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science & technology (31) 31
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humans (29) 29
genetics & heredity (22) 22
female (20) 20
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proteins (3) 3
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general aspects. genetic counseling (2) 2
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genetics of eukaryotes. biological and molecular evolution (2) 2
hand deformities, congenital - genetics (2) 2
homeodomain proteins - genetics (2) 2
intellectual disability - pathology (2) 2
intellectual disability - physiopathology (2) 2
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1. Full Text Pallister-Killian syndrome: a study of 22 British patients
by Blyth, Moira and Maloney, Viv and Beal, Sarah and Collinson, Morag and Huang, Shuwen and Crolla, John and Temple, I Karen and Baralle, Diana
Journal of medical genetics, ISSN 0022-2593, 07/2015, Volume 52, Issue 7, pp. 454 - 464
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Chromosome Disorders - epidemiology | Chromosome Disorders - pathology | Humans | Intellectual Disability - pathology | In Situ Hybridization, Fluorescence | Tetrasomy - pathology | Intellectual Disability - genetics | Phenotype | Comparative Genomic Hybridization | Mosaicism | Tetrasomy - genetics | Chromosomes, Human, Pair 12 - genetics | United Kingdom - epidemiology | Abnormalities, Multiple - genetics | Chromosome Disorders - genetics | Pallister-Killian syndrome | Demographic aspects | Diagnosis | Studies | Medical research | Genotype & phenotype | Researchers | Laboratories | Intellectual disabilities | Cytogenetics | Chromosomes | Patients | Special education | Age | Index Medicus
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2. Full Text Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
by Hempel, Annmarie and Pagnamenta, Alistair T and Blyth, Moira and Mansour, Sahar and McConnell, Vivienne and Kou, Ikuyo and Ikegawa, Shiro and Tsurusaki, Yoshinori and Matsumoto, Naomichi and Lo-Castro, Adriana and Plessis, Ghislaine and Albrecht, Beate and Battaglia, Agatino and Taylor, Jenny C and Howard, Malcolm F and Keays, David and Sohal, Aman Singh and Kühl, Susanne J and Kini, Usha and McNeill, Alisdair and DDD Collaboration
Journal of medical genetics, ISSN 0022-2593, 03/2016, Volume 53, Issue 3, pp. 152 - 162
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Xenopus | Sequence Deletion | Face - abnormalities | Humans | Child, Preschool | Male | Neurodevelopmental Disorders - genetics | Microcephaly | Gene Knockdown Techniques | Intellectual Disability - genetics | Adult | Female | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Micrognathism - physiopathology | SOXC Transcription Factors - genetics | Micrognathism - genetics | Neurodevelopmental Disorders - physiopathology | Neck - abnormalities | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Animals | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Adolescent | Care and treatment | Gene mutations | Coffin-Siris syndrome | Influence | Nervous system | Degeneration | Research | Gene expression | Index Medicus | Developmental | Clinical genetics | Copy-number | Diagnostics tests | 1506 | Developmental Defects
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3. Full Text Enhancing inclusion of diverse populations in genomics: A competence framework
by Sharif, Saghira M and Blyth, Moira and Ahmed, Mushtaq and Sheridan, Eamonn and Saltus, Roiyah and Yu, Juping and Tonkin, Emma and Kirk, Maggie
Journal of genetic counseling, ISSN 1059-7700, 04/2020, Volume 29, Issue 2, pp. 282 - 292
genome sequencing | diversity | exome sequencing | underrepresented populations | cultural competence | practice models | Social Sciences | Life Sciences & Biomedicine | Social Sciences, Biomedical | Health Care Sciences & Services | Health Policy & Services | Genetics & Heredity | Biomedical Social Sciences | Science & Technology | Minority Groups | Rare Diseases - genetics | Cultural Competency | Ethnic Groups - genetics | Humans | Genome, Human | Precision Medicine | Medical personnel | Service provision | Genomics | Developmental disorders | Clinical research | Population studies | Minority groups | Multiculturalism & pluralism | Recruitment | Cultural competence | Rare diseases | Health status | Precision medicine | Technology | Capabilities | Ethnic groups | Index Medicus
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4. Full Text Homozygosity for a novel deletion downstream of the SHOX gene provides evidence for an additional long range regulatory region with a mild phenotypic effect
by Bunyan, David J and Taylor, Emma‐Jane and Maloney, Vivienne K and Blyth, Moira
American journal of medical genetics. Part A, ISSN 1552-4825, 11/2014, Volume 164, Issue 11, pp. 2764 - 2768
downstream deletion | SHOX | regulatory element | Downstream deletion | Regulatory element | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Sequence Deletion | Genetic Association Studies | Humans | Middle Aged | Regulatory Sequences, Nucleic Acid | Growth Disorders - diagnosis | In Situ Hybridization, Fluorescence | Osteochondrodysplasias - diagnosis | Homeodomain Proteins - genetics | Short Stature Homeobox Protein | Homozygote | Phenotype | Osteochondrodysplasias - genetics | Comparative Genomic Hybridization | Enhancer Elements, Genetic | Pedigree | Adult | Female | Aged | Consanguinity | Growth Disorders - genetics | Genes | Index Medicus
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5. Full Text Cerebral hypomyelination associated with biallelic variants of FIG4
by Lenk, Guy M and Berry, Ian R and Stutterd, Chloe A and Blyth, Moira and Green, Lydia and Vadlamani, Gayatri and Warren, Daniel and Craven, Ian and Fanjul‐Fernandez, Miriam and Rodriguez‐Casero, Victoria and Lockhart, Paul J and Vanderver, Adeline and Simons, Cas and Gibb, Susan and Sadedin, Simon and White, Susan M and Christodoulou, John and Skibina, Olga and Ruddle, Jonathan and Tan, Tiong Y and Leventer, Richard J and Livingston, John H and Meisler, Miriam H and Broad Ctr Mendelian Genomics and Broad Center for Mendelian Genomics
Human mutation, ISSN 1059-7794, 05/2019, Volume 40, Issue 5, pp. 619 - 630
VAC14 | PIKFYVE | CMT4J | endolysosome | oligodendrocyte | neurodegeneration | vacuolization, PtdIns(3,5)P2 | leukodystrophy | dysmyelination | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neuroimaging | Genetic Predisposition to Disease | Phosphoric Monoester Hydrolases - genetics | Genetic Association Studies | Demyelinating Diseases - genetics | Flavoproteins - genetics | Humans | Child, Preschool | Genotype | Male | Demyelinating Diseases - metabolism | Inheritance Patterns | Magnetic Resonance Imaging | Demyelinating Diseases - diagnosis | Phenotype | DNA Mutational Analysis | Pedigree | Alleles | Mutation | Child | Fibroblasts - metabolism | Family | Phosphatases | Myelination | Charcot-Marie-Tooth disease | Central nervous system | Fibroblasts | Children | Peripheral neuropathy | Substantia alba | Leukoencephalopathy | Vacuoles | Index Medicus | splice-site | vacuolization
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6. Full Text Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders
by Singh, Tarjinder and Kurki, Mitja I and Curtis, David and Purcell, Shaun M and Crooks, Lucy and McRae, Jeremy and Suvisaari, Jaana and Chheda, Himanshu and Blackwood, Douglas and Breen, Gerome and Pietilinen, Olli and Gerety, Sebastian S and Ayub, Muhammad and Blyth, Moira and Cole, Trevor and Collier, David and Coomber, Eve L and Craddock, Nick and Daly, Mark J and Danesh, John and DiForti, Marta and Foster, Alison and Freimer, Nelson B and Geschwind, Daniel and Johnstone, Mandy and Joss, Shelagh and Kirov, Georg and Körkkö, Jarmo and Kuismin, Outi and Holmans, Peter and Hultman, Christina M and Iyegbe, Conrad and Lönnqvist, Jouko and Mnnikkö, Minna and McCarroll, Steve A and McGuffin, Peter and McIntosh, Andrew M and McQuillin, Andrew and Moilanen, Jukka S and Moore, Carmel and Murray, Robin M and Newbury-Ecob, Ruth and Ouwehand, Willem and Paunio, Tiina and Prigmore, Elena and Rees, Elliott and Roberts, David and Sambrook, Jennifer and Sklar, Pamela and St Clair, David and Veijola, Juha and Walters, James T.R and Williams, Hywel and Sullivan, Patrick F and Hurles, Matthew E and O'Donovan, Michael C and Palotie, Aarno and Owen, Michael J and Barrett, Jeffrey C and INTERVAL Study and DDD Study and UK 10 K Consortium and Swedish Schizophrenia Study and UK10 K Consortium
Nature neuroscience, ISSN 1097-6256, 03/2016, Volume 19, Issue 4, pp. 571 - 577
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurodevelopmental Disorders - epidemiology | Genetic Predisposition to Disease - genetics | Histone-Lysine N-Methyltransferase - genetics | Humans | Genetic Association Studies - methods | Male | Neurodevelopmental Disorders - genetics | Schizophrenia - epidemiology | Case-Control Studies | Schizophrenia - genetics | Schizophrenia - diagnosis | Female | Genetic Variation - genetics | Genetic Predisposition to Disease - epidemiology | Finland - epidemiology | Cohort Studies | Neurodevelopmental Disorders - diagnosis | Genetic variation | Exome sequencing | Schizophrenia | Child development deviations | Genetic aspects | Identification and classification | Health aspects | Risk factors | Developmental disabilities | Methods | Index Medicus | Medicin och hälsovetenskap
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7. Full Text A Report of Novel STIM1 Deficiency and 6-Year Follow-Up of Two Previous Cases Associated with Mild Immunological Phenotype
by Rice, Laura and Stockdale, Claire and Berry, Ian and O’Riordan, Sean and Pysden, Karen and Anwar, Rashida and Rushambuza, Roger and Blyth, Moira and Srikanth, Sonal and Gwack, Yousang and El-Sherbiny, Yasser M and Carter, Clive and Savic, Sinisa
Journal of clinical immunology, ISSN 0271-9142, 4/2019, Volume 39, Issue 3, pp. 249 - 256
Medical Microbiology | Infectious Diseases | Internal Medicine | Biomedicine | Immunology | Life Sciences & Biomedicine | Science & Technology | Medical research | Medical colleges | Allergy | Medicine, Experimental | Reports | Genetic aspects | Allergic reaction | STIM1 protein | Phenotypes | Index Medicus
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8. Full Text Chromosome 22q12.1 microdeletions: Confirmation of the MN1 gene as a candidate gene for cleft palate
by Breckpot, Jeroen and Anderlid, Britt-Marie and Alanay, Yasemin and Blyth, Moira and Brahimi, Afane and Duban-Bedu, Bénédicte and Gozé, Odile and Firth, Helen and Yakicier, Mustafa Cengiz and Hens, Greet and Rayyan, Maissa and Legius, Eric and Vermeesch, Joris Robert and Devriendt, Koen
European journal of human genetics : EJHG, ISSN 1018-4813, 01/2016, Volume 24, Issue 1, pp. 51 - 58
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Agenesis of Corpus Callosum - diagnosis | Cleft Palate - diagnosis | Neuroma, Acoustic - diagnosis | Humans | Child, Preschool | Male | Cleft Palate - genetics | Tumor Suppressor Proteins - deficiency | Agenesis of Corpus Callosum - genetics | Tumor Suppressor Proteins - genetics | Female | Chromosomes, Human, Pair 22 | Child | Chromosome Deletion | Agenesis of Corpus Callosum - metabolism | Gene Expression | Chromosome Mapping | Sequence Analysis, DNA | Haploinsufficiency | Mice, Knockout | Animals | Neuroma, Acoustic - genetics | Adolescent | Cleft Palate - metabolism | Mice | Neuroma, Acoustic - metabolism | Vestibular nerVe | Phenotypes | Transcription factors | Congenital diseases | Leukemia | Schwann cells | Neurofibromin 2 | Chromosome deletion | Gene deletion | Corpus callosum | MN1 protein | Defects | Cleft lip/palate | Hospitals | Genetic counseling | Clonal deletion | Chromosome 22 | Genetics | Mutation | Vestibular system | Chromosomes | Index Medicus | Medicin och hälsovetenskap
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9. Full Text Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings
by Tooley, Madeleine and Lynch, Danielle and Bernier, Francois and Parboosingh, Jillian and Bhoj, Elizabeth and Zackai, Elaine and Calder, Alistair and Itasaki, Nobue and Wakeling, Emma and Scott, Richard and Lees, Melissa and Clayton‐Smith, Jill and Blyth, Moira and Morton, Jenny and Shears, Debbie and Kini, Usha and Homfray, Tessa and Clarke, Angus and Barnicoat, Angela and Wallis, Colin and Hewitson, Rebecca and Offiah, Amaka and Saunders, Michael and Langton‐Hewer, Simon and Hilliard, Tom and Davis, Peter and Smithson, Sarah
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2016, Volume 170, Issue 5, pp. 1115 - 1126
rib gaps | Pierre Robin syndrome | Cerebro–costo–mandibular syndrome | micrognathia | CCM syndrome | Micrognathia | Rib gaps | Cerebro-costo-mandibular syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Scoliosis - genetics | Spliceosomes - genetics | Exons | Ribs - physiopathology | Humans | Child, Preschool | Infant | Intellectual Disability - complications | Male | Cleft Palate - genetics | Intellectual Disability - genetics | Ribs - abnormalities | Scoliosis - physiopathology | Female | snRNP Core Proteins - genetics | Child | Abnormalities, Multiple - genetics | Micrognathism - physiopathology | Micrognathism - genetics | Cleft Palate - physiopathology | Abnormalities, Multiple - physiopathology | Micrognathism - complications | Intellectual Disability - physiopathology | Scoliosis - complications | Adolescent | Cleft Palate - complications | Mutation | Ribs - growth & development | Medicine, Experimental | Medical research | Index Medicus
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10. Full Text Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
by Akawi, Nadia and McRae, Jeremy and Ansari, Morad and Balasubramanian, Meena and Blyth, Moira and Brady, Angela F and Clayton, Stephen and Cole, Trevor and Deshpande, Charu and Fitzgerald, Tomas W and Foulds, Nicola and Francis, Richard and Gabriel, George and Gerety, Sebastian S and Goodship, Judith and Hobson, Emma and Jones, Wendy D and Joss, Shelagh and King, Daniel and Klena, Nikolai and Kumar, Ajith and Lees, Melissa and Lelliott, Chris and Lord, Jenny and McMullan, Dominic and O'Regan, Mary and Osio, Deborah and Piombo, Virginia and Prigmore, Elena and Rajan, Diana and Rosser, Elisabeth and Sifrim, Alejandro and Smith, Audrey and Swaminathan, Ganesh J and Turnpenny, Peter and Whitworth, James and Wright, Caroline F and Firth, Helen V and Barrett, Jeffrey C and Lo, Cecilia W and FitzPatrick, David R and Hurles, Matthew E and DDD Study and DDD study and the DDD study
Nature genetics, ISSN 1061-4036, 11/2015, Volume 47, Issue 11, pp. 1363 - 1369
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease - genetics | Humans | Genetic Association Studies - methods | Family Health | Genotype | Male | United Kingdom | Developmental Disabilities - genetics | Developmental Disabilities - classification | Genes, Recessive | Genetic Variation | Exome - genetics | Phenotype | Pedigree | Matrix Metalloproteinases, Secreted - genetics | Cell Cycle Proteins - genetics | Female | Protein-Arginine N-Methyltransferases - genetics | Ubiquitin-Protein Ligases - genetics | Sequence Analysis, DNA - methods | Disease susceptibility | Genetic aspects | Identification and classification | Familial diseases | Risk factors | Datasets | Mutation | Genes | Methods | Index Medicus
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