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The Journal of Pathology, ISSN 0022-3417, 08/2019, Volume 248, Issue 4, pp. 393 - 395
Recent recognition of the key role of primary cilia in orchestrating human development and of the dire consequences of their dysfunction on human health has... 
Talpid3 | molar tooth sign | cerebellar malformation | mouse model | ciliopathies | Joubert syndrome | ONCOLOGY | KIAA0586 | PATHOLOGY | Cerebellum | Brain | Cell survival | Hedgehog protein | Congenital defects | Central nervous system | Mutation | Neurodevelopmental disorders | Cell differentiation | Cilia
Journal Article
Medecine/Sciences, ISSN 0767-0974, 11/2014, Volume 30, Issue 11, pp. 1011 - 1023
Journal Article
Current Opinion in Genetics & Development, ISSN 0959-437X, 06/2019, Volume 56, pp. 22 - 33
Light sensation occurs in photoreceptor outer segments (OS), which derive from highly specialized primary cilia, based on structural and molecular... 
Journal Article
Swiss Medical Forum ‒ Schweizerisches Medizin-Forum, ISSN 1424-3784, 01/2018, Volume 18, Issue 102
Journal Article
Forum Médical Suisse ‒ Swiss Medical Forum, ISSN 1661-6138, 01/2018, Volume 18, Issue 102
Journal Article
Human Mutation, ISSN 1059-7794, 09/2015, Volume 36, Issue 9, pp. 831 - 835
Joubert syndrome (JS) is a recessive neurodevelopmental disorder characterized by a distinctive mid‐hindbrain malformation. JS is part of a group of disorders... 
Talpid3 | sonic hedgehog | KIAA0586 | Joubert syndrome | ciliopathy | Ciliopathy | Sonic hedgehog | ENCODES | PROTEIN | GENETICS & HEREDITY | TALPID3 GENE | PRIMARY CILIUM | Proteins | Genomics | Genotype & phenotype | Neurological disorders | Mutation
Journal Article
Scientific reports, ISSN 2045-2322, 08/2018, Volume 8, Issue 1, pp. 12534 - 1
A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has been fixed in the paper. 
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 12/2017, Volume 13, Issue 12, p. e1007150
Ciliopathies are human disorders caused by dysfunction of primary cilia, ubiquitous organelles involved in transduction of environmental signals such as light... 
COMPLEX | TRANSPORT | EXOCYST | RAB8 | CILIARY MEMBRANE | IN-VIVO | GENETICS & HEREDITY | TRAFFICKING | RHODOPSIN | SYNTAXIN | PRIMARY CILIUM | Ciliary body | Photoreceptors | Physiological research | Opsins | Research | Zebra fish
Journal Article
Journal Article
Journal Article
PLOS Genetics, ISSN 1553-7390, 2015, Volume 11, Issue 10, p. e1005575
Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of... 
LEBER CONGENITAL AMAUROSIS | TRANSITION ZONE | CILIARY MEMBRANE | USHER-SYNDROME | VERTEBRATE PHOTORECEPTORS | GENETICS & HEREDITY | DIFFUSION BARRIER | JOUBERT SYNDROME | OUTER SEGMENT | INTRAFLAGELLAR TRANSPORT | PRIMARY CILIUM | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Polycystic Kidney Diseases - genetics | Retina - metabolism | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Mixed Function Oxygenases - metabolism | rab GTP-Binding Proteins - genetics | Cerebellum - abnormalities | Encephalocele - metabolism | Gene Knockdown Techniques | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Kidney Diseases, Cystic - genetics | Nuclear Proteins - genetics | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Encephalocele - genetics | rab GTP-Binding Proteins - metabolism | Polycystic Kidney Diseases - metabolism | Cilia - pathology | Signal Transduction | Cerebellum - metabolism | Nuclear Proteins - metabolism | Zebrafish | Eye Abnormalities - genetics | Cilia - metabolism | Protein Transport - genetics | Cerebellum - pathology | Cilia - genetics | Kidney Diseases, Cystic - pathology | Proteins - genetics | Kidney Diseases, Cystic - metabolism | Animals | Ciliary Motility Disorders - pathology | Proteins - metabolism | Encephalocele - pathology | Eye Abnormalities - pathology | Retina - abnormalities | Ciliary Motility Disorders - metabolism | Mutation | Mixed Function Oxygenases - genetics | Retina - pathology | Ciliary Motility Disorders - genetics | Physiological aspects | Phenotype | Cell organelles | Cilia and ciliary motion | Analysis | Research & development | Proteins | R&D | Signal transduction | Genotype & phenotype | Photoreceptors | Grants | Localization | Experiments | Defects
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1237 - 1242
Journal Article
PLoS Genetics, ISSN 1553-7390, 10/2015, Volume 11, Issue 10
  Ciliopathies are Mendelian disorders caused by dysfunction of cilia, ubiquitous organelles involved in fluid propulsion (motile cilia) or signal transduction... 
Proteins | Research & development--R&D | Light | Proteomics | Photoreceptors | Scientific imaging | Localization | Experiments | Mass spectrometry
Journal Article
PLoS Genetics, ISSN 1553-7390, 10/2015, Volume 11, Issue 10
  Ciliopathies are a group of human disorders caused by dysfunction of primary cilia, ubiquitous microtubule-based organelles involved in transduction of... 
Proteins | Signal transduction | Genotype & phenotype | Research & development--R&D | Photoreceptors | Mutation | Grants | Localization | Experiments | Defects
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 02/2012, Volume 49, Issue 2, pp. 126 - 137
Journal Article
Plos Genetics, ISSN 1553-7404, 2015, Volume 11, Issue 10, p. e1005574
Journal Article