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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 | Congenital ataxia | Hypomorphic variants | Developmental defects | Ciliopathies | Polymicrogyria | Molar tooth sign | 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
Journal Article
Journal Article
Disease models & mechanisms, ISSN 1754-8403, 01/2011, Volume 4, Issue 1, pp. 43 - 56
Meckel-Gruber syndrome (MKS) is a recessive disorder resulting in multiple birth defects that are associated with mutations affecting ciliogenesis. We... 
JOUBERT-SYNDROME | FLOOR PLATE | GENE | POLYCYSTIC KIDNEY-DISEASE | NODAL FLOW | PLANAR CELL POLARITY | LEFT-RIGHT ASYMMETRY | MUTATIONS | PATHOLOGY | INTRAFLAGELLAR TRANSPORT | BASAL BODY PROTEIN | CELL BIOLOGY | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Hair Cells, Auditory - pathology | Epithelial Cells - metabolism | Hedgehog Proteins - metabolism | Molecular Sequence Data | Encephalocele - metabolism | Centrioles - pathology | Neural Tube - pathology | Polycystic Kidney Diseases - pathology | Retinitis Pigmentosa | Body Patterning | Cilia - ultrastructure | Fibroblasts - metabolism | Amino Acid Sequence | Polycystic Kidney Diseases - metabolism | Cilia - pathology | Embryo, Mammalian - pathology | Signal Transduction | Epithelial Cells - pathology | Fibroblasts - pathology | Mutation - genetics | Organ Specificity | Cilia - metabolism | Embryo, Mammalian - abnormalities | Kidney Diseases, Cystic - pathology | Protein Transport | Hair Cells, Auditory - ultrastructure | Animals | Ciliary Motility Disorders - pathology | Proteins - metabolism | Encephalocele - pathology | Neural Tube - ultrastructure | Kidney Diseases, Cystic - complications | Mice | Centrioles - metabolism | Ciliary Motility Disorders - metabolism | Proteins - chemistry | Neural Tube - embryology | Neural Tube - abnormalities
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2003, Volume 361, Issue 9371, pp. 1773 - 1778
Journal Article
American journal of human genetics, ISSN 0002-9297, 11/2013, Volume 93, Issue 5, pp. 915 - 925
Intraflagellar transport (IFT) depends on two evolutionarily conserved modules, subcomplexes A (IFT-A) and B (IFT-B), to drive ciliary assembly and... 
VAN-CREVELD-SYNDROME | DYNC2H1 MUTATIONS | GENE | DISEASE | GENETICS & HEREDITY | CILIOPATHY | RIB-POLYDACTYLY SYNDROME | CILIA | KIDNEY | ASPHYXIATING THORACIC DYSTROPHY | INTRAFLAGELLAR TRANSPORT PROTEIN | Bone and Bones - pathology | Humans | Asian Continental Ancestry Group - genetics | Molecular Sequence Data | Male | Intracellular Signaling Peptides and Proteins - metabolism | Ellis-Van Creveld Syndrome - genetics | Ellis-Van Creveld Syndrome - pathology | Gene Knockdown Techniques | Bone and Bones - metabolism | Kidney Diseases, Cystic - genetics | Ectodermal Dysplasia - pathology | Female | Intracellular Signaling Peptides and Proteins - genetics | Cytoplasmic Dyneins - metabolism | Dyneins - metabolism | Amino Acid Sequence | European Continental Ancestry Group - genetics | Craniosynostoses - genetics | Cytoplasmic Dyneins - genetics | Retinitis Pigmentosa - genetics | Cerebellar Ataxia - pathology | Fibroblasts - pathology | Zebrafish - genetics | Kidney Diseases, Cystic - pathology | Phenotype | Animals | Cerebellar Ataxia - genetics | Epistasis, Genetic | Alleles | Ectodermal Dysplasia - genetics | Dyneins - genetics | Mutation | Bone and Bones - abnormalities | Retinitis Pigmentosa - pathology | Craniosynostoses - pathology | Physiological aspects | Ciliata | Genetic aspects | Research | Gene expression | Biological transport, Active | Report
Journal Article
American journal of human genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 770 - 776
Journal Article