Articles

UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
science & technology (293) 293
life sciences & biomedicine (276) 276
humans (254) 254
male (191) 191
female (185) 185
genetics & heredity (175) 175
mutation (160) 160
genetic aspects (109) 109
genetics (107) 107
pedigree (96) 96
child (87) 87
adult (71) 71
biological and medical sciences (70) 70
research (70) 70
gene mutations (68) 68
medical sciences (64) 64
child, preschool (63) 63
animals (62) 62
phenotype (58) 58
molecular sequence data (57) 57
genes (56) 56
adolescent (55) 55
infant (53) 53
neurosciences & neurology (51) 51
amino acid sequence (50) 50
proteins (47) 47
clinical neurology (44) 44
dna mutational analysis (44) 44
middle aged (44) 44
neurosciences (44) 44
medical genetics (42) 42
mutation - genetics (42) 42
base sequence (40) 40
exome (39) 39
biochemistry & molecular biology (38) 38
abridged index medicus (37) 37
young adult (37) 37
life sciences (36) 36
fundamental and applied biological sciences. psychology (35) 35
genomes (35) 35
health aspects (33) 33
alleles (32) 32
intellectual disability - genetics (32) 32
medicin och hälsovetenskap (32) 32
physiological aspects (32) 32
risk factors (32) 32
analysis (31) 31
genetics of eukaryotes. biological and molecular evolution (31) 31
homozygote (30) 30
genomics (29) 29
mutation, missense (29) 29
exome - genetics (28) 28
mice (28) 28
neurology (28) 28
infant, newborn (27) 27
molecular and cellular biology (27) 27
sequence analysis, dna (27) 27
medical and health sciences (25) 25
polymorphism, single nucleotide (24) 24
gene expression (23) 23
genetic association studies (22) 22
genotype & phenotype (22) 22
metabolic diseases (22) 22
genetic disorders (21) 21
genetic predisposition to disease (21) 21
human genetics (21) 21
mitochondria (21) 21
diagnosis (20) 20
genotype (20) 20
heterozygote (20) 20
syndrome (20) 20
aged (19) 19
causes of (19) 19
endocrinology & metabolism (19) 19
general aspects. genetic counseling (19) 19
ophthalmology (19) 19
clinical medicine (18) 18
exons (18) 18
fibroblasts - metabolism (18) 18
genetic linkage (18) 18
genetic research (18) 18
genome-wide association study (18) 18
intellectual disabilities (18) 18
whole exome sequencing (18) 18
chromosomes (17) 17
genes, recessive (17) 17
klinisk medicin (17) 17
magnetic resonance imaging (17) 17
mitochondrial proteins - genetics (17) 17
multidisciplinary sciences (17) 17
phenotypes (17) 17
science & technology - other topics (17) 17
chromosome mapping (16) 16
gene deletion (16) 16
membrane proteins - genetics (16) 16
mitochondrial diseases - genetics (16) 16
patients (16) 16
rna, messenger - genetics (16) 16
sequence homology, amino acid (16) 16
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
by Rauch, Anita, Prof and Wieczorek, Dagmar, MD and Graf, Elisabeth, MSc and Wieland, Thomas, MSc and Endele, Sabine, PhD and Schwarzmayr, Thomas, MSc and Albrecht, Beate, MD and Bartholdi, Deborah, MD and Beygo, Jasmin, MSc and Di Donato, Nataliya, MD and Dufke, Andreas, MD and Cremer, Kirsten, MD and Hempel, Maja, MD and Horn, Denise, MD and Hoyer, Juliane, MD and Joset, Pascal, PhD and Röpke, Albrecht, PhD and Moog, Ute, MD and Riess, Angelika, MD and Thiel, Christian T, MD and Tzschach, Andreas, MD and Wiesener, Antje, MD and Wohlleber, Eva, MD and Zweier, Christiane, MD and Ekici, Arif B, PhD and Zink, Alexander M, MSc and Rump, Andreas, PhD and Meisinger, Christa, MD and Grallert, Harald, PhD and Sticht, Heinrich, PhD and Schenck, Annette, PhD and Engels, Hartmut, PhD and Rappold, Gudrun, Prof and Schröck, Evelin, Prof and Wieacker, Peter, Prof and Riess, Olaf, Prof and Meitinger, Thomas, Prof and Reis, André, Prof and Strom, Tim M, Dr
The Lancet (British edition), ISSN 0140-6736, 2012, Volume 380, Issue 9854, pp. 1674 - 1682
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | General aspects | Psychology. Psychoanalysis. Psychiatry | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Intellectual deficiency | Biological and medical sciences | Medical sciences | Exome - genetics | Humans | Female | Male | Mutation - genetics | Child | Case-Control Studies | Intellectual Disability - genetics | Intelligence levels | Gene mutations | Intellect | Genetic aspects | Mental illness | Health aspects | Risk factors | Studies | Genetics | Mutation | Mental retardation | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia
by Zech, Michael and Boesch, Sylvia and Maier, Esther M and Borggraefe, Ingo and Vill, Katharina and Laccone, Franco and Pilshofer, Veronika and Ceballos-Baumann, Andres and Alhaddad, Bader and Berutti, Riccardo and Poewe, Werner and Haack, Tobias B and Haslinger, Bernhard and Strom, Tim M and Winkelmann, Juliane
American journal of human genetics, ISSN 0002-9297, 12/2016, Volume 99, Issue 6, pp. 1377 - 1387
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haploinsufficiency - genetics | Dystonic Disorders - genetics | Histone-Lysine N-Methyltransferase - genetics | Humans | Male | Young Adult | Pedigree | Base Sequence | Adolescent | Age of Onset | Adult | Female | Lysine - metabolism | Child | Genetic aspects | Dystonia | Gene mutations | Methyltransferases | Health aspects | Genotype & phenotype | Chromatin | Mutation | Pathogenesis | Posture | Index Medicus | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text A Mutation in VPS35, Encoding a Subunit of the Retromer Complex, Causes Late-Onset Parkinson Disease
by Zimprich, Alexander and Benet-Pagès, Anna and Struhal, Walter and Graf, Elisabeth and Eck, Sebastian H and Offman, Marc N and Haubenberger, Dietrich and Spielberger, Sabine and Schulte, Eva C and Lichtner, Peter and Rossle, Shaila C and Klopp, Norman and Wolf, Elisabeth and Seppi, Klaus and Pirker, Walter and Presslauer, Stefan and Mollenhauer, Brit and Katzenschlager, Regina and Foki, Thomas and Hotzy, Christoph and Reinthaler, Eva and Harutyunyan, Ashot and Kralovics, Robert and Peters, Annette and Zimprich, Fritz and Brücke, Thomas and Poewe, Werner and Auff, Eduard and Trenkwalder, Claudia and Rost, Burkhard and Ransmayr, Gerhard and Winkelmann, Juliane and Meitinger, Thomas and Strom, Tim M
American journal of human genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 168 - 175
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Neurology | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Haplotypes | Endosomes - genetics | Vesicular Transport Proteins - metabolism | Humans | Middle Aged | Vesicular Transport Proteins - genetics | Male | Mutation, Missense | Parkinson Disease - genetics | Endosomes - metabolism | Genetic Variation | trans-Golgi Network - metabolism | Hydrogen Bonding | Pedigree | Age of Onset | Aged, 80 and over | Adult | Female | Protein Conformation | Aged | Parkinson Disease - metabolism | Cohort Studies | Parkinson's disease | Gene mutations | Distribution | Causes of | Austrians | Genetic aspects | Diagnosis | Research | Golgi apparatus | Genotype & phenotype | Mutation | Medical screening | Parkinsons disease | Index Medicus | Missense mutation | Genotyping | Neurodegenerative diseases | endosomes | Retrograde transport | Alzheimer's disease | Age | Movement disorders | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA
by Haack, Tobias B and Hogarth, Penelope and Kruer, Michael C and Gregory, Allison and Wieland, Thomas and Schwarzmayr, Thomas and Graf, Elisabeth and Sanford, Lynn and Meyer, Esther and Kara, Eleanna and Cuno, Stephan M and Harik, Sami I and Dandu, Vasuki H and Nardocci, Nardo and Zorzi, Giovanna and Dunaway, Todd and Tarnopolsky, Mark and Skinner, Steven and Frucht, Steven and Hanspal, Era and Schrander-Stumpel, Connie and Héron, Delphine and Mignot, Cyril and Garavaglia, Barbara and Bhatia, Kailash and Hardy, John and Strom, Tim M and Boddaert, Nathalie and Houlden, Henry H and Kurian, Manju A and Meitinger, Thomas and Prokisch, Holger and Hayflick, Susan J
American journal of human genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 1144 - 1149
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Amino Acid Sequence | Iron Overload - genetics | Humans | Molecular Sequence Data | Male | Brain - metabolism | Exome | Carrier Proteins - genetics | Magnetic Resonance Imaging | Phenotype | Genes, X-Linked | Base Sequence | Alleles | Brain - pathology | Female | High-Throughput Nucleotide Sequencing | Mutation | Gene Order | Iron Overload - diagnosis | Development and progression | Neurosciences | Genetic aspects | Dementia | Genotype & phenotype | Signal transduction | Genetic disorders | Nuclear magnetic resonance--NMR | Neurodegeneration | Autophagy | Index Medicus | Brain | Basal ganglia | Substantia nigra | X chromosome | Central nervous system diseases | Globus pallidus | Iron | X-chromosome inactivation | scaffolds | Magnetic resonance imaging | Dementia disorders | Mosaicism | Dystonia | Age | Movement disorders | Phagocytosis | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
by Ghezzi, Daniele and Baruffini, Enrico and Haack, Tobias B and Invernizzi, Federica and Melchionda, Laura and Dallabona, Cristina and Strom, Tim M and Parini, Rossella and Burlina, Alberto B and Meitinger, Thomas and Prokisch, Holger and Ferrero, Ileana and Zeviani, Massimo
American journal of human genetics, ISSN 0002-9297, 06/2012, Volume 90, Issue 6, pp. 1079 - 1087
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Cardiology. Vascular system | Heart | Medical genetics | Biological and medical sciences | Myocarditis. Cardiomyopathies | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cardiomyopathy, Hypertrophic - genetics | Phosphorylation | Saccharomyces cerevisiae - genetics | Acidosis, Lactic - genetics | Humans | Oxidative Phosphorylation | Molecular Sequence Data | RNA, Ribosomal - metabolism | Mitochondria - metabolism | Mutation, Missense | Mothers | Paromomycin - pharmacology | Carrier Proteins - genetics | Homozygote | Phenotype | DNA, Mitochondrial - genetics | DNA Mutational Analysis | Base Sequence | RNA, Transfer - genetics | Mutation | Nucleic Acid Conformation | Respiration | Fibroblasts - metabolism | Mitochondria | Cardiomyopathy, Hypertrophic | Gene mutations | Causes of | Genetic aspects | Research | Lactic acidosis | Genetic translation | Mitochondrial DNA | Transfer RNA | Genetics | Yeast | Cells | Index Medicus | Translation | tRNA | Cardiomyopathy | rRNA | Muscles | Stress | Missense mutation | Fibroblasts | Uridine | Electron transport | Siblings | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation
by Hartig, Monika B and Iuso, Arcangela and Haack, Tobias and Kmiec, Tomasz and Jurkiewicz, Elzbieta and Heim, Katharina and Roeber, Sigrun and Tarabin, Victoria and Dusi, Sabrina and Krajewska-Walasek, Malgorzata and Jozwiak, Sergiusz and Hempel, Maja and Winkelmann, Juliane and Elstner, Matthias and Oexle, Konrad and Klopstock, Thomas and Mueller-Felber, Wolfgang and Gasser, Thomas and Trenkwalder, Claudia and Tiranti, Valeria and Kretzschmar, Hans and Schmitz, Gerd and Strom, Tim M and Meitinger, Thomas and Prokisch, Holger
American journal of human genetics, ISSN 0002-9297, 2011, Volume 89, Issue 4, pp. 543 - 550
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acid Sequence | Humans | Child, Preschool | Molecular Sequence Data | Male | Neurodegenerative Diseases - genetics | Mitochondria - metabolism | Mitochondrial Proteins - genetics | Mutation, Missense | Iron - metabolism | Case-Control Studies | Brain - metabolism | Sequence Homology, Amino Acid | Homozygote | Pedigree | Adolescent | Cloning, Molecular | Adult | Female | Heterozygote | Mutation | Child | Cohort Studies | Proteins | Brain | Iron | Neurodegeneration | Index Medicus | Basal ganglia | Deposits | Neurodegenerative diseases | Antibodies | Neuropathy | Gene deletion | Lewy bodies | Membrane proteins | optic atrophy | Mitochondria | Missense mutation | Tau protein | Autopsy | spheroids | Movement disorders | Geriatrics | Pantothenate kinase
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation
by Dusi, Sabrina and Valletta, Lorella and Haack, Tobias B and Tsuchiya, Yugo and Venco, Paola and Pasqualato, Sebastiano and Goffrini, Paola and Tigano, Marco and Demchenko, Nikita and Wieland, Thomas and Schwarzmayr, Thomas and Strom, Tim M and Invernizzi, Federica and Garavaglia, Barbara and Gregory, Allison and Sanford, Lynn and Hamada, Jeffrey and Bettencourt, Conceição and Houlden, Henry and Chiapparini, Luisa and Zorzi, Giovanna and Kurian, Manju A and Nardocci, Nardo and Prokisch, Holger and Hayflick, Susan and Gout, Ivan and Tiranti, Valeria
American journal of human genetics, ISSN 0002-9297, 01/2014, Volume 94, Issue 1, pp. 11 - 22
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Mitochondria - enzymology | Phosphorylation | Saccharomyces cerevisiae - genetics | Humans | Gene Expression Regulation | Male | Mutation, Missense | Coenzyme A - metabolism | Iron - metabolism | Transferases - genetics | Nerve Degeneration - pathology | Brain - drug effects | Exome | Mitochondria - genetics | Escherichia coli - genetics | Pedigree | Cloning, Molecular | Pantetheine - analogs & derivatives | Brain - pathology | Female | Transferases - metabolism | Pantetheine - metabolism | Fibroblasts - metabolism | Brain | Gene mutations | Neurogenetics | Physiological aspects | Genetic aspects | Iron in the body | Research | Nucleotide sequencing | DNA sequencing | Neurodegeneration | Genomics | Iron | Biosynthesis | Mutation | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Mutations in the deubiquitinase gene USP8 cause Cushing's disease
by Reincke, Martin and Sbiera, Silviu and Hayakawa, Akira and Theodoropoulou, Marily and Osswald, Andrea and Beuschlein, Felix and Meitinger, Thomas and Mizuno-Yamasaki, Emi and Kawaguchi, Kohei and Saeki, Yasushi and Tanaka, Keiji and Wieland, Thomas and Graf, Elisabeth and Saeger, Wolfgang and Ronchi, Cristina L and Allolio, Bruno and Buchfelder, Michael and Strom, Tim M and Fassnacht, Martin and Komada, Masayuki
Nature genetics, ISSN 1061-4036, 01/2015, Volume 47, Issue 1, pp. 31 - 38
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Adenoma - genetics | Humans | Neoplasm Proteins - physiology | Gene Expression Regulation, Neoplastic | Cercopithecus aethiops | Endosomal Sorting Complexes Required for Transport - genetics | Molecular Sequence Data | Pituitary Neoplasms - complications | ACTH-Secreting Pituitary Adenoma - complications | Pituitary ACTH Hypersecretion - genetics | ACTH-Secreting Pituitary Adenoma - genetics | Receptor, Epidermal Growth Factor - metabolism | Pituitary Neoplasms - secretion | Neoplasm Proteins - genetics | Pro-Opiomelanocortin - genetics | Amino Acid Sequence | ACTH-Secreting Pituitary Adenoma - metabolism | Pituitary Neoplasms - genetics | Ubiquitin Thiolesterase - physiology | Pituitary Neoplasms - metabolism | Ubiquitin Thiolesterase - genetics | 14-3-3 Proteins - metabolism | Adrenocorticotropic Hormone - secretion | Sequence Homology, Amino Acid | Exome - genetics | Sequence Alignment | Animals | Endopeptidases - genetics | ACTH-Secreting Pituitary Adenoma - secretion | Pro-Opiomelanocortin - biosynthesis | Mutation | COS Cells | Endosomal Sorting Complexes Required for Transport - physiology | Endopeptidases - physiology | Gene mutations | Cushing syndrome | Physiological aspects | Genetic aspects | Research | Ubiquitin-proteasome system | Health aspects | Risk factors | Pituitary gland | Kinases | Rodents | Genes | Tumors | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Transcriptome and genome sequencing uncovers functional variation in humans
by Lappalainen, Tuuli and Sammeth, Michael and Friedländer, Marc R and 'T Hoen, Peter A. C and Monlong, Jean and Rivas, Manuel A and Gonzàlez-Porta, Mar and Kurbatova, Natalja and Griebel, Thasso and Ferreira, Pedro G and Barann, Matthias and Wieland, Thomas and Greger, Liliana and Van Iterson, Maarten and Almlöf, Jonas and Ribeca, Paolo and Pulyakhina, Irina and Esser, Daniela and Giger, Thomas and Tikhonov, Andrew and Sultan, Marc and Bertier, Gabrielle and Macarthur, Daniel G and Lek, Monkol and Lizano, Esther and Buermans, Henk P. J and Padioleau, Ismael and Schwarzmayr, Thomas and Karlberg, Olof and Ongen, Halit and Kilpinen, Helena and Beltran, Sergi and Gut, Marta and Kahlem, Katja and Amstislavskiy, Vyacheslav and Stegle, Oliver and Pirinen, Matti and Montgomery, Stephen B and Donnelly, Peter and McCarthy, Mark I and Flicek, Paul and Strom, Tim M and Lehrach, Hans and Schreiber, Stefan and Sudbrak, Ralf and Carracedo, Ángel and Antonarakis, Stylianos E and Häsler, Robert and Syvänen, Ann-Christine and Van Ommen, Gert-Jan and Brazma, Alvis and Meitinger, Thomas and Rosenstiel, Philip and Guigó, Roderic and Gut, Ivo G and Estivill, Xavier and Dermitzakis, Emmanouil T and Geuvadis Consortium and The Geuvadis Consortium
Nature (London), ISSN 0028-0836, 2013, Volume 501, Issue 7468, pp. 506 - 511
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Humans | RNA, Messenger - genetics | RNA, Messenger - analysis | Exons - genetics | Gene Expression Profiling | Transcriptome - genetics | Genome, Human - genetics | Sequence Analysis, RNA | Alleles | Polymorphism, Single Nucleotide - genetics | Genetic Variation - genetics | High-Throughput Nucleotide Sequencing | Cell Line, Transformed | Quantitative Trait Loci - genetics | Studies | Population | Genomes | Gene expression | Genomics | Quality control | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights