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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
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2015, Volume 112, Issue 18, pp. E2395 - E2402
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 12/2017, Volume 12, Issue 12, pp. 1962 - 1973
Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and... 
Cerebellum | Hypertension | Polycystic kidney, autosomal recessive | Nephronophthisis | Joubert syndrome 1 | Ciliopathies | Retina | Cystic kidney | Prospective studies | Kidney diseases, cystic | Abnormalities, multiple | Genetic renal disease | Kidney | Sequence analysis, DNA | Pregnancy | Ciliopathy | Multicystic dysplastic kidney | Eye abnormalities | Phenotype | Kidney failure, chronic | Genetic association studies | Ultrasonography, prenatal | Mutation | Polycystic kidney disease | URINARY-TRACT MALFORMATIONS | MULTICYSTIC DYSPLASTIC KIDNEY | UROLOGY & NEPHROLOGY | FOLLOW-UP | DISORDERS | MUTATIONS | ATAXIA | SENIOR-LOKEN | MOLAR TOOTH SIGN | CHILDREN | Abnormalities, Multiple - metabolism | Retina - metabolism | Eye Abnormalities - diagnostic imaging | Prospective Studies | Multicystic Dysplastic Kidney - complications | Humans | Child, Preschool | Kidney Diseases, Cystic - diagnostic imaging | Infant | Male | Cerebellum - abnormalities | Polycystic Kidney, Autosomal Recessive - genetics | Young Adult | Cerebellum - diagnostic imaging | Polycystic Kidney, Autosomal Recessive - complications | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Adult | Female | Neoplasm Proteins - genetics | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Antigens, Neoplasm - genetics | Multicystic Dysplastic Kidney - genetics | Membrane Proteins - genetics | Cerebellum - metabolism | Abnormalities, Multiple - diagnostic imaging | Genotype | Eye Abnormalities - genetics | Polycystic Kidney, Autosomal Recessive - diagnostic imaging | Kidney Failure, Chronic - genetics | Proteins - genetics | Magnetic Resonance Imaging | Retina - diagnostic imaging | Kidney Diseases, Cystic - metabolism | Multicystic Dysplastic Kidney - diagnostic imaging | Ultrasonography, Prenatal | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Age of Onset | Retina - abnormalities | Kidney Diseases, Cystic - complications | Kidney Diseases, Cystic - congenital | Eye Abnormalities - complications | Kidney Failure, Chronic - etiology | Index Medicus | nephronophthisis | cystic kidney | kidney | Eye Abnormalities | polycystic kidney disease | Kidney Diseases, Cystic | Multicystic Dysplastic Kidney | Polycystic Kidney, Autosomal Recessive | Genetic Association Studies | Abnormalities, Multiple | Sequence Analysis, DNA | genetic renal disease | ciliopathy | Kidney Failure, Chronic | Original | hypertension
Journal Article
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 2019, p. bjophthalmol-2018-313002
The aim of this study was to provide a classification of the different retinal vascular arrangements in neurofibromatosis 1 (NF1), with appropriate qualitative... 
ophthalmoscopy | NF1 | moya-moya disease | NIR-OCT | retina | microvascular abnormalities
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
Medicine, ISSN 0025-7974, 05/2019, Volume 98, Issue 20, pp. e15655 - e15655
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
PLoS ONE, ISSN 1932-6203, 02/2013, Volume 8, Issue 12, pp. e84685 - e84685
Journal Article