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1. Full Text Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders
by Nava, Caroline and Keren, Boris and Mignot, Cyril and Rastetter, Agnès and Chantot-Bastaraud, Sandra and Faudet, Anne and Fonteneau, Eric and Amiet, Claire and Laurent, Claudine and Jacquette, Aurélia and Whalen, Sandra and Afenjar, Alexandra and Périsse, Didier and Doummar, Diane and Dorison, Nathalie and Leboyer, Marion and Siffroi, Jean-Pierre and Cohen, David and Brice, Alexis and Héron, Delphine and Depienne, Christel
European journal of human genetics : EJHG, ISSN 1018-4813, 2014, Volume 22, Issue 1, pp. 71 - 78
autism spectrum disorders | copy number variants | autosomal recessive inheritance | genetic interactions | 15q11-q12 triplication | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Genetic Association Studies | Child Development Disorders, Pervasive - pathology | Oligonucleotide Array Sequence Analysis - methods | Humans | Child, Preschool | Child Development Disorders, Pervasive - etiology | Genotype | Infant | Male | DNA Copy Number Variations - genetics | DNA Methylation - genetics | Chromosomes, Human, Pair 15 - genetics | Cri-du-Chat Syndrome - genetics | Trisomy - genetics | Comparative Genomic Hybridization | Child Development Disorders, Pervasive - genetics | Adolescent | Polymorphism, Single Nucleotide - genetics | Female | Child | Chromosomes, Human, Pair 5 - genetics | Copy number | Genes | Schizophrenia | Genomes | Chromosome deletion | Single-nucleotide polymorphism | Gene deletion | Streptococcus infections | Proteins | Autism | DNA microarrays | Clonal deletion | Chromosome 9 | Genetics | Chromosome 15 | Chromosomes | Index Medicus | 15q11–q12 triplication
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2. Full Text Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
by Milh, Mathieu and Boutry-Kryza, Nadia and Sutera-Sardo, Julie and Mignot, Cyril and Auvin, Stéphane and Lacoste, Caroline and Villeneuve, Nathalie and Roubertie, Agathe and Heron, Bénédicte and Carneiro, Maryline and Kaminska, Anna and Altuzarra, Cécilia and Blanchard, Gaëlle and Ville, Dorothée and Barthez, Marie Anne and Heron, Delphine and Gras, Domitille and Afenjar, Alexandra and Dorison, Nathalie and Doummar, Dianne and Billette De Villemeur, Thierry and An, Isabelle and Jacquette, Aurélia and Charles, Perrine and Perrier, Julie and Isidor, Bertrand and Vercueil, Laurent and Chabrol, Brigitte and Badens, Catherine and Lesca, Gaétan and Villard, Laurent
Orphanet journal of rare diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 80 - 80
Genetics | Encephalopathy | Epilepsy | KCNQ2 | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Brain - diagnostic imaging | Genetic Predisposition to Disease | Epilepsy, Benign Neonatal - diagnosis | Humans | Infant | Male | Electroencephalography | Epilepsy, Benign Neonatal - pathology | Radiography | Magnetic Resonance Imaging | Phenotype | Epilepsy, Benign Neonatal - genetics | KCNQ2 Potassium Channel - genetics | Epilepsy - genetics | Female | Mutation | Infants (Newborn) | Medicine, Experimental | Medical research | Gene mutations | Index Medicus | Life Sciences
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3. Full Text Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
by Heide, Solveig, MD and Keren, Boris, MD, PhD and Billette de Villemeur, Thierry, MD, PhD and Chantot-Bastaraud, Sandra, MD and Depienne, Christel, PhD and Nava, Caroline, MD, PhD and Mignot, Cyril, MD, PhD and Jacquette, Aurélia, MD and Fonteneau, Eric and Lejeune, Elodie and Mach, Corinne and Marey, Isabelle, MD and Whalen, Sandra, MD and Lacombe, Didier, MD, PhD and Naudion, Sophie, MD and Rooryck, Caroline, MD, PhD and Toutain, Annick, MD, PhD and Caignec, Cédric Le, MD, PhD and Haye, Damien, MD and Olivier-Faivre, Laurence, MD, PhD and Masurel-Paulet, Alice, MD and Thauvin-Robinet, Christel, MD, PhD and Lesne, Fabien, CRA and Faudet, Anne, CRA and Ville, Dorothée, MD and des Portes, Vincent, MD, PhD and Sanlaville, Damien, MD, PhD and Siffroi, Jean-Pierre, MD, PhD and Moutard, Marie-Laure, MD and Héron, Delphine, MD
The Journal of pediatrics, ISSN 0022-3476, 2017, Volume 185, pp. 160 - 166.e1
Pediatrics | chromosomal microarray | CNV | corpus callosum | SNP array | agenesis of corpus callosum | dysgenesis of corpus callosum | Life Sciences & Biomedicine | Science & Technology | Prospective Studies | Chromosome Duplication | Humans | Child, Preschool | Male | Zinc Finger E-box-Binding Homeobox 1 - genetics | DNA Copy Number Variations | Intellectual Disability - genetics | Young Adult | Chromosomes, Human, Pair 3 | Hedgehog Proteins - genetics | Microarray Analysis | Agenesis of Corpus Callosum - genetics | Cell Cycle Proteins - genetics | Adult | Female | Child | Chromosome Deletion | Basic Helix-Loop-Helix Transcription Factors - genetics | Chromosomes, Human, Pair 8 | Chromosomes, Human, Pair 7 | Chromosomes, Human, Pair 19 | Adolescent | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 10 | Analysis | Resveratrol | Index Medicus | Abridged Index Medicus | Life Sciences | Genetics
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4. Full Text 29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype
by Monin, Marie-Lorraine and Mignot, Cyril and De Lonlay, Pascale and Héron, Bénédicte and Masurel, Alice and Mathieu-Dramard, Michèle and Lenaerts, Catherine and Thauvin, Christel and Gérard, Marion and Roze, Emmanuel and Jacquette, Aurélia and Charles, Perrine and de Baracé, Claire and Drouin-Garraud, Valérie and Khau Van Kien, Philippe and Cormier-Daire, Valérie and Mayer, Michèle and Ogier, Hélène and Brice, Alexis and Seta, Nathalie and Héron, Delphine
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, pp. 207 - 207
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | France - epidemiology | Phosphotransferases (Phosphomutases) - genetics | Humans | Middle Aged | Male | Young Adult | Phenotype | Adolescent | Age of Onset | Adult | Female | Retrospective Studies | Congenital Disorders of Glycosylation - epidemiology | Phosphotransferases (Phosphomutases) - deficiency | Congenital Disorders of Glycosylation - genetics | Cohort Studies | Congenital Disorders of Glycosylation - diagnosis | Genotype & phenotype | Walking | Congenital diseases | Child development | Consent | Mortality | Ataxia | Thrombosis | Patients | Metabolic disorders | Age | Blood | Index Medicus | Life Sciences | Human health and pathology | Pediatrics | Genetics | Human genetics
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5. Full Text STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients
by Mignot, Cyril and Moutard, Marie‐Laure and Trouillard, Oriane and Gourfinkel‐An, Isabelle and Jacquette, Aurélia and Arveiler, Benoit and Morice‐Picard, Fanny and Lacombe, Didier and Chiron, Catherine and Ville, Dorothée and Charles, Perrine and LeGuern, Eric and Depienne, Christel and Héron, Delphine
Epilepsia (Copenhagen), ISSN 0013-9580, 10/2011, Volume 52, Issue 10, pp. 1820 - 1827
Epileptic encephalopathy | Infantile spasms | Tremor | STXBP1 | Haploinsufficiency | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Munc18 Proteins - genetics | Spasms, Infantile - physiopathology | Oligonucleotide Array Sequence Analysis | Brain - physiopathology | Humans | Anticonvulsants - therapeutic use | Infant | Electroencephalography | Tremor - complications | Spasms, Infantile - genetics | Tremor - physiopathology | Mutagenesis, Insertional - genetics | Spasms, Infantile - drug therapy | Tremor - genetics | Polymorphism, Single Nucleotide - genetics | Female | Heterozygote | Spasms, Infantile - complications | Codon | Encephalopathy | Epilepsy | Genes | Cytogenetics | Seizures (Medicine) | Diagnosis | Convulsions & seizures | Nuclear magnetic resonance--NMR | Mutation | Patients | Index Medicus | Neuroimaging | Brain | tremor | Nonsense mutation | Insertion | Infants | Antiepileptic agents | Gene deletion | Magnetic resonance imaging | genomics | Seizures
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6. Full Text Mutation spectrum in the large GTPase dynamin 2, and genotype–phenotype correlation in autosomal dominant centronuclear myopathy
by Böhm, Johann and Biancalana, Valérie and DeChene, Elizabeth T and Bitoun, Marc and Pierson, Christopher R and Schaefer, Elise and Karasoy, Hatice and Dempsey, Melissa A and Klein, Fabrice and Dondaine, Nicolas and Kretz, Christine and Haumesser, Nicolas and Poirson, Claire and Toussaint, Anne and Greenleaf, Rebecca S and Barger, Melissa A and Mahoney, Lane J and Kang, Peter B and Zanoteli, Edmar and Vissing, John and Witting, Nanna and Echaniz‐Laguna, Andoni and Wallgren‐Pettersson, Carina and Dowling, James and Merlini, Luciano and Oldfors, Anders and Bomme Ousager, Lilian and Melki, Judith and Krause, Amanda and Jern, Christina and Oliveira, Acary S. B and Petit, Florence and Jacquette, Aurélia and Chaussenot, Annabelle and Mowat, David and Leheup, Bruno and Cristofano, Michele and Poza Aldea, Juan José and Michel, Fabrice and Furby, Alain and Llona, Jose E. Barcena and Van Coster, Rudy and Bertini, Enrico and Urtizberea, Jon Andoni and Drouin‐Garraud, Valérie and Béroud, Christophe and Prudhon, Bernard and Bedford, Melanie and Mathews, Katherine and Erby, Lori A. H and Smith, Stephen A and Roggenbuck, Jennifer and Crowe, Carol A and Brennan Spitale, Allison and Johal, Sheila C and Amato, Anthony A and Demmer, Laurie A and Jonas, Jessica and Darras, Basil T and Bird, Thomas D and Laurino, Mercy and Welt, Selman I and Trotter, Cynthia and Guicheney, Pascale and Das, Soma and Mandel, Jean‐Louis and Beggs, Alan H and Laporte, Jocelyn and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Pathology and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy and Institutionen för biomedicin, avdelningen för patologi and Sahlgrenska akademin
Human mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 949 - 959
HMSNII | RYR1 | hereditary motor and sensory neuropathy type II | DI‐CMTB | ADCNM | DNM2 | MTM1 | centronuclear myopathy | CMT2M | CMTD1B | myotubular myopathy | BIN1 | endocytosis | Charcot–Marie–Tooth neuropathy | congenital myopathy | Hereditary motor and sensory neuropathy type II | Congenital myopathy | Di-CMTB | Endocytosis | Myotubular myopathy | Charcot-marie-tooth neuropathy | Centronuclear myopathy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Sequence Alignment | Dynamin II - chemistry | Genes, Dominant | Genetic Association Studies | Humans | Dynamin II - genetics | Molecular Sequence Data | Myopathies, Structural, Congenital - diagnosis | Myopathies, Structural, Congenital - genetics | Mutation | Polymorphism, Genetic | Index Medicus | Life Sciences | Biochemistry, Molecular Biology | Computer Science | Genetics | Molecular biology | Bioinformatics | Human genetics | DI-CMTB | chemistry | Dynamin II | Congenital | Genes | Structural | Genetic | diagnosis | Myopathies | Klinisk medicin | Clinical Medicine | genetics | Dominant | Polymorphism
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7. Full Text Recurrent mutations in the CDKL5 gene: Genotype–phenotype relationships
by Bahi‐Buisson, Nadia and Villeneuve, Nathalie and Caietta, Emilie and Jacquette, Aurélia and Maurey, Helene and Matthijs, Gert and Van Esch, Hilde and Delahaye, Andrée and Moncla, Anne and Milh, Mathieu and Zufferey, Flore and Diebold, Bertrand and Bienvenu, Thierry
American journal of medical genetics. Part A, ISSN 1552-4825, 07/2012, Volume 158A, Issue 7, pp. 1612 - 1619
epileptic encephalopathy | CDKL5 | Rett syndrome | Epileptic encephalopathy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy | Biological and medical sciences | Medical sciences | Nervous system (semeiology, syndromes) | Genetic Association Studies | Humans | Protein-Serine-Threonine Kinases - genetics | Infant | Spasms, Infantile - genetics | Intellectual Disability - genetics | Phenotype | Adenosine Triphosphate - metabolism | Female | Protein Interaction Domains and Motifs | Protein-Serine-Threonine Kinases - chemistry | Mutation | Rett Syndrome - genetics | Binding Sites | Infant, Newborn | X Chromosome Inactivation | Index Medicus | ATP
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8. Full Text Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders
by Nava, Caroline and Rupp, Johanna and Boissel, Jean-Paul and Mignot, Cyril and Rastetter, Agnès and Amiet, Claire and Jacquette, Aurélia and Dupuits, Céline and Bouteiller, Delphine and Keren, Boris and Ruberg, Merle and Faudet, Anne and Doummar, Diane and Philippe, Anne and Périsse, Didier and Laurent, Claudine and Lebrun, Nicolas and Guillemot, Vincent and Chelly, Jamel and Cohen, David and Héron, Delphine and Brice, Alexis and Closs, Ellen I and Depienne, Christel
Amino acids, ISSN 0939-4451, 12/2015, Volume 47, Issue 12, pp. 2647 - 2658
Life Sciences | Biochemistry, general | Cationic amino acid transporter | Autism spectrum disorders | Analytical Chemistry | Life Sciences, general | Oligogenism | Biochemical Engineering | Proteomics | Neurobiology | Exome sequencing | Chromosome X | Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Amino Acid Sequence | Autism Spectrum Disorder - genetics | Amino Acid Transport Systems, Basic - genetics | Biotinylation | Chromosomes, Human, X - genetics | Oocytes - metabolism | Gene Frequency | Humans | Molecular Conformation | Xenopus laevis | Molecular Sequence Data | Male | Mutation, Missense | Loss of Heterozygosity | Epilepsy - complications | Brain - metabolism | Phenotype | Animals | Pedigree | Epilepsy - genetics | Cell Membrane - metabolism | Mutation | Child | Autism | Amino acids | Analysis | Genomics | Index Medicus | Human | Cationic | Disorders | Males | Transporter | Patients | Genetics | Biomolecules | Biochemistry, Molecular Biology | Human genetics | Original
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9. Full Text Psychiatric and cognitive phenotype in children and adolescents with myotonic dystrophy
by Douniol, Marie and Jacquette, Aurélia and Guilé, Jean-Marc and Tanguy, Marie-Laure and Angeard, Nathalie and Héron, Delphine and Plaza, Monique and Cohen, David
European child & adolescent psychiatry, ISSN 1018-8827, 2009, Volume 18, Issue 12, pp. 705 - 715
Myotonic dystrophy type 1 | Cognitive profile | Juvenile form | Psychiatric phenotype | Pediatrics | Social Sciences | Life Sciences & Biomedicine | Psychology | Psychology, Developmental | Psychiatry | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Humans | Anxiety Disorders - diagnosis | Child, Preschool | Male | Intelligence - genetics | Intellectual Disability - genetics | Young Adult | Child Development Disorders, Pervasive - diagnosis | Myotonic Dystrophy - genetics | Female | Child | Depressive Disorder - genetics | Child Behavior Disorders - psychology | Child Behavior Disorders - diagnosis | Comorbidity | Self-Injurious Behavior - psychology | Depressive Disorder - diagnosis | Genotype | Anxiety Disorders - psychology | Self-Injurious Behavior - genetics | Phenotype | Attention Deficit Disorder with Hyperactivity - genetics | Child Development Disorders, Pervasive - psychology | Myotonic Dystrophy - psychology | Child Development Disorders, Pervasive - genetics | Intellectual Disability - diagnosis | Adolescent | Internal-External Control | Attention Deficit Disorder with Hyperactivity - psychology | Anxiety Disorders - genetics | Intellectual Disability - psychology | Child Behavior Disorders - genetics | Depressive Disorder - psychology | Genetic Carrier Screening | Neurosciences | Myotonic dystrophy | Analysis | Attention-deficit hyperactivity disorder | Genetic aspects | Learning disabilities | Anxiety | Index Medicus
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