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The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | SHH | SIGNALING PATHWAY | GENETICS & HEREDITY | PLANAR CELL POLARITY | CEREBELLAR DEVELOPMENT | GLI PROTEINS | MUTATIONS | KIF7 | MEDULLOBLASTOMA | PHENOTYPIC SPECTRUM | PRIMARY CILIA | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing | Index Medicus
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 | Index Medicus
Journal Article
Nature Cell Biology, ISSN 1465-7392, 09/2017, Volume 19, Issue 10, pp. 1178 - 1188
Ciliopathies, including nephronophthisis (NPHP), Meckel syndrome (MKS) and Joubert syndrome (JBTS), can be caused by mutations affecting components of the... 
GENE | MEMBRANE | MECKEL-SYNDROME | PERICENTRIOLAR MATERIAL | NEPHRONOPHTHISIS | MUTATIONS | RPGRIP1L | PRIMARY CILIUM | HUMAN HOMOLOG | BASAL BODY PROTEIN | CELL BIOLOGY | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Retina - metabolism | Humans | Male | Smoothened Receptor - metabolism | Cerebellum - abnormalities | Patched-1 Receptor - genetics | Smoothened Receptor - genetics | Young Adult | Ciliopathies - genetics | Patched-1 Receptor - metabolism | Stochastic Processes | Kidney Diseases, Cystic - genetics | Adult | Female | Membrane Proteins - metabolism | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Cell Line | Genetic Predisposition to Disease | Cilia - pathology | Signal Transduction | Membrane Proteins - genetics | Cerebellum - metabolism | Mice, Inbred C57BL | Eye Abnormalities - genetics | Cilia - metabolism | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Carrier Proteins - genetics | Kidney Diseases, Cystic - metabolism | Phenotype | Animals | Carrier Proteins - metabolism | Ciliopathies - metabolism | Eye Abnormalities - pathology | Image Processing, Computer-Assisted | Microscopy, Fluorescence - methods | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Retina - abnormalities | Mutation | Adaptor Proteins, Signal Transducing - metabolism | Retina - pathology | Ciliopathies - pathology | Brain | Meckel's syndrome | Nephronophthisis | Architecture | Congenital defects | Transition zone | Neurodevelopmental disorders | Membrane proteins | Proteins | Signaling | Protein composition | Microscopy | Animal behavior | Stochasticity | Disruption | Localization | Index Medicus
Journal Article
Nature Neuroscience, ISSN 1097-6256, 08/2013, Volume 16, Issue 8, pp. 1000 - 1007
The construction of cerebral cortex begins with the formation of radial glia. Once formed, polarized radial glial cells divide either symmetrically or... 
JOUBERT-SYNDROME | PROTEIN | CORTICAL-NEURONS | ARL13B | BASAL PROGENITORS | NEUROGENESIS | DIFFERENTIATION | CILIOGENESIS | CEREBROSPINAL-FLUID | DEVELOPING CEREBRAL-CORTEX | NEUROSCIENCES | Cilia - physiology | Cell Polarity | Neuroglia - ultrastructure | Eye Abnormalities - enzymology | Humans | Nerve Tissue Proteins - deficiency | Epithelium - ultrastructure | Cerebellum - abnormalities | Cerebellar Diseases - enzymology | Neural Stem Cells - ultrastructure | Neurogenesis - genetics | Cerebellar Diseases - pathology | Axoneme - ultrastructure | Retina - enzymology | Cell Division | Kidney Diseases, Cystic - genetics | ADP-Ribosylation Factors - physiology | Cilia - enzymology | ADP-Ribosylation Factors - genetics | Cerebral Cortex - abnormalities | Kidney Diseases, Cystic - enzymology | Nerve Tissue Proteins - physiology | Neuroglia - physiology | Abnormalities, Multiple | Neural Stem Cells - physiology | Telencephalon - embryology | Eye Abnormalities - genetics | ADP-Ribosylation Factors - deficiency | Nerve Tissue Proteins - genetics | Mice, Inbred C3H | Kidney Diseases, Cystic - pathology | Mice, Knockout | Animals | Cerebellar Diseases - genetics | Cerebral Cortex - embryology | Eye Abnormalities - pathology | Cerebral Ventricles - abnormalities | Neurogenesis - physiology | Retina - abnormalities | Cerebral Cortex - growth & development | Mice | Retina - pathology | Telencephalon - ultrastructure | Brain | Cerebral cortex | Cilia and ciliary motion | Neuroglia | Physiological aspects | Research | Neurophysiology | Index Medicus
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 2015, Volume 52, Issue 8, pp. 514 - 522
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2015, Volume 125, Issue 9, pp. 3657 - 3666
Juvenile ciliopathy syndromes that are associated with renal cysts and premature renal failure are commonly the result of mutations in the gene encoding... 
MEDICINE, RESEARCH & EXPERIMENTAL | CILIARY | CELLS | CILIOPATHIES | GENE | S PHASE | DISEASE | GENERATION | MUTATIONS | MODEL | DAMAGE | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Retina - metabolism | Kidney - pathology | Microtubule-Associated Proteins - genetics | Microtubule-Associated Proteins - metabolism | Humans | Cerebellum - abnormalities | Neoplasm Proteins - metabolism | Centrioles - pathology | Kidney - metabolism | Antigens, Neoplasm - metabolism | Kidney Diseases, Cystic - genetics | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Antigens, Neoplasm - genetics | Cell Line | Zebrafish Proteins - metabolism | Cerebellum - metabolism | DNA Replication | Nuclear Proteins - metabolism | Eye Abnormalities - genetics | Zebrafish - genetics | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Kidney Diseases, Cystic - metabolism | Animals | Eye Abnormalities - pathology | Zebrafish - metabolism | Centrioles - genetics | Retina - abnormalities | Mice | Centrioles - metabolism | DNA Damage | Zebrafish Proteins - genetics | Retina - pathology | Physiological aspects | Cellular proteins | DNA replication | Research | Joubert syndrome | Risk factors | Mutation | Kinases | DNA damage | Rodents | Cell cycle | Index Medicus | Abridged Index Medicus
Journal Article
Ultrasound in Obstetrics & Gynecology, ISSN 0960-7692, 03/2019, Volume 53, Issue 3, pp. 390 - 395
Objective Prenatal diagnosis of midbrain-hindbrain (MB-HB) malformations relies primarily on abnormal size and shape of the cerebellum and retrocerebellar... 
cerebellar hypoplasia | fetal neurosonography | Joubert syndrome | vermian hypoplasia | brain | fourth ventricle | rhombencephalosynapsis | vermian agenesis | DIAGNOSIS | CEREBELLAR | ABNORMALITIES | NOMOGRAMS | OBSTETRICS & GYNECOLOGY | ACOUSTICS | SAGITTAL CRANIAL PLANE | POSTERIOR-FOSSA | HINDBRAIN | MIDBRAIN | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Abnormalities, Multiple - pathology | Eye Abnormalities - diagnostic imaging | Prospective Studies | Humans | Kidney Diseases, Cystic - diagnostic imaging | Infant | Nervous System Malformations - diagnostic imaging | Cerebellum - abnormalities | Developmental Disabilities - diagnostic imaging | Fourth Ventricle - diagnostic imaging | Developmental Disabilities - pathology | Cerebellum - diagnostic imaging | Cerebellar Diseases - diagnostic imaging | Cerebellar Diseases - pathology | Female | Fetus | Ultrasonography, Prenatal - methods | Retrospective Studies | Rhombencephalon - abnormalities | Cross-Sectional Studies | Cerebellar Diseases - epidemiology | Nervous System Malformations - pathology | Abnormalities, Multiple - diagnostic imaging | Mesencephalon - abnormalities | Gestational Age | Nervous System Malformations - epidemiology | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Developmental Disabilities - epidemiology | Pregnancy | Mesencephalon - diagnostic imaging | Retina - diagnostic imaging | Prenatal Diagnosis - standards | Eye Abnormalities - pathology | Fourth Ventricle - anatomy & histology | Retina - abnormalities | Fourth Ventricle - pathology | Rhombencephalon - diagnostic imaging | Retina - pathology | Medicine, Experimental | Medical research | Brain | Pregnant women | Analysis | Cerebellum | Hypoplasia | Neuroimaging | Medical imaging | Mesencephalon | Congenital defects | Fetuses | Ventricles (cerebral) | Neurodevelopmental disorders | Neurology | Prenatal diagnosis | Hindbrain | Diagnosis | Ventricle | Ultrasound | Anomalies | Index Medicus
Journal Article
Developmental Cell, ISSN 1534-5807, 11/2012, Volume 23, Issue 5, pp. 925 - 938
Journal Article