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Nature (London), ISSN 0028-0836, 02/2017, Volume 542, Issue 7642, pp. 433 - 438
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | Index Medicus | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
Nature genetics, ISSN 1061-4036, 01/2019, Volume 51, Issue 1, pp. 106 - 116
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Autistic Disorder - genetics | Humans | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | DNA Copy Number Variations - genetics | Developmental Disabilities - genetics | Neurodevelopmental Disorders - genetics | Mutation - genetics | Intellectual Disability - genetics | Exome - genetics | Phenotype | Animals | Chromosome Aberrations | Polymorphism, Single Nucleotide - genetics | Mice | Intracellular Signaling Peptides and Proteins - genetics | Gene mutations | Copy number variations | Analysis | Nervous system | Degeneration | Genetic aspects | Research | Morbidity | Neurosciences | Intellectual disabilities | Copy number | Genes | Disorders | Likelihood ratio | Genomes | Gene deletion | Neurodevelopmental disorders | Spiny neurons | Autism | Missense mutation | Clonal deletion | Reproduction (copying) | Neostriatum | Gene duplication | Mutation | Chromosome 16 | Index Medicus | TRIO | MYT1L | HNRNPU | EHMT1 | ENO3 | CAPN15 | SUV420H1 | PPP1CB | EFTUD2 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SOX5 | MAP2K1 | MEF2C | CSNK2A1 | TMEM178A | DYRK1A | CASK | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | HECW2 | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | Genetics of Developmental Delay | DLX3 | SET | KMT2A | SRCAP | ANP32A | STXBP1 | CUL3 | FOXG1 | ANKRD11 | ITPR1 | de novo Mutation | HIVEP3 | SNX5 | ZBTB18 | CREBBP | IQSEC2 | BCL11A | NONO | UPF3B | BRAF | ADAP1 | GRIN2B | SMARCA2 | SMARCA4 | MED13L | GNAO1 | AGO4 | DLG4 | CAPRIN1 | Neurodevelopmental Disorders | TCF4 | CDK13 | SCN2A | GABRB2 | KDM5B | SETD5 | DDX3X | CHD8 | PTEN | TCF20 | CTCF | CHD3 | CHD2 | WDR45 | SLC6A1 | MECP2 | SNAPC5 | SYNCRIP | TLK2 | CHAMP1 | KIF1A | RAC1 | TNPO2 | DNMT3A | MSL3 | PPP2R5D | ASH1L | SMC1A | ARID1B | CNKSR2 | PACS2 | SETBP1 | PIK3CA | PACS1 | WAC | ZMYND11 | SHANK3 | AHDC1 | SMARCD1 | WDR26 | NFIX | SATB2 | KIAA2022 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | LEO1 | DYNC1H1 | MBD5 | NAA10 | USP9X | PTPN11 | MEIS2 | GATAD2B | KANSL1 | ASXL3 | CTNNB1 | TRIP12 | QRICH1 | NAA15 | TAF1
Journal Article
Epilepsia (Copenhagen), ISSN 0013-9580, 02/2018, Volume 59, Issue 2, pp. 389 - 402
epilepsy | MAE | epilepsy genetics | SLC6A1 | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Epilepsy, Generalized - genetics | Epilepsies, Partial - drug therapy | Humans | Child, Preschool | Intellectual Disability - complications | Male | Electroencephalography | Neurodevelopmental Disorders - genetics | Epilepsy, Generalized - complications | Mutation, Missense | Epilepsies, Partial - physiopathology | Intellectual Disability - genetics | Young Adult | Adult | Female | Valproic Acid - therapeutic use | Language Development Disorders - physiopathology | Ataxia - genetics | Child | Epilepsies, Myoclonic - genetics | Epilepsies, Partial - complications | Ataxia - physiopathology | Genetic Association Studies | Language Development Disorders - genetics | Neurodevelopmental Disorders - complications | Anticonvulsants - therapeutic use | Epilepsies, Myoclonic - physiopathology | Treatment Outcome | Epilepsies, Myoclonic - complications | Language Development Disorders - complications | Intellectual Disability - physiopathology | GABA Plasma Membrane Transport Proteins - genetics | Phenotype | Epilepsy, Generalized - physiopathology | Epilepsy, Generalized - drug therapy | Adolescent | Ataxia - complications | Epilepsies, Myoclonic - drug therapy | Epilepsies, Partial - genetics | Mutation | Cohort Studies | Medical research | Divalproex | Epilepsy | Medicine, Experimental | Genetic aspects | Seizures (Medicine) | Valproic acid | Phenotypes | Convulsions & seizures | Sleep | Language | EEG | Cognitive ability | Speech | Ataxia | Seizures | Index Medicus | Life Sciences | Genetics | Human genetics
Journal Article
Pediatric neurology, ISSN 0887-8994, 2016, Volume 64, pp. 77 - 79
Pediatrics | Neurology | Doose syndrome | ketosis | epilepsy with myoclonic-atonic seizures | ketogenic diet | GABA | myoclonic-astatic epilepsy | SLC6A1 | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | GABA Plasma Membrane Transport Proteins - genetics | Diet, Ketogenic | Epilepsies, Myoclonic - diet therapy | Humans | Models, Molecular | Female | Mutation | Child | Epilepsies, Myoclonic - genetics | Medical colleges | Genetic aspects | Seizures (Medicine) | Analysis | Epilepsy | Index Medicus
Journal Article
Cancer biology & therapy, ISSN 1538-4047, 04/2018, Volume 19, Issue 4, pp. 282 - 291
miR-200c-3p | migration | survival rate | clear cell renal cell carcinoma | invasion | SLC6A1 | Life Sciences & Biomedicine | Oncology | Science & Technology | Kidney Neoplasms - genetics | Prognosis | Kidney - pathology | Humans | Middle Aged | Gene Expression Regulation, Neoplastic | Carcinoma, Renal Cell - genetics | Male | MicroRNAs - metabolism | Cell Movement - genetics | GABA Plasma Membrane Transport Proteins - metabolism | HEK293 Cells | Adult | Female | Cell Proliferation - genetics | Specific Pathogen-Free Organisms | Carcinoma, Renal Cell - pathology | Down-Regulation | Kaplan-Meier Estimate | Kidney Neoplasms - mortality | Xenograft Model Antitumor Assays | Carcinoma, Renal Cell - mortality | GABA Plasma Membrane Transport Proteins - genetics | Animals | Mice, Nude | Cell Line, Tumor | Kidney Neoplasms - pathology | Aged | Neoplasm Invasiveness - genetics | Index Medicus
Journal Article
BMC medical genetics, ISSN 1471-2350, 05/2020, Volume 21, Issue 1, pp. 93 - 93
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Proteins | Epilepsy | Aortic valve stenosis | Genes | Genomics | Myopia | Attention-deficit hyperactivity disorder | Development and progression | Nucleotide sequencing | DNA sequencing | Phenotypes | Language disorders | Intellectual disabilities | Eye contact | Attention deficit hyperactivity disorder | Stenosis | Families & family life | Genomes | Patients | Convulsions & seizures | Language | Maternal & child health | Aorta | Software | Behavior | Mutation | Aortic valve | Grandparents | Age | Aggressiveness | Index Medicus | High myopia | NOTCH1 | Myoclonic-atonic epilepsy | SLC6A1 | Whole-exome sequencing | PRIMPOL
Journal Article
Epilepsia open, ISSN 2470-9239, 09/2020, Volume 5, Issue 3, pp. 442 - 450
Journal Article
Progress in neuro-psychopharmacology & biological psychiatry, ISSN 0278-5846, 07/2017, Volume 77, pp. 202 - 208
SLC6A1 gene | Attention-deficit/hyperactivity disorder | Genetic variants | Gene-environment interaction | Neurosciences | Clinical Neurology | Life Sciences & Biomedicine | Pharmacology & Pharmacy | Neurosciences & Neurology | Psychiatry | Science & Technology | Attention Deficit Disorder with Hyperactivity - blood | Genetic Predisposition to Disease - genetics | Humans | Genotype | Male | Gene-Environment Interaction | Case-Control Studies | GABA Plasma Membrane Transport Proteins - genetics | Attention Deficit Disorder with Hyperactivity - genetics | Lead - blood | Female | Polymorphism, Single Nucleotide | Child | Quantitative Trait Loci - genetics | Quantitative genetics | Medical research | Analysis | Genes | Attention-deficit hyperactivity disorder | Genetic research | Medicine, Experimental | Disease susceptibility | Genetic aspects | Single nucleotide polymorphisms | Gene expression | Epidemiology | Anopheles | Public health | Index Medicus
Journal Article
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Mild phenotype associated with SLC6A1 gene mutation: A case report with literature review
Journal of pediatric neurosciences, ISSN 1817-1745, 4/2019, Volume 14, Issue 2, pp. 100 - 102
SLC6A1 gene | Absence seizures | myoclonic-atonic epilepsy | autism | intellectual disability | Gene mutations | Epilepsy | Genes | GABA | Genetic aspects | Learning disabilities | Electroencephalography | Seizures (Medicine) | Genotype & phenotype | Convulsions & seizures | Genetic counseling | Acids | Intellectual disabilities | Mutation | Case Report
Journal Article