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Clinical Genetics, ISSN 0009-9163, 10/2014, Volume 86, Issue 4, pp. 318 - 325
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2012, Volume 158A, Issue 2, pp. 269 - 291
The macrocephaly‐capillary malformation syndrome (M‐CM), which we here propose to rename the megalencephaly‐capillary malformation syndrome (MCAP;... 
ventriculomegaly | polymicrogyria | mega corpus callosum | connective tissue dysplasia | hydrocephalus | syndactyly | megalencephaly | capillary malformation | polydactyly | cerebellar tonsillar ectopia | Capillary malformation | Megalencephaly | Hydrocephalus | Ventriculomegaly | Connective tissue dysplasia | Polydactyly | Polymicrogyria | Syndactyly | Cerebellar tonsillar ectopia | Mega corpus callosum | PERISYLVIAN POLYMICROGYRIA | MOTOR DEVELOPMENT | GENETICS & HEREDITY | MACROCEPHALY-CUTIS-MARMORATA | MEGA-CORPUS-CALLOSUM | PSYCHOMOTOR RETARDATION | PATIENT | OF-THE-LITERATURE | DIAGNOSTIC-CRITERIA | CONNECTIVE-TISSUE | MARMORATA-TELANGIECTATICA-CONGENITA | Megalencephaly - pathology | Capillaries - pathology | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Hydrocephalus - pathology | Infant | Male | Polydactyly - diagnosis | Syndactyly - pathology | Brain - growth & development | Morphogenesis | Malformations of Cortical Development - diagnosis | Female | Malformations of Cortical Development - pathology | Child | Neuroimaging - methods | Diagnosis, Differential | Hydrocephalus - diagnosis | Connective Tissue Diseases - diagnosis | Megalencephaly - diagnosis | Connective Tissue Diseases - pathology | Megalencephaly - classification | Brain - pathology | Syndactyly - diagnosis | Polydactyly - pathology
Journal Article
Nature, ISSN 0028-0836, 05/2017, Volume 545, Issue 7652, pp. 54 - 59
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 06/2017, Volume 32, Issue 6, pp. 1368 - 1385
ABSTRACT We present for the first time the generation of induced pluripotent stem cells (iPSCs) from a patient with a connexin‐linked disease. The importance... 
CONNEXIN | IPSC | OSTEOGENIC DIFFERENTIATION | CHONDROGENIC DIFFERENTIATION | GAP JUNCTIONAL INTERCELLULAR COMMUNICATION | GJIC | INDUCED PLURIPOTENT STEM CELL | OCULODENTODIGITAL DYSPLASIA | CX43 MUTATIONS | NEUROLOGICAL MANIFESTATIONS | GAP JUNCTIONAL COMMUNICATION | FUNCTIONAL-CHARACTERIZATION | MUTATIONS CAUSE | PALMOPLANTAR KERATODERMA | INTERCELLULAR COMMUNICATION | ENDOCRINOLOGY & METABOLISM | CENTRAL-NERVOUS-SYSTEM | Induced Pluripotent Stem Cells - pathology | Gap Junctions - metabolism | Tooth Abnormalities - genetics | Humans | Foot Deformities, Congenital - genetics | Syndactyly - pathology | Eye Abnormalities - genetics | Mutation - genetics | Collagen - metabolism | Eye Abnormalities - pathology | Tooth Abnormalities - pathology | Craniofacial Abnormalities - pathology | Dermis - pathology | Cell Differentiation | Chondrogenesis | Craniofacial Abnormalities - genetics | Osteogenesis | Connexin 43 - genetics | Fibroblasts - metabolism | Foot Deformities, Congenital - pathology | Induced Pluripotent Stem Cells - metabolism | Syndactyly - genetics | RNA | Dysplasia | Stem cells | Hypoplasia | Intercellular signalling | Oculodentodigital dysplasia | Gap junctions | Homeostasis | mRNA | Bone turnover | Connexin 43 | Hereditary diseases | Cartilage | Dental enamel | Osteoblastogenesis | Bone dysplasia | Syndactyly | Mutation | Localization | Pluripotency | Inhibitory postsynaptic potentials
Journal Article
Nature, ISSN 0028-0836, 03/2011, Volume 471, Issue 7337, pp. 230 - 234
Journal Article