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PLoS Genetics, ISSN 1553-7390, 09/2009, Volume 5, Issue 9, pp. e1000650 - e1000650
Cornelia de Lange Syndrome (CdLS) is a multi-organ system birth defects disorder linked, in at least half of cases, to heterozygous mutations in the NIPBL... 
SISTER-CHROMATID COHESION | CONTROL REGION | ENHANCER-BLOCKING ACTIVITY | NIPPED-B | CONGENITAL HEART-DISEASE | GENETICS & HEREDITY | GENE-EXPRESSION | ADIPOCYTE DIFFERENTIATION | OPHTHALMOLOGIC FINDINGS | BRACHMANN-DELANGE SYNDROME | MICE LACKING | Bone and Bones - pathology | Cadherins - metabolism | Craniofacial Abnormalities - physiopathology | Heart Defects, Congenital - genetics | Organ Specificity - genetics | Nervous System Malformations - physiopathology | Sister Chromatid Exchange | Craniofacial Abnormalities - pathology | Transcription, Genetic | Cadherins - genetics | Nervous System Malformations - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | De Lange Syndrome - genetics | Disease Models, Animal | Animals, Newborn | Embryo, Mammalian - pathology | De Lange Syndrome - physiopathology | Gene Expression Regulation | Heart Defects, Congenital - pathology | Bone Development | Transcription Factors - genetics | Mutation - genetics | Embryo, Mammalian - abnormalities | Phenotype | Animals | Heart Defects, Congenital - complications | Nervous System Malformations - complications | Survival Analysis | De Lange Syndrome - complications | Heterozygote | Heart Defects, Congenital - physiopathology | Mice | Bone and Bones - abnormalities | De Lange Syndrome - pathology | Index Medicus | Proteins | Video recordings | Colleges & universities | Birth defects | Mutation | Behavior | Experiments | Chromosomes | DNA repair
Journal Article
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 5, pp. 1370 - 1386
Journal Article
American Journal of Medical Genetics. Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 2972 - 2980
textabstractWeaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In... 
histone methyl transferases | Weaver syndrome | EZH2 | Histone methyl transferases | METHYLATION | LYSINE-27 | ANOMALIES | B-CELL LYMPHOMAS | NEUROBLASTOMA | AUTOSOMAL-DOMINANT INHERITANCE | OVERGROWTH | GENETICS & HEREDITY | CERVICAL-SPINE | GIRL | Developmental Disabilities | Polycomb Repressive Complex 2 - genetics | Humans | Child, Preschool | Intellectual Disability - complications | Male | Craniofacial Abnormalities - physiopathology | Intellectual Disability - genetics | Sotos Syndrome - physiopathology | Congenital Hypothyroidism - genetics | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Chromosome Deletion | Hand Deformities, Congenital - complications | Sotos Syndrome - genetics | Congenital Hypothyroidism - physiopathology | Abnormalities, Multiple - physiopathology | Enhancer of Zeste Homolog 2 Protein | Intellectual Disability - physiopathology | Phenotype | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Mutation | Growth Disorders - genetics | Congenital Hypothyroidism - complications | Growth Disorders - complications | Growth Disorders - physiopathology | Hernia | Histones | Genetic aspects | Phenotypes | Camptodactyly | Missense mutation | Intellectual disabilities | Histone methyltransferase | Data processing | Skin | Index Medicus
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 3150 - 3154
Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including... 
GJA1 | pulmonary stenosis | ventricular septal defect | Ventricular septal defect | Pulmonary stenosis | GAP-JUNCTION GENE | CONNEXIN43 | DISEASE | GENETICS & HEREDITY | PHENOTYPE | MICE | MODEL | PREVALENCE | GJA1 MUTATIONS | Tooth Abnormalities - physiopathology | Humans | Pulmonary Valve Stenosis - physiopathology | Foot Deformities, Congenital - genetics | Infant | Male | Fingers - physiopathology | Heart Septal Defects, Ventricular - physiopathology | Craniofacial Abnormalities - physiopathology | Heart Defects, Congenital - genetics | Tooth Abnormalities - complications | Foot Deformities, Congenital - physiopathology | Female | Foot Deformities, Congenital - complications | Fingers - abnormalities | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Infant, Newborn | Connexin 43 - genetics | Syndactyly - complications | Heart Septal Defects, Ventricular - complications | Heart Septal Defects, Ventricular - genetics | Pulmonary Valve Stenosis - genetics | Tooth Abnormalities - genetics | Pulmonary Valve Stenosis - complications | Eye Abnormalities - genetics | Heart Defects, Congenital - complications | Eye Abnormalities - physiopathology | Heart Defects, Congenital - physiopathology | Mutation | Syndactyly - physiopathology | Eye Abnormalities - complications | Syndactyly - genetics | Dysplasia | Congenital heart disease | Genetic disorders | Heart | Hypoplasia | Oculodentodigital dysplasia | Gap junctions | Stenosis | Septum | Connexin 43 | Patients | Organogenesis | Missense mutation | Nose | Syndactyly | Ventricle | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2017, Volume 173, Issue 6, pp. 1586 - 1592
Curry-Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre-axial polysyndactyly, agenesis of the corpus callosum, cutaneous... 
Curry–Jones syndrome | gastrointestinal smooth muscle hamartomas | SMO | somatic mosaic mutations | SMO somatic mosaic mutations | ASYMMETRY | Curry-Jones syndrome | BASAL-CELL CARCINOMA | GENETICS & HEREDITY | RESISTANCE | MUTATIONS | SKIN | MEDULLOBLASTOMA | Skin Abnormalities - surgery | Gastrointestinal Diseases - physiopathology | Craniosynostoses - complications | Skin Abnormalities - complications | Humans | Infant | Craniofacial Abnormalities - surgery | Craniofacial Abnormalities - physiopathology | Craniosynostoses - physiopathology | Smoothened Receptor - genetics | Syndactyly - surgery | Female | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Skin Abnormalities - physiopathology | Syndactyly - complications | Intestines - abnormalities | Craniosynostoses - genetics | Intestines - surgery | Gastrointestinal Diseases - complications | Gastrointestinal Diseases - genetics | Gastrointestinal Diseases - surgery | Skin Abnormalities - genetics | Intestines - physiopathology | Mutation | Syndactyly - physiopathology | Syndactyly - genetics | Gastrointestinal diseases | Gastrointestinal tract diseases | Craniosynostosis | Exploration | Smooth muscle | Hemorrhage | Bleeding | Morbidity | Corpus callosum | Nodules | Distension | Abdomen | Intestine | Skin | Children | Ganglion cells | Pancreas | Neoplasia | Index Medicus | Original
Journal Article
Journal of Pediatric Endocrinology and Metabolism, ISSN 0334-018X, 09/2016, Volume 29, Issue 9, pp. 1111 - 1114
Journal Article
Development, ISSN 0950-1991, 05/2011, Volume 138, Issue 9, pp. 1827 - 1838
Neural crest development involves epithelial-mesenchymal transition (EMT), during which epithelial cells are converted into individual migratory cells.... 
Craniofacial development | Epithelial-mesenchymal transition | Mouse | Cranial neural crest | Chick | EMT | P53 | PROGENITOR CELLS | CARDIAC OUTFLOW TRACT | TUBE DEFECTS | MUSCLE | DEVELOPMENTAL BIOLOGY | SLUG | p53 | P53-MEDIATED APOPTOSIS | MESODERM | DIFFERENTIATION | EXPRESSION | EMBRYOS | Cell Proliferation | Embryo, Mammalian | Epithelial-Mesenchymal Transition - physiology | Craniofacial Abnormalities - embryology | Musculoskeletal Abnormalities - complications | Epithelial-Mesenchymal Transition - genetics | Musculoskeletal Abnormalities - pathology | Musculoskeletal Abnormalities - embryology | Tumor Suppressor Protein p53 - genetics | Neural Crest - metabolism | Tumor Suppressor Protein p53 - physiology | Craniofacial Abnormalities - pathology | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Neural Crest - cytology | Skull - metabolism | Mice, Inbred C57BL | Cells, Cultured | Tumor Suppressor Protein p53 - metabolism | Mice, Transgenic | Chick Embryo | Skull - embryology | Animals | Neural Crest - embryology | Musculoskeletal Abnormalities - genetics | Mice | Laminin - metabolism | Index Medicus | MDM2 protein | Ets-1 protein | Epithelial cells | Craniofacial syndromes | Muscles | Electroporation | Gene expression | Neural crest | Skeletal muscle | p53 protein | Metastases | Signal transduction | Embryogenesis | Molecular modelling | Neural tube | Developmental stages | Cell cycle | Neural stem cells | Skull | Cell migration | Tumors
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2008, Volume 105, Issue 18, pp. 6714 - 6719
Journal Article
Neuropharmacology, ISSN 0028-3908, 12/2013, Volume 75, pp. 549 - 556
Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant disease that results in visible developmental anomalies of the limbs, face, eyes and teeth.... 
Stroke | Hemichannels | Connexin43 | Rare genetic disease | Gap junctional communication | Astrocytes | GAP-JUNCTION CHANNELS | CONNEXIN HEMICHANNELS | CORTICAL ASTROCYTES | NEUROSCIENCES | CX43 HEMICHANNELS | BRAIN ISCHEMIA | MOUSE MODEL | DEFICIENT | PHARMACOLOGY & PHARMACY | MUTATIONS | DECREASED LEVELS | COMMUNICATION | Foot Deformities, Congenital - genetics | Syndactyly - pathology | Cell Death - genetics | Tooth Abnormalities - complications | Craniofacial Abnormalities - pathology | Foot Deformities, Congenital - complications | Cell Death - drug effects | Neurons - drug effects | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Connexin 43 - genetics | Disease Models, Animal | Foot Deformities, Congenital - pathology | Syndactyly - complications | Astrocytes - drug effects | Gap Junctions - pathology | Tooth Abnormalities - genetics | Connexin 43 - metabolism | Glutamic Acid - pharmacology | Mice, Inbred C57BL | Cells, Cultured | Enzyme Inhibitors - pharmacology | Serine - genetics | Mice, Transgenic | Brain Ischemia - physiopathology | Eye Abnormalities - genetics | Mutation - genetics | Brain Infarction - etiology | Animals | Eye Abnormalities - pathology | Tooth Abnormalities - pathology | Connexin 43 - antagonists & inhibitors | Mice | Eye Abnormalities - complications | Syndactyly - genetics | Dysplasia | Gene mutations | Glycine | Glutamate | Analysis | Index Medicus
Journal Article