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1. Full Text Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis
by Fingerlin, Tasha E and Murphy, Elissa and Zhang, Weiming and Peljto, Anna L and Brown, Kevin K and Steele, Mark P and Loyd, James E and Cosgrove, Gregory P and Lynch, David and Groshong, Steve and Collard, Harold R and Wolters, Paul J and Bradford, Williamson Z and Kossen, Karl and Seiwert, Scott D and Du Bois, Roland M and Garcia, Christine Kim and Devine, Megan S and Gudmundsson, Gunnar and Isaksson, Helgi J and Kaminski, Naftali and Zhang, Yingze and Gibson, Kevin F and Lancaster, Lisa H and Cogan, Joy D and Mason, Wendi R and Maher, Toby M and Molyneaux, Philip L and Wells, Athol U and Moffatt, Miriam F and Selman, Moises and Pardo, Annie and Kim, Dong Soon and Crapo, James D and Make, Barry J and Regan, Elizabeth A and Walek, Dinesha S and Daniel, Jerry J and Kamatani, Yoichiro and Zelenika, Diana and Smith, Keith and McKean, David and Pedersen, Brent S and Talbert, Janet and Kidd, Raven N and Markin, Cheryl R and Beckman, Kenneth B and Lathrop, Mark and Schwarz, Marvin I and Schwartz, David A
Nature genetics, ISSN 1061-4036, 06/2013, Volume 45, Issue 6, pp. 613 - 620
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Gene Expression | Genetic Predisposition to Disease | Genome-Wide Association Study | Idiopathic Pulmonary Fibrosis - genetics | Gene Frequency | Humans | Chromosomes, Human | Lung - metabolism | Polymorphism, Single Nucleotide | Genetic Loci | Sequence Analysis, DNA | Case-Control Studies | Pulmonary fibrosis | Physiological aspects | Genetic aspects | Disease susceptibility | Research | Diagnosis | Telomerase | Health aspects | Risk factors | Studies | Genetics | Lungs | Genes | Index Medicus
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2. Full Text Phenotype risk scores identify patients with unrecognized mendelian disease patterns
by Bastarache, Lisa and Hughey, Jacob J and Hebbring, Scott and Marlo, Joy and Zhao, Wanke and Ho, Wanting T and Van Driest, Sara L and McGregor, Tracy L and Mosley, Jonathan D and Wells, Quinn S and Temple, Michael and Ramirez, Andrea H and Carroll, Robert and Osterman, Travis and Edwards, Todd and Ruderfer, Douglas and Velez Edwards, Digna R and Hamid, Rizwan and Cogan, Joy and Glazer, Andrew and Wei, Wei-Qi and Feng, QiPing and Brilliant, Murray and Zhao, Zhizhuang J and Cox, Nancy J and Roden, Dan M and Denny, Joshua C
Science (American Association for the Advancement of Science), ISSN 0036-8075, 03/2018, Volume 359, Issue 6381, pp. 1233 - 1239
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Exome | Genetic Variation | Genetic Predisposition to Disease | Phenotype | Genetic Association Studies | DNA Mutational Analysis | Humans | Risk Factors | Genetic Diseases, Inborn - genetics | Databases, Genetic | Electronic Health Records | Genetic Diseases, Inborn - diagnosis | Subpopulations | Genetic variance | Genotype & phenotype | Phenotypes | Genetic disorders | Genetic analysis | Heredity | Patients | Electronic medical records | Diseases | Index Medicus
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3. Full Text Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Dis Network and Undiagnosed Diseases Network
Nature medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Cell Biology | Research & Experimental Medicine | Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Index Medicus
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4. Full Text A Novel Dyskerin ( DKC1 ) Mutation Is Associated With Familial Interstitial Pneumonia
by Kropski, Jonathan A., MD and Mitchell, Daphne B., MS and Markin, Cheryl, BS and Polosukhin, Vasiliy V., MD and Choi, Leena, PhD and Johnson, Joyce E., MD and Lawson, William E., MD and Phillips, John A., MD and Cogan, Joy D., PhD and Blackwell, Timothy S., MD and Loyd, James E., MD
Chest, ISSN 0012-3692, 2014, Volume 146, Issue 1, pp. e1 - e7
Pulmonary/Respiratory | Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Diagnosis, Differential | Lung Diseases, Interstitial - metabolism | Humans | Cell Cycle Proteins - metabolism | In Situ Hybridization, Fluorescence | Male | Nuclear Proteins - metabolism | Tomography, X-Ray Computed | DNA - genetics | Lung Diseases, Interstitial - diagnosis | Lung Diseases, Interstitial - genetics | Biopsy | Pedigree | Polymerase Chain Reaction | Cell Cycle Proteins - genetics | Aged | Mutation | Nuclear Proteins - genetics | Index Medicus | Abridged Index Medicus | Selected Reports | Online Exclusives
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5. Full Text The Y chromosome regulates BMPR2 expression via SRY: A possible reason "Why" fewer males develop pulmonary arterial hypertension
by Yan, Ling and Cogan, Joy D and Hedges, Lora K and Nunley, Bethany and Hamid, Rizwan and Austin, Eric D
American journal of respiratory and critical care medicine, ISSN 1073-449X, 12/2018, Volume 198, Issue 12, pp. 1581 - 1583
Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Sex-Determining Region Y Protein - genetics | Chromosomes, Human, Y | Bone Morphogenetic Protein Receptors, Type II - genetics | Humans | Sex Factors | Female | Hypertension, Pulmonary - genetics | Male | Transcription factors | Pathogenesis | Pulmonary arteries | Genomics | Smooth muscle | Gene expression | Males | Experiments | Pulmonary hypertension | Proteins | Fibroblasts | Protein expression | Mutation | Females | Chromosomes | Binding sites | Index Medicus | Abridged Index Medicus | Correspondence
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6. Full Text A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Genomics | Humans | Male | Developmental Disabilities - genetics | Sequence Analysis, DNA | Whole Exome Sequencing - methods | Whole Genome Sequencing | Developmental Disabilities - epidemiology | Exome - genetics | Phenotype | Female | Child | Developmental Disabilities - diagnosis | Bioinformatics | Index Medicus | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
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7. Full Text Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung disease
by Kropski, Jonathan A and Pritchett, Jason M and Zoz, Donald F and Crossno, Peter F and Markin, Cheryl and Garnett, Errine T and Degryse, Amber L and Mitchell, Daphne B and Polosukhin, Vasiliy V and Rickman, Otis B and Choi, Leena and Cheng, Dong-Sheng and McConaha, Melinda E and Jones, Brittany R and Gleaves, Linda A and McMahon, Frank B and Worrell, John A and Solus, Joseph F and Ware, Lorraine B and Lee, Jae Woo and Massion, Pierre P and Zaynagetdinov, Rinat and White, Eric S and Kurtis, Jonathan D and Johnson, Joyce E and Groshong, Steve D and Lancaster, Lisa H and Young, Lisa R and Steele, Mark P and Phillips, John A and Cogan, Joy D and Loyd, James E and Lawson, William E and Blackwell, Timothy S
American journal of respiratory and critical care medicine, ISSN 1073-449X, 02/2015, Volume 191, Issue 4, pp. 417 - 426
Bronchoscopy | Alveolar epithelial cell | Biomarker | Telomere | IPF | Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Lung Diseases, Interstitial - metabolism | Prospective Studies | Mucin-5B - genetics | Humans | Middle Aged | Bronchoalveolar Lavage | DNA, Viral - analysis | Male | Tomography, X-Ray Computed | Lung - diagnostic imaging | Asymptomatic Diseases | Case-Control Studies | Lung Diseases, Interstitial - virology | Lung - virology | Lung Diseases, Interstitial - diagnosis | Herpesviridae - genetics | Adult | Female | Lung - metabolism | Biomarkers - metabolism | Herpesviridae - isolation & purification | Lung - pathology | Gene Frequency | Genetic Markers | Polymorphism, Genetic | Phenotype | Lung Diseases, Interstitial - genetics | Biopsy | Aged | Index Medicus | Abridged Index Medicus | biomarker | Original | telomere | bronchoscopy | alveolar epithelial cell
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8. Full Text Resequencing Study Confirms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary Fibrosis
by Moore, Camille and Blumhagent, Rachel Z and Yang, Ivana and Walts, Avram and Powers, Julie and Walker, Tank and Bishop, Makenna and Russell, Pamela and Vestal, Brian and Cardwell, Jonathan and Markin, Cheryl R and Mathai, Susan K and Schwarz, Marvin and Steele, Mark P and Lee, Joyce and Brown, Kevin K and Loyd, James E and Crapo, James D and Silverman, Edwin K and Cho, Michael H and James, Judith A and Guthridge, Joel M and Cogan, Joy D and Kropski, Jonathan A and Swigris, Jeffrey J and Bair, Carol and Kim, Dong Soon and Ji, Wonjun and Kim, Hocheol and Song, Jin Woo and Maier, Lisa A and Pacheco, Karin A and Hirani, Nikhil and Poon, Azin S and Li, Feng and Jenkins, R. Gisli and Braybrooke, Rebecca and Saini, Gauri and Maher, Toby M and Molyneaux, Philip L and Saunders, Peter and Zhang, Yingze and Gibson, Kevin F and Kass, Daniel J and Rojas, Mauricio and Sembrat, John and Wolters, Paul J and Collard, Harold R and Sundy, John S and O'Riordan, Thomas and Strek, Mary E and Noth, Imre and Ma, Shwu-Fan and Porteous, Mary K and Kreider, Maryl E and Patel, Namrata B and Inoue, Yoshikazu and Hirose, Masaki and Arai, Toru and Akagawa, Shinobu and Eickelberg, Oliver and Fernandez, Isis Enlil and Behr, Juergen and Mogulkoc, Nesrin and Corte, Tamera J and Glaspole, Ian and Tomassetti, Sara and Ravaglia, Claudia and Poletti, Venerino and Crestani, Bruno and Borie, Raphael and Kannengiesser, Caroline and Parfrey, Helen and Fiddler, Christine and Rassl, Doris and Molina-Molina, Maria and Machahua, Carlos and Worboys, Ana Montes and Gudmundsson, Gunnar and Isaksson, Helgi J and Lederer, David J and Podolanczuk, Anna J and Montesi, Sydney B and Bendstrup, Elisabeth and Danchel, Vivi and Selman, Moises and Pardo, Annie and Henry, Michael T and Keane, Michael P and Doran, Peter and Vasakova, Martina and Sterclova, Martina and Ryerson, Christopher J and Wilcox, Pearce G and Okamoto, Tsukasa and Furusawa, Haruhiko and Miyazaki, Yasunari and Laurent, Geoffrey and Baltic, Svetlana and Prele, Cecilia and ...
American journal of respiratory and critical care medicine, ISSN 1073-449X, 07/2019, Volume 200, Issue 2, pp. 199 - 208
Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Cellular Senescence - genetics | Exoribonucleases - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Idiopathic Pulmonary Fibrosis - genetics | Mucin-5B - genetics | Humans | Logistic Models | Male | Promoter Regions, Genetic - genetics | Sequence Analysis, DNA | Case-Control Studies | RNA - genetics | Genetic Variation | Telomere-Binding Proteins - genetics | Telomerase - genetics | ATP-Binding Cassette Transporters - genetics | Host-Pathogen Interactions - genetics | Pulmonary Surfactant-Associated Protein C - genetics | Female | High-Throughput Nucleotide Sequencing | GTPase-Activating Proteins - genetics | DNA Helicases - genetics | Pulmonary Surfactant-Associated Protein A - genetics | Medicine | Senescence | Genealogy | Hospitals | Pulmonary fibrosis | Lung diseases | Genomics | Genomes | Gene loci | Family medical history | Mutation | University colleges | Index Medicus | Abridged Index Medicus | genetic variants | rare variants | idiopathic pulmonary fibrosis | Original | targeted resequencing | disease risk alleles
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