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Neuron (Cambridge, Mass.), ISSN 0896-6273, 2016, Volume 92, Issue 5, pp. 949 - 958
Zika virus (ZIVK) represents a new threat to global health, with particular relevance to neuroscientists, due to associated newborn and adult neurological... 
microcephaly | acute flaccid paralysis | vertical transmission | neurovirology | antibody-mediated enhancement | interferon | Guillain-Barré syndrome | Zika | flavivirus | NEURAL PROGENITORS | FLACCID PARALYSIS | STEM-CELLS | WEST-NILE-VIRUS | CONGENITAL CYTOMEGALOVIRUS-INFECTION | CROSS-REACTIVITY | CENTRAL-NERVOUS-SYSTEM | VERTICAL TRANSMISSION | DENGUE VIRUS | NEUROSCIENCES | BRAIN | Meningoencephalitis - physiopathology | Pregnancy Complications, Infectious - virology | Blindness - physiopathology | Humans | Brain - virology | Interferons - immunology | Microcephaly - virology | Pregnancy Complications, Infectious - physiopathology | Meningoencephalitis - immunology | Pregnancy Complications, Infectious - immunology | Zika Virus Infection - virology | Microcephaly - immunology | Female | Microcephaly - physiopathology | Infant, Newborn | Zika Virus - pathogenicity | Cognitive Dysfunction - virology | Cell Survival | Zika Virus Infection - physiopathology | Brain - physiopathology | Neural Stem Cells - virology | Zika Virus - physiology | Retinal Neurons - virology | Guillain-Barre Syndrome - physiopathology | Cognitive Dysfunction - physiopathology | Pregnancy | Guillain-Barre Syndrome - immunology | Meningoencephalitis - virology | Neurogenesis - physiology | Zika Virus Infection - immunology | Guillain-Barre Syndrome - virology | Blindness - virology | Brain - immunology | Nervous system diseases | Guillain-Barre syndrome | Neurons | Cell death | Analysis | Stem cells | Disease susceptibility | Health aspects | Neurophysiology | Interferon | Paralysis | Biological response modifiers | Brain | Encephalitis | Neurosciences | Congenital diseases | Pandemics | Disease | Neurobiology | Zika virus | Infections | Vaccines | Kinases | Microcephaly | Proteins | Mosquitoes | Rodents | Meningitis
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2018, Volume 176, Issue 2, pp. 465 - 469
RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions... 
microcephaly | RNU4ATAC | Lowry Wood syndrome | skeletal dysplasia | epiphyseal dysplasia | TAYBI-LINDER SYNDROME | DEVELOPMENTAL DISORDER | OSTEODYSPLASTIC PRIMORDIAL DWARFISM | SHORT STATURE | NYSTAGMUS | U4ATAC SNRNA | GENETICS & HEREDITY | PATIENT | MOPD I | ASSOCIATION | Retinal Diseases - genetics | Microcephaly - genetics | Humans | Child, Preschool | Mental Retardation, X-Linked - physiopathology | Fetal Growth Retardation - genetics | Male | Developmental Disabilities - genetics | Intellectual Disability - genetics | Cardiomyopathies - genetics | Cardiomyopathies - physiopathology | Mental Retardation, X-Linked - genetics | Osteochondrodysplasias - genetics | RNA, Small Nuclear - genetics | Female | Microcephaly - physiopathology | Dwarfism - physiopathology | Developmental Disabilities - physiopathology | Fetal Growth Retardation - physiopathology | Intellectual Disability - physiopathology | Primary Immunodeficiency Diseases | Dwarfism - genetics | Osteochondrodysplasias - physiopathology | Phenotype | Immunologic Deficiency Syndromes - physiopathology | Adolescent | Immunologic Deficiency Syndromes - genetics | Mutation | Growth Disorders - genetics | Retinal Diseases - physiopathology | Growth Disorders - physiopathology | Medicine, Experimental | Medical research | Dysplasia | Genetic aspects | Immunodeficiency | Dwarfism | Bone dysplasia | Skeleton | Microencephaly | Microcephaly | Etiology
Journal Article
European journal of medical genetics, ISSN 1769-7212, 2016, Volume 59, Issue 11, pp. 577 - 583
Abstract Raine syndrome is a rare autosomal recessive bone dysplasia characterized by characteristic facial features with exophthalmos and generalized... 
Medical Education | Raine syndrome | FAM20C gene | Kohlschutter-Tonz syndrome | OSTEOSCLEROTIC BONE DYSPLASIA | GENETICS & HEREDITY | FAM20C | MUTATIONS | Cleft Palate - diagnosis | Microcephaly - genetics | Seizures - genetics | Bone Diseases, Developmental - mortality | Casein Kinase I - genetics | Humans | Dementia - diagnosis | Dementia - physiopathology | Learning Disorders - physiopathology | Male | Cleft Palate - genetics | Epilepsy - mortality | Microcephaly - mortality | Abnormalities, Multiple - mortality | Amelogenesis Imperfecta - genetics | Bone Diseases, Developmental - genetics | Epilepsy - physiopathology | Exophthalmos - mortality | Dementia - genetics | Bone Diseases, Developmental - physiopathology | Osteosclerosis - mortality | Seizures - physiopathology | Amelogenesis Imperfecta - diagnosis | Exophthalmos - genetics | Amelogenesis Imperfecta - mortality | Epilepsy - genetics | Female | Microcephaly - physiopathology | Osteosclerosis - genetics | Abnormalities, Multiple - genetics | Diagnosis, Differential | Cleft Palate - mortality | Osteosclerosis - diagnosis | Amelogenesis Imperfecta - physiopathology | Extracellular Matrix Proteins - genetics | Microcephaly - diagnosis | Exophthalmos - physiopathology | Cleft Palate - physiopathology | Abnormalities, Multiple - physiopathology | Exophthalmos - diagnosis | Dementia - mortality | Epilepsy - diagnosis | Phenotype | Abnormalities, Multiple - diagnosis | Adolescent | Learning Disorders - genetics | Osteosclerosis - physiopathology | Biodegradation | Dysplasia | Learning disabilities | Diagnosis | Seizures (Medicine) | Casein
Journal Article
Journal of human genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial... 
BLEPHAROPHIMOSIS | LIGASE UBE3B | MUTATIONS | GENE | OCULOCEREBROFACIAL SYNDROME | GENETICS & HEREDITY | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Nerve Tissue Proteins | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Membrane Proteins | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology | small phalanges | UBE3B | Kaufman oculo-cerebro-facial syndrome | DOORS | whole exome sequencing
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 03/2016, Volume 53, Issue 3, pp. 152 - 162
Journal Article
American journal of human genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 637 - 648
Journal Article
Human molecular genetics, ISSN 0964-6906, 12/2015, Volume 24, Issue 23, pp. 6603 - 6613
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 2016, Volume 59, Issue 10, pp. 522 - 525
Abstract Mutations in MECP2 (MIM #312750), located on Xq28 and encoding a methyl CpG binding protein, are classically associated with Rett syndrome in female... 
Medical Education | X-linked intellectual disability | PPM-X syndrome | MECP2 gene | Rett syndrome | Angelman-like phenotype | MENTAL-RETARDATION | RETT-SYNDROME | GENE | MOUSE MODEL | GENETICS & HEREDITY | Rett Syndrome - complications | Mental Retardation, X-Linked - complications | Microcephaly - genetics | Humans | Middle Aged | Genetic Diseases, X-Linked - complications | Mental Retardation, X-Linked - physiopathology | Intellectual Disability - complications | Male | Epilepsy - physiopathology | Methyl-CpG-Binding Protein 2 - genetics | Ocular Motility Disorders - genetics | Intellectual Disability - genetics | Mental Retardation, X-Linked - genetics | Adult | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - genetics | Microcephaly - physiopathology | Ataxia - genetics | Genetic Diseases, X-Linked - physiopathology | Ataxia - physiopathology | Microcephaly - complications | Genes, X-Linked - genetics | Rett Syndrome - physiopathology | Epilepsy - complications | Intellectual Disability - physiopathology | Phenotype | Pedigree | Muscle Spasticity - complications | Aged | Ataxia - complications | Muscle Spasticity - physiopathology | Ocular Motility Disorders - complications | Ocular Motility Disorders - physiopathology | Rett Syndrome - genetics | Muscle Spasticity - genetics | Family | Genetic aspects | Mental illness | Language acquisition | Protein binding
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 07/2013, Volume 21, Issue 7, pp. 736 - 742
Journal Article
Proceedings of the National Academy of Sciences - PNAS, ISSN 1091-6490, 2019, Volume 116, Issue 9, pp. 3662 - 3667
Kaufman oculocerebrofacial syndrome (KOS) is a recessive neurodevelopmental disorder characterized by intellectual disability and lack of speech. KOS is caused... 
BCKDK | Ubiquitination | Intellectual disability | UBE3B | Autism spectrum disorder | AUTISM | DE-NOVO MUTATIONS | ubiquitination | MULTIDISCIPLINARY SCIENCES | KAUFMAN OCULOCEREBROFACIAL SYNDROME | SPECTRUM | autism spectrum disorder | intellectual disability | CHILDREN | Limb Deformities, Congenital - genetics | Protein Kinases - genetics | Microcephaly - genetics | Humans | Limb Deformities, Congenital - physiopathology | Male | Intellectual Disability - genetics | Facies | Adult | Microcephaly - physiopathology | Language Development Disorders - physiopathology | Child | Language Development Disorders - genetics | Brain - physiopathology | Ubiquitin - genetics | Eye Abnormalities - genetics | Mice, Knockout | Intellectual Disability - physiopathology | Phenotype | Animals | Metabolic Networks and Pathways | Adolescent | Eye Abnormalities - physiopathology | Mice | Mutation | Ubiquitin-Protein Ligases - genetics | Tricarboxylic acid cycle | Growth rate | Intellectual disabilities | Liver | Chain branching | Cortex (somatosensory) | Neurodevelopmental disorders | Mitochondria | Pathways | Metabolites | Grip strength | Ubiquitin-protein ligase | Hypoplasia | Muscles | Metabolism | Patients | Substrates | Corpus callosum | Skeletal muscle | Hereditary diseases | Morphology | Speech | Metabolic pathways | Electron transport | Synapses | Biological Sciences
Journal Article
Osteoporosis international, ISSN 1433-2965, 2018, Volume 30, Issue 3, pp. 685 - 689
Raine syndrome is characterized by FGF23-mediated hypophosphatemic osteomalacia with osteosclerosis caused by mutations in the FAM20C gene. We report a case of... 
High bone mass | Medicine & Public Health | Orthopedics | Rheumatology | FAM20C | Osteomalacia | Endocrinology | Raine syndrome | TRANSIENT OSTEOPOROSIS | ENDOCRINOLOGY & METABOLISM | HIP | Microcephaly - genetics | Casein Kinase I - genetics | Humans | Male | Cleft Palate - genetics | Mutation, Missense | Osteonecrosis - diagnostic imaging | Osteonecrosis - genetics | Knee Joint - pathology | Exophthalmos - genetics | Microcephaly - physiopathology | Osteosclerosis - genetics | Cleft Palate - diagnostic imaging | Osteosclerosis - diagnostic imaging | Abnormalities, Multiple - genetics | Bone Density | Extracellular Matrix Proteins - genetics | Knee Joint - diagnostic imaging | Abnormalities, Multiple - diagnostic imaging | Exophthalmos - physiopathology | Cleft Palate - physiopathology | Exophthalmos - diagnostic imaging | Microcephaly - diagnostic imaging | Abnormalities, Multiple - physiopathology | Radiography | Magnetic Resonance Imaging | Aged | Osteosclerosis - physiopathology | Osteonecrosis - physiopathology | Gene mutations | Physiological aspects | Bones | Genetic aspects | Research | Risk factors | Necrosis | Knee | Dual energy X-ray absorptiometry | Radius | Phenotypes | Splicing | Fibroblast growth factor 23 | Spine (lumbar) | Case reports | Osteonecrosis | Bone turnover | Bone (trabecular) | Hip | Bone mass | Missense mutation | Computed tomography | Vitamin D | Tibia | Osteosclerosis | Hypophosphatemia | Mutation | Geriatrics
Journal Article
Journal Article