum of neuroimaging findings in 75 patients | Q49159669 | ||
| Modulation of Ciliary Phosphoinositide Content Regulates Trafficking and Sonic Hedgehog Signaling Output. | Q52151849 | ||
| Dandy-Walker anomaly in Meckel-Gruber syndrome | Q73389976 | ||
| Crucial roles of Robo proteins in midline crossing of cerebellofugal axons and lack of their up-regulation after midline crossing | Q28508232 | ||
| Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations | Q29030218 | ||
| CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation | Q34029300 | ||
| Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies | Q34054602 | ||
| Multiplexed array-based and in-solution genomic enrichment for flexible and cost-effective targeted next-generation sequencing | Q34066566 | ||
| Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation | Q34240302 | ||
| Joubert syndrome: a review | Q34241001 | ||
| Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans | Q34393576 | ||
| Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy | Q34393598 | ||
| Follow-up in children with Joubert syndrome | Q34440288 | ||
| MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome | Q34485076 | ||
| Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. | Q34611131 | ||
| Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online | Q34614062 | ||
| Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome | Q34619528 | ||
| A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome | Q34700895 | ||
| Is lithium a real teratogen? What can we conclude from the prospective versus retrospective studies? A review. | Q34872084 | ||
| A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies | Q35063169 | ||
| Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome | Q35078642 | ||
| Scoring a backstage pass: mechanisms of ciliogenesis and ciliary access. | Q36027360 | ||
| Joubert syndrome: genotyping a Northern European patient cohort | Q36475039 | ||
| Meckel-Gruber syndrome: pathologic manifestations, minimal diagnostic criteria, and differential diagnosis | Q36551852 | ||
| Joubert syndrome: congenital cerebellar ataxia with the molar tooth | Q37257283 | ||
| A developmental and genetic classification for midbrain-hindbrain malformations | Q37472322 | ||
| A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium | Q37624332 | ||
| Unraveling the genetics of Joubert and Meckel-Gruber syndromes | Q38366595 | ||
| Cognition, behavior, and development in Joubert syndrome | Q40797371 | ||
| Functional aspects of primary cilia in signaling, cell cycle and tumorigenesis | Q40963789 | ||
| Phosphoinositides Regulate Ciliary Protein Trafficking to Modulate Hedgehog Signaling | Q42287159 | ||
| Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome | Q42752301 | ||
| Joubert syndrome: long-term follow-up | Q45097334 | ||
| Human pluripotent stem cell and neural differentiation | Q46271456 | ||
| 3D spheroid model of mIMCD3 cells for studying ciliopathies and renal epithelial disorders | Q46720230 | ||
| Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing | Q46983358 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 62-72 | |
| P577 | publication date | 2015-10-21 | |
| P1433 | published in | Journal of Medical Genetics | Q14640281 |
| P1476 | title | MKS1 regulates ciliary INPP5E levels in Joubert syndrome | |
| P478 | volume | 53 |
| Q92617626 | A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling |
| Q37381267 | Drosophila sensory cilia lacking MKS proteins exhibit striking defects in development but only subtle defects in adults |
| Q89595747 | Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes |
| Q37576577 | INPP5E regulates phosphoinositide-dependent cilia transition zone function. |
| Q37622528 | KIF13B establishes a CAV1-enriched microdomain at the ciliary transition zone to promote Sonic hedgehog signalling |
| Q92146694 | LF4/MOK and a CDK-related kinase regulate the number and length of cilia in Tetrahymena |
| Q47251765 | Loss-of-function of the ciliopathy protein Cc2d2a disorganizes the vesicle fusion machinery at the periciliary membrane and indirectly affects Rab8-trafficking in zebrafish photoreceptors. |
| Q38669720 | Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. |
| Q47228439 | Primary cilia proteins: ciliary and extraciliary sites and functions. |
| Q54974024 | Relationship Between INPP5E Gene Expression and Embryonic Neural Development in a Mouse Model of Neural Tube Defect. |
| Q60919495 | Review of Ocular Manifestations of Joubert Syndrome |
| Q89831291 | Signaling in the primary cilium through the lens of the Hedgehog pathway |
| Q33654636 | The Ciliary Transition Zone: Finding the Pieces and Assembling the Gate |
| Q98771764 | The Enigmatic Role of Lipids in Cilia Signaling |
| Q64104926 | The Frog as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in |
| Q38885083 | The expanding phenotypic spectra of kidney diseases: insights from genetic studies |
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