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Developmental biology, ISSN 0012-1606, 2016, Volume 415, Issue 2, pp. 326 - 337
The chicken has been a particularly useful model for the study of craniofacial development and disease for over a century due to their relatively large size,... 
Oral-facial-digital syndrome | Primary cilia | Joubert syndrome | talpid3 | Ciliopathies | talpid2 | Chicken | Craniofacial | Talpid | SONIC HEDGEHOG | FACIAL-DIGITAL SYNDROME | DEVELOPMENTAL BIOLOGY | CENTROSOMAL PROTEIN | JOUBERT-SYNDROME | TALPID CILIOPATHY | CEPHALIC NEURAL CREST | DEVELOPMENTAL ABNORMALITIES | talpid | MOUSE MODEL | MECKEL-GRUBER-SYNDROME | Abnormalities, Multiple - metabolism | Ciliopathies - embryology | Retina - metabolism | Humans | Craniofacial Abnormalities - embryology | Cerebellum - abnormalities | Craniofacial Abnormalities - veterinary | Genes, Lethal | Ciliopathies - genetics | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Chickens - genetics | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Maxillofacial Development - genetics | Poultry Diseases - genetics | Disease Models, Animal | Polydactyly - genetics | Genetic Association Studies | Animals, Genetically Modified | Cerebellum - metabolism | Orofaciodigital Syndromes - genetics | Eye Abnormalities - genetics | Chick Embryo | Poultry Diseases - embryology | Ciliopathies - veterinary | Kidney Diseases, Cystic - metabolism | Animals | Retina - abnormalities | Mice | Polydactyly - veterinary | Mutation | Cell Cycle Proteins - physiology | Orofaciodigital Syndromes - embryology | Surgery, Plastic | Developmental biology | Analysis | Genomics | Medicine, Experimental | Medical research | chicken | ciliopathies | primary cilia | craniofacial
Journal Article
Nature communications, ISSN 2041-1723, 2016, Volume 7, Issue 1, p. 11491
Journal Article
Human molecular genetics, ISSN 0964-6906, 12/2017, Volume 26, Issue 23, pp. 4657 - 4667
Joubert syndrome (JBTS) is the archetypal ciliopathy caused by mutation of genes encoding ciliary proteins leading to multisystem phenotypes, including a... 
LOCALIZATION | ACTIVATION | CILIOPATHIES | PATHWAY | POLYCYSTIC KIDNEY-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | LENGTH | GENETICS & HEREDITY | MUTATIONS | CEP290 | CENTROSOMAL PROTEIN | FEATURES | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Polycystic Kidney Diseases - genetics | Retina - metabolism | Epithelial Cells - drug effects | Eye Abnormalities - drug therapy | Humans | Child, Preschool | Kidney Diseases, Cystic - drug therapy | Male | Abnormalities, Multiple - drug therapy | Cerebellum - abnormalities | Neoplasm Proteins - metabolism | Ciliopathies - drug therapy | Cyclin-Dependent Kinase 5 - genetics | Ciliopathies - genetics | Kidney Failure, Chronic - pathology | Antigens, Neoplasm - metabolism | Cilia - drug effects | Kidney Diseases, Cystic - genetics | Roscovitine | Purines - therapeutic use | Neoplasm Proteins - genetics | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Morpholines - therapeutic use | Antigens, Neoplasm - genetics | Cilia - pathology | Signal Transduction | Cerebellum - metabolism | Epithelial Cells - pathology | Eye Abnormalities - genetics | Cilia - metabolism | Cerebellum - pathology | Cilia - genetics | Cyclin-Dependent Kinase 5 - metabolism | Kidney Diseases, Cystic - pathology | Kidney Failure, Chronic - metabolism | Kidney Failure, Chronic - genetics | Kidney Diseases, Cystic - metabolism | Ciliopathies - metabolism | Eye Abnormalities - pathology | Pedigree | Retina - abnormalities | Mutation | Primary Cell Culture | Retina - pathology
Journal Article
Journal of bone and mineral research, ISSN 0884-0431, 02/2019, Volume 34, Issue 2, pp. 375 - 386
Journal Article
Journal Article
Clinical journal of the American Society of Nephrology, ISSN 1555-905X, 2017, Volume 12, Issue 12, pp. 1974 - 1983
Background and objectives Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date,... 
Prevalence | Nephronophthisis related ciliopathy | Ciliopathies | Joubert-like syndromes | NEPHREG registry | Bardet-Biedl syndrome | Senior-Løken syndrome | Congenital oculomotor apraxia | Genetic heterogeneity | Kidney diseases, cystic | Homozygote | Kidney failure, chronic | Nephronophthisis (NPH) | Adolescent | Mainzer-Saldino syndrome | Registries | Mutation | COACH syndrome | Nephronophthisis, familial juvenile | Cross-Sectional studies | ADOLESCENT NEPHRONOPHTHISIS | JOUBERT-SYNDROME | FAMILIAL JUVENILE NEPHRONOPHTHISIS | SENIOR-LOKEN SYNDROME | CYSTIC KIDNEY-DISEASE | GENE | RENAL-FAILURE | UROLOGY & NEPHROLOGY | NPHP3 | MUTATIONS | DOMAIN PROTEIN | Polyuria - genetics | Humans | Kidney Diseases, Cystic - diagnostic imaging | Male | Ciliopathies - complications | Nervous System Diseases - genetics | Young Adult | Ciliopathies - genetics | Anemia - genetics | Kidney - diagnostic imaging | Ultrasonography | Kidney Diseases, Cystic - genetics | Kinesin - genetics | Female | Glomerular Filtration Rate - genetics | Neoplasm Proteins - genetics | Child | Calmodulin-Binding Proteins - genetics | Kidney Failure, Chronic - physiopathology | Antigens, Neoplasm - genetics | Cross-Sectional Studies | Membrane Proteins - genetics | Kidney Failure, Chronic - genetics | Proteins - genetics | Carrier Proteins - genetics | Phenotype | Adaptor Proteins, Signal Transducing - genetics | Kidney Diseases, Cystic - complications | Kidney Diseases, Cystic - congenital | Longitudinal Studies | Genetic Heterogeneity | Kidney Diseases, Cystic | Kidney Failure, Chronic | Original
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3231 - 3237
Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth appearance... 
rare disorders | Joubert syndrome | INPP5E | molar‐tooth sign | ciliopathy | molar-tooth sign | INPP5E MUTATIONS | AUTOPHAGOSOME-LYSOSOME FUSION | CILIOPATHIES | DISEASE | GENETICS & HEREDITY | DISORDERS | Abnormalities, Multiple - pathology | Eye Abnormalities - diagnostic imaging | Humans | Kidney Diseases, Cystic - diagnostic imaging | Cerebellum - abnormalities | Ciliopathies - diagnosis | Young Adult | Ciliopathies - genetics | Cerebellum - diagnostic imaging | Kidney Diseases, Cystic - genetics | Female | Abnormalities, Multiple - genetics | Phosphoric Monoester Hydrolases - genetics | Cilia - pathology | Abnormalities, Multiple - diagnostic imaging | Eye Abnormalities - genetics | Fibroblasts - pathology | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Homozygote | Magnetic Resonance Imaging | Retina - diagnostic imaging | Phenotype | Eye Abnormalities - pathology | Pedigree | Adolescent | Retina - abnormalities | Mutation | Retina - pathology | Ciliopathies - pathology | Medicine, Experimental | Medical research | Inositol | Phosphatases | RNA | Analysis | Cerebellum | Brain | Brain stem | Congenital defects | Teeth | Cognitive ability | Inositol polyphosphate | Retina | mRNA | Neurodevelopmental disorders | Sleep disorders | Apnea | Magnetic resonance imaging | Polydactyly | Fibroblasts | Retinal degeneration | Hindbrain | Ataxia | Inositol-1,4,5-trisphosphate 5-phosphatase | Cilia
Journal Article