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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
Journal of Clinical Investigation, ISSN 0021-9738, 12/2012, Volume 122, Issue 12, pp. 4505 - 4518
Mps one binder 1a (MOB1A) and MOB1B are key components of the Hippo signaling pathway and are mutated or inactivated in many human cancers. Here we show that... 
MEDICINE, RESEARCH & EXPERIMENTAL | YEAST MOB1 | STEM-CELLS | WW DOMAIN | HIPPO SIGNALING PATHWAY | SONIC HEDGEHOG | HAIR FOLLICLE | PROTEIN-KINASE | MITOTIC EXIT | TUMOR-SUPPRESSOR | SACCHAROMYCES-CEREVISIAE | Abnormalities, Multiple - pathology | Protein Kinases - metabolism | Protein Kinases - genetics | Skin - metabolism | Humans | Homeostasis | Male | Embryo Culture Techniques | Phosphoproteins - metabolism | Genes, Lethal | Neoplasms - genetics | Cell Transformation, Neoplastic - genetics | Female | Cell Differentiation | Skin Abnormalities - pathology | Carcinoma - pathology | Abnormalities, Multiple - genetics | Protein-Serine-Threonine Kinases - metabolism | Skin - pathology | Skin Neoplasms - pathology | Genetic Predisposition to Disease | Tumor Suppressor Proteins - metabolism | Embryo, Mammalian - pathology | Genetic Association Studies | Mice, Inbred C57BL | Cells, Cultured | Phosphoproteins - genetics | Mice, Knockout | Homozygote | Keratinocytes - pathology | Animals | Skin Neoplasms - genetics | Carcinoma - genetics | Skin Abnormalities - genetics | Mice | Neoplasms - pathology | Keratinocytes - physiology | Care and treatment | Carcinoma | Genetic susceptibility | Gene mutations | Keratinocytes | Genetic aspects | Research | Diagnosis | Identification and classification | Cancer | Index Medicus | Abridged Index Medicus | Contact inhibition | Centrosomes | Lethality | Self | Signal transduction | Embryogenesis | Stem cells | Tumor suppressor genes | Skin | Mutation | Differentiation | Malnutrition | Apoptosis | Tumors
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 99 - 110
Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To... 
EPITHELIAL-MESENCHYMAL TRANSITION | FAMILIAL OCCURRENCE | SETLEIS SYNDROME | UNDIAGNOSED DISEASES | GENETICS & HEREDITY | MORPHOLOGY STANDARD TERMINOLOGY | SAETHRE-CHOTZEN SYNDROME | FRAMESHIFT MUTATION | ATROPHIC SKIN | TRANSCRIPTION FACTOR | AUTOSOMAL-DOMINANT INHERITANCE | Abnormalities, Multiple - pathology | Humans | Molecular Sequence Data | Hirsutism - pathology | Mutation, Missense - genetics | Chromatin Immunoprecipitation | Base Sequence | Hypertrichosis - pathology | Skin Abnormalities - pathology | Abnormalities, Multiple - genetics | Eyelid Diseases - genetics | Twist-Related Protein 1 - chemistry | Amino Acid Sequence | Eyelid Diseases - pathology | Repressor Proteins - chemistry | Hirsutism - genetics | Macrostomia - pathology | Hypertelorism - genetics | Models, Molecular | Repressor Proteins - genetics | Zebrafish | Hypertelorism - pathology | Macrostomia - genetics | Eye Abnormalities - genetics | Microscopy, Electron | Sequence Analysis, DNA | Exome - genetics | Phenotype | Animals | Hypertrichosis - genetics | Eye Abnormalities - pathology | Twist-Related Protein 1 - genetics | Protein Conformation | Skin Abnormalities - genetics | HeLa Cells | Physiological aspects | Genetic disorders | Gene mutations | Identification and classification | Genotype & phenotype | Correlation analysis | Amino acids | Mutation | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 11/2016, Volume 31, Issue 11, pp. 1930 - 1942
Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone... 
OSTEOGENESIS IMPERFECTA | PLOD2 | COLLAGEN | LYSYL HYDROXYLASE 2 | BRUCK SYNDROME | TOMOGRAPHY | PROTEIN | CROSS-LINKING | PHENOTYPE | IDENTIFICATION | BONE-COLLAGEN | SYNDROME-OSTEOGENESIS IMPERFECTA | ENDOCRINOLOGY & METABOLISM | MUTATIONS | SKIN | Bone and Bones - pathology | Conserved Sequence - genetics | Osteogenesis Imperfecta - metabolism | Musculoskeletal Abnormalities - complications | Musculoskeletal Abnormalities - pathology | X-Ray Microtomography | Arthrogryposis - diagnostic imaging | Peptides - metabolism | Bone and Bones - diagnostic imaging | Mass Spectrometry | Lysine - metabolism | Arthrogryposis - pathology | Amino Acid Sequence | Catalytic Domain | Collagen Type I - metabolism | Hydroxylation | Larva - metabolism | Musculoskeletal Abnormalities - diagnostic imaging | Arthrogryposis - complications | Osteogenesis Imperfecta - complications | Osteogenesis Imperfecta - diagnostic imaging | Cross-Linking Reagents - metabolism | Phenotype | Animals | Musculoskeletal Abnormalities - metabolism | Calcification, Physiologic | Zebrafish - metabolism | Arthrogryposis - metabolism | Osteogenesis Imperfecta - pathology | Notochord - pathology | Zebrafish Proteins - genetics | Bone and Bones - abnormalities | Codon, Nonsense - genetics | Evolution, Molecular | Enzymes | Dysplasia | Crosslinked polymers | Lysine | Analysis | Collagen | Abnormalities | Bones | Index Medicus
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 11/2017, Volume 77, Issue 5, pp. 874 - 878
CLOVES (congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal anomalies) syndrome is associated with regional bony and/or soft... 
diffuse capillary malformation | macrocephaly–capillary malformation | overgrowth | Wilms tumor | CRITERIA | LIMB | macrocephaly-capillary malformation | MUTATION | RISK | VENOUS MALFORMATION | DERMATOLOGY | Megalencephaly - pathology | Age Distribution | Skin Diseases, Vascular - epidemiology | Capillaries - pathology | Follow-Up Studies | Megalencephaly - diagnostic imaging | Humans | Child, Preschool | Male | Musculoskeletal Abnormalities - pathology | Neonatal Screening | Wilms Tumor - diagnostic imaging | Incidence | Time Factors | Abnormalities, Multiple - epidemiology | Lipoma - epidemiology | Infant, Newborn | Nevus - diagnostic imaging | Risk Assessment | Comorbidity | Musculoskeletal Abnormalities - diagnostic imaging | Nevus - epidemiology | Vascular Malformations - epidemiology | Vascular Malformations - pathology | Magnetic Resonance Imaging | Kidney Neoplasms - diagnostic imaging | Nevus - pathology | Wilms Tumor - epidemiology | Cohort Studies | Abnormalities, Multiple - pathology | Musculoskeletal Abnormalities - epidemiology | Kidney Neoplasms - epidemiology | Infant | Lipoma - pathology | Telangiectasis - diagnostic imaging | Skin Diseases, Vascular - diagnostic imaging | Female | Retrospective Studies | Telangiectasis - pathology | Databases, Factual | Severity of Illness Index | Vascular Malformations - diagnostic imaging | Abnormalities, Multiple - diagnostic imaging | Rare Diseases | Telangiectasis - congenital | Wilms Tumor - pathology | Telangiectasis - epidemiology | Megalencephaly - epidemiology | Sex Distribution | Kidney Neoplasms - pathology | Lipoma - diagnostic imaging | Capillaries - abnormalities | Capillaries - diagnostic imaging | Skin Diseases, Vascular - pathology | Nephroblastoma | Genetic disorders | Tumors | Medicine, Experimental | Medical research | Index Medicus
Journal Article
Journal Article
Clinical Genetics, ISSN 0009-9163, 12/2017, Volume 92, Issue 6, pp. 624 - 631
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2016, Volume 98, Issue 6, pp. 1256 - 1265
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 12/2007, Volume 44, Issue 12, pp. 763 - 771
Journal Article
Journal Article