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life sciences & biomedicine (35) 35
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chromosomes, human, pair 9 - genetics (3) 3
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dna mutational analysis (3) 3
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general aspects. genetic counseling (3) 3
genetic research (3) 3
genetics of eukaryotes. biological and molecular evolution (3) 3
mutation - genetics (3) 3
pregnancy (3) 3
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15q11.2 microdeletion (2) 2
19p13.3 deletions (2) 2
9q21.13 (2) 2
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abridged index medicus (2) 2
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amino acid sequence (2) 2
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diseases of striated muscles. neuromuscular diseases (2) 2
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1. Full Text ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia
by Fares-Taie, Lucas and Gerber, Sylvie and Chassaing, Nicolas and Clayton-Smith, Jill and Hanein, Sylvain and Silva, Eduardo and Serey, Margaux and Serre, Valérie and Gérard, Xavier and Baumann, Clarisse and Plessis, Ghislaine and Demeer, Bénédicte and Brétillon, Lionel and Bole, Christine and Nitschke, Patrick and Munnich, Arnold and Lyonnet, Stanislas and Calvas, Patrick and Kaplan, Josseline and Ragge, Nicola and Rozet, Jean-Michel
American journal of human genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 265 - 270
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Introns - genetics | Genes, Recessive - genetics | Microphthalmos - genetics | Humans | Aldehyde Dehydrogenase - genetics | Exons - genetics | Male | Mutant Proteins - metabolism | Anophthalmos - enzymology | Mutation - genetics | Sequence Analysis, DNA | Anophthalmos - genetics | Homozygote | Pedigree | HEK293 Cells | Microphthalmos - enzymology | Aldehyde Oxidoreductases | Female | Chromosome Segregation - genetics | Genetic Linkage | Gene mutations | Causes of | Diagnosis | Research | Nucleotide sequencing | Gene expression | Anophthalmos | DNA sequencing | Enzymes | Genetic aspects | Aldehydes | Medical genetics | Tretinoin | Amino acids | Mutation | Protein synthesis | Eyes & eyesight | Index Medicus | Eye | Heart | Missense mutation | Anophthalmia | Open reading frames | Gene mapping | Aldehyde dehydrogenase | Retinoic acid | Microphthalmia | Report
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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 Duplication of 10q24 locus: broadening the clinical and radiological spectrum
by Holder-Espinasse, Muriel and Jamsheer, Aleksander and Escande, Fabienne and Andrieux, Joris and Petit, Florence and Sowinska-Seidler, Anna and Socha, Magdalena and Jakubiuk-Tomaszuk, Anna and Gerard, Marion and Mathieu-Dramard, Michèle and Cormier-Daire, Valérie and Verloes, Alain and Toutain, Annick and Plessis, Ghislaine and Jonveaux, Philippe and Baumann, Clarisse and David, Albert and Farra, Chantal and Colin, Estelle and Jacquemont, Sébastien and Rossi, Annick and Mansour, Sahar and Ghali, Neeti and Moncla, Anne and Lahiri, Nayana and Hurst, Jane and Pollina, Elena and Patch, Christine and Ahn, Joo Wook and Valat, Anne-Sylvie and Mezel, Aurélie and Bourgeot, Philippe and Zhang, David and Manouvrier-Hanu, Sylvie
European journal of human genetics : EJHG, ISSN 1018-4813, 04/2019, Volume 27, Issue 4, pp. 525 - 534
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Limb Deformities, Congenital - genetics | Humans | Child, Preschool | Infant | Limb Deformities, Congenital - physiopathology | Male | Young Adult | Wnt Proteins - genetics | Adult | Female | Hand Deformities, Congenital - diagnostic imaging | Genetic Predisposition to Disease | Segmental Duplications, Genomic - genetics | Proto-Oncogene Proteins - genetics | Comparative Genomic Hybridization - methods | Proteasome Endopeptidase Complex - genetics | Radiography | Phenotype | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Pedigree | Limb Deformities, Congenital - diagnostic imaging | Chromosomes, Human, Pair 10 - genetics | Gene Rearrangement - genetics | F-Box Proteins - genetics | Neonates | Phenotypes | Dysplasia | Hydrocephalus | Gene regulation | Heredity | Chromosome 3 | Chromosome 2 | Hypogonadism | Corpus callosum | Morphogenesis | Aplasia | Dlx5 protein | Chromosome 10 | Chromosome 12 | Bone (long) | Skin | Index Medicus | Life Sciences | Genetics | Human genetics | Developmental biology | Clinical genetics | Review
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4. Full Text Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria
by Bahi-Buisson, Nadia and Represa, Alfonso and Buhler, Emmanuelle and Fallet-Bianco, Catherine and Poirier, Karine and Beldjord, Cherif and Phan-Dinh-Tuy, Françoise and Parent, Philippe and Jaglin, Xavier Hubert and Cardoso, Carlos and Bomont, Pascale and Plessis, Ghislaine and Keays, David Anthony and Tian, Guoling and Kossorotoff, Manoelle and Chelly, Jamel and Kong, Xiang Peng and Flint, Jonathan and Cowan, Nicholas Justin and Snoeck, Irina and Loget, Philippe and Saillour, Yoann and Castelnau-Ptakhine, Laëtitia and Odent, Sylvie
Nature genetics, ISSN 1061-4036, 06/2009, Volume 41, Issue 6, pp. 746 - 752
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Pia Mater - embryology | Pia Mater - abnormalities | Humans | Cerebral Cortex - pathology | Child, Preschool | Tubulin - genetics | Malformations of Cortical Development - genetics | Pia Mater - pathology | Fetal Diseases - genetics | Genetic Variation | Pregnancy | Cerebral Cortex - embryology | Adolescent | Lissencephaly - genetics | Adult | Female | Mutation | Malformations of Cortical Development - pathology | Cerebral Cortex - abnormalities | Amino Acid Substitution | Index Medicus | Life Sciences | Genetics | Development Biology | Neurons and Cognition
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5. Full Text Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
by Marneros, Alexander G and Beck, Anita E and Turner, Emily H and McMillin, Margaret J and Edwards, Matthew J and Field, Michael and de Macena Sobreira, Nara Lygia and Perez, Ana Beatriz A and Fortes, Jose A.R and Lampe, Anne K and Giovannucci Uzielli, Maria Luisa and Gordon, Christopher T and Plessis, Ghislaine and Le Merrer, Martine and Amiel, Jeanne and Reichenberger, Ernst and Shively, Kathryn M and Cerrato, Felecia and Labow, Brian I and Tabor, Holly K and Smith, Joshua D and Shendure, Jay and Nickerson, Deborah A and Bamshad, Michael J and the University of Washington Center for Mendelian Genomics and Univ Washington and University of Washington Center for Mendelian Genomics
American journal of human genetics, ISSN 0002-9297, 04/2013, Volume 92, Issue 4, pp. 621 - 626
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Abnormalities, Multiple - etiology | Ear, External - pathology | Humans | Nipples - abnormalities | Molecular Sequence Data | Male | Mutation, Missense - genetics | Muscle Hypotonia - etiology | Ectodermal Dysplasia - pathology | Female | Protein Structure, Tertiary | Amino Acid Sequence | Branchio-Oto-Renal Syndrome - etiology | Scalp - abnormalities | Repressor Proteins - genetics | Branchio-Oto-Renal Syndrome - pathology | Ectodermal Dysplasia - etiology | Nipples - pathology | Sequence Homology, Amino Acid | Ear, External - abnormalities | Muscle Hypotonia - pathology | Exome - genetics | Phenotype | Scalp - pathology | Hypospadias - etiology | Pedigree | Hypospadias - pathology | Care and treatment | Linkage (Genetics) | Gene mutations | Research | Nucleotide sequencing | Diagnosis | DNA sequencing | Ectodermal dysplasia | Learning disabilities | Genetic aspects | Analysis | Genomics | Genetic disorders | Mutation | Pathogenesis | Genetic linkage | Index Medicus | Report
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6. Full Text A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype
by Moncla, Anne and Missirian, Chantal and Cacciagli, Pierre and Balzamo, Eve and Legeai‐Mallet, Laurence and Jouve, Jean‐Luc and Chabrol, Brigitte and Le Merrer, Martine and Plessis, Ghislaine and Villard, Laurent and Philip, Nicole
Human mutation, ISSN 1059-7794, 12/2007, Volume 28, Issue 12, pp. 1183 - 1188
NPPC | translocation | CNP | overgrowth | Translocation | Overgrowth | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Translocation, Genetic | Growth Disorders - pathology | Humans | Gene Expression Regulation | Child, Preschool | In Situ Hybridization, Fluorescence | Male | Reverse Transcriptase Polymerase Chain Reaction | Chromosomes, Human, Pair 2 - genetics | Phenotype | Karyotyping | Natriuretic Peptide, C-Type - genetics | Chromosomes, Human, Pair 7 - genetics | Growth Disorders - genetics | Child | Chromosome Breakage | Index Medicus
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7. Full Text The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature
by Jean‐Marçais, Nolwenn and Decamp, Matthieu and Gérard, Marion and Ribault, Virginie and Andrieux, Joris and Kottler, Marie‐Laure and Plessis, Ghislaine
American journal of medical genetics. Part A, ISSN 1552-4825, 01/2015, Volume 167, Issue 1, pp. 185 - 189
HDAC4 | Albright hereditary osteodystrophy‐like syndrome | brachydactyly E | BDMR | brachydactyly | 2q37 deletion | intellectual disability | Intellectual disability | Albright hereditary osteodystrophy-like syndrome | Brachydactyly E | Brachydactyly | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Humans | Infant | Male | Brachydactyly - diagnostic imaging | Radiography | Chromosomes, Human, Pair 2 - genetics | Brachydactyly - genetics | Pedigree | Inheritance Patterns - genetics | Body Height | Family | Female | Bone and Bones - abnormalities | Genome, Human | Child | Infant, Newborn | Bones | Genetic aspects | Stature, Short | Abnormalities | Index Medicus
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8. Full Text Neurofibromatosis‐1 gene deletions and mutations in de novo adult acute myeloid leukemia
by Boudry‐Labis, Elise and Roche‐Lestienne, Catherine and Nibourel, Olivier and Boissel, Nicolas and Terre, Christine and Perot, Christine and Eclache, Virginie and Gachard, Nathalie and Tigaud, Isabelle and Plessis, Ghislaine and Cuccuini, Wendy and Geffroy, Sandrine and Villenet, Céline and Figeac, Martin and Leprêtre, Frederic and Renneville, Aline and Cheok, Meyling and Soulier, Jean and Dombret, Hervé and Preudhomme, Claude and French ALFA Grp and French ALFA group
American journal of hematology, ISSN 0361-8609, 04/2013, Volume 88, Issue 4, pp. 306 - 311
Life Sciences & Biomedicine | Hematology | Science & Technology | Gene Frequency | Humans | Middle Aged | In Situ Hybridization, Fluorescence | Male | Mutation Rate | Neurofibromin 1 - deficiency | Comparative Genomic Hybridization | Gene Deletion | Karyotyping | Adolescent | Alleles | Adult | Female | Aged | High-Throughput Nucleotide Sequencing | Neurofibromatosis 1 - genetics | Neurofibromin 1 - genetics | Real-Time Polymerase Chain Reaction | Leukemia, Myeloid, Acute - genetics | Analysis | Neurofibromatosis | Genes | Cytogenetics | Genetic research | Genetic aspects | Cancer | Index Medicus
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9. Full Text Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas
by Isidor, Bertrand and Bourdeaut, Franck and Lafon, Delfine and Plessis, Ghislaine and Lacaze, Elodie and Kannengiesser, Caroline and Rossignol, Sylvie and Pichon, Olivier and Briand, Annaig and Martin-Coignard, Dominique and Piccione, Maria and David, Albert and Delattre, Olivier and Jeanpierre, Cécile and Sévenet, Nicolas and Le Caignec, Cédric
European journal of human genetics : EJHG, ISSN 1018-4813, 07/2013, Volume 21, Issue 7, pp. 784 - 787
CNV | Perlman syndrome | Wilms' tumor | overgrowth | PTCH1 | FANCC nephroblastoma | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Chromosome Deletion | Kidney Neoplasms - genetics | Wilms Tumor - genetics | Humans | Fetal Macrosomia - genetics | Wilms Tumor - pathology | Pregnancy | Chromosomes, Human, Pair 9 - genetics | Comparative Genomic Hybridization | Adolescent | Adult | Female | Kidney Neoplasms - pathology | Mutation | Patched Receptors | Child | Fetal Macrosomia - pathology | Patched-1 Receptor | Receptors, Cell Surface - genetics | Kidneys | Nonsense mutation | Pathogenesis | Genes | Family medical history | Patients | Genetics | Tumorigenesis | Children | Methylation | Chromosomes | Deoxyribonucleic acid--DNA | Cancer | Index Medicus | Short Report
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10. Full Text Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
by Plaisancié, Julie and Bailleul‐Forestier, Isabelle and Gaston, Véronique and Vaysse, Fréderic and Lacombe, Didier and Holder‐Espinasse, Muriel and Abramowicz, Marc and Coubes, Christine and Plessis, Ghislaine and Faivre, Laurence and Demeer, Bénédicte and Vincent‐Delorme, Catherine and Dollfus, Hélène and Sigaudy, Sabine and Guillén‐Navarro, Encarna and Verloes, Alain and Jonveaux, Philippe and Martin‐Coignard, Dominique and Colin, Estelle and Bieth, Eric and Calvas, Patrick and Chassaing, Nicolas
American journal of medical genetics. Part A, ISSN 1552-4825, 04/2013, Volume 161, Issue 4, pp. 671 - 678
EDAR | ectodermal dysplasia | WNT10A | EDA | oligodontia | Oligodontia | Ectodermal dysplasia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Genetic Association Studies | Anodontia - complications | Humans | Molecular Sequence Data | Genotype | Male | Edar Receptor - genetics | Anodontia - genetics | Phenotype | Sequence Alignment | Wnt Proteins - genetics | Ectodermal Dysplasia - complications | Female | Ectodermal Dysplasia - genetics | Mutation | Invisibility | Genetic aspects | Index Medicus | Dysplasia
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11. Full Text 21q21 deletion involving NCAM2 : Report of 3 cases with neurodevelopmental disorders
by Petit, Florence and Plessis, Ghislaine and Decamp, Matthieu and Cuisset, Jean-Marie and Blyth, Moira and Pendlebury, Maria and Andrieux, Joris
European journal of medical genetics, ISSN 1769-7212, 2014, Volume 58, Issue 1, pp. 44 - 46
Medical Education | Chromosomal abnormalities | Array comparative genomic hybridization | NCAM2 | Developmental delay | 21q21 deletion | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Deletion | Humans | Neural Cell Adhesion Molecule L1 - genetics | Child, Preschool | Female | Male | Developmental Disabilities - genetics | Chromosomes, Human, Pair 21 - genetics | Child | Proteins | Genomics | Analysis | Index Medicus
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12. Full Text Clinical Comparison of Overlapping Deletions of 19p13.3
by Risheg, Hiba and Pasion, Romela and Sacharow, Stephanie and Proud, Virginia and Immken, LaDonna and Schwartz, Stuart and Tepperberg, Jim H and Papenhausen, Peter and Tan, Tiong Y and Andrieux, Joris and Plessis, Ghislaine and Amor, David J and Keitges, Elisabeth A
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2013, Volume 161, Issue 5, pp. 1110 - 1116
19p13.3 deletions | SNP microarray | copy number variants | Copy number variants | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | In Situ Hybridization, Fluorescence | Male | Developmental Disabilities - genetics | Intellectual Disability - genetics | Young Adult | Chromosomes, Human, Pair 19 - genetics | Microarray Analysis | Polymorphism, Single Nucleotide - genetics | Female | Child | Abnormalities, Multiple - genetics | Sequence Deletion - genetics | Index Medicus | Databases
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