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The New England journal of medicine, ISSN 0028-4793, 07/2013, Volume 369, Issue 4, pp. 351 - 361
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Pulmonary hypertension. Acute cor pulmonale. Pulmonary embolism. Pulmonary vascular diseases | Medical sciences | Pneumology | Chlorobenzoates - therapeutic use | Humans | ortho-Aminobenzoates - therapeutic use | Molecular Sequence Data | Male | Mutation, Missense | Exome | Nerve Tissue Proteins - chemistry | Female | Hypertension, Pulmonary - drug therapy | Amino Acid Sequence | Genetic Predisposition to Disease | Lung - pathology | Nerve Tissue Proteins - physiology | Potassium Channels, Tandem Pore Domain - genetics | Familial Primary Pulmonary Hypertension | Hypertension, Pulmonary - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Channelopathies - genetics | Channelopathies - drug therapy | Pedigree | Potassium Channels, Tandem Pore Domain - physiology | Heterozygote | Potassium Channels, Tandem Pore Domain - chemistry | Cinnamates - therapeutic use | Causes of | Genetic aspects | Research | Genetic variation | Pulmonary hypertension | Hypertension | Proteins | Phospholipase | Missense mutation | Bone morphogenetic protein receptor type II | Channelopathy | Genes | Calcium channels (voltage-gated) | Mutation | Potassium channels | Drug therapy | Index Medicus | Abridged Index Medicus
Journal Article
Nature genetics, ISSN 1061-4036, 01/2014, Volume 46, Issue 1, pp. 65 - 69
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Pulmonary Veno-Occlusive Disease - physiopathology | Humans | Middle Aged | Protein-Serine-Threonine Kinases - genetics | Hypertension, Pulmonary - physiopathology | Male | Chromosome Mapping | Young Adult | Homozygote | Pulmonary Veno-Occlusive Disease - genetics | Pedigree | Adult | Female | Mutation | Protein-Serine-Threonine Kinases - metabolism | Causes of | Physiological aspects | Genetic aspects | Research | Gene mutations | Pulmonary hypertension | Studies | Genetic counseling | Genes | Tomography | Software | Genomes | Kinases | Experiments | Siblings | Index Medicus | Life Sciences | Biochemistry, Molecular Biology | Genomics
Journal Article
The European respiratory journal, 01/2019, Volume 53, Issue 1
Journal Article
American journal of respiratory and critical care medicine, ISSN 1073-449X, 04/2010, Volume 181, Issue 8, pp. 851 - 861
BMPR2 | Hereditary hemorrhagic telangiectasia | Hemodynamic | Pulmonary hypertension | Bone morphogenetic protein receptor type 2 | Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Blood Pressure | Age Distribution | Humans | Middle Aged | Pulmonary Wedge Pressure | Child, Preschool | Hypertension, Pulmonary - physiopathology | Infant | Male | Young Adult | Point Mutation - genetics | Exercise Test - methods | Adult | Female | Registries | France | Child | Vascular Resistance | Bone Morphogenetic Protein Receptors, Type II - genetics | Exercise Test - statistics & numerical data | Hypertension, Pulmonary - genetics | Pulmonary Artery | Oxygen - blood | Activin Receptors, Type II - genetics | Adolescent | Survival Analysis | Sequence Deletion - genetics | Index Medicus | Abridged Index Medicus
Journal Article
American journal of human genetics, ISSN 0002-9297, 07/2018, Volume 103, Issue 1, pp. 144 - 153
actin cytoskeleton | recurrent de novo truncating mutations | neurodevelopmental disorder | lamellipodia | seizures | developmental delay | WASF1 | autism | WAVE1 complex | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Young Adult | Seizures - genetics | Humans | Adult | Female | Heterozygote | Male | Mutation - genetics | Wiskott-Aldrich Syndrome Protein Family - genetics | Whole Exome Sequencing - methods | Intellectual Disability - genetics | Autism | Actin | Genomics | Polymerization | Genetic aspects | Seizures (Medicine) | Muscle proteins | Index Medicus | Report | methods | Klinisk medicin | Whole Exome Sequencing | Clinical Medicine | genetics | Mutation | Wiskott-Aldrich Syndrome Protein Family | Intellectual Disability | Seizures
Journal Article
Nature communications, ISSN 2041-1723, 04/2018, Volume 9, Issue 1, pp. 1416 - 16
a_open_article_in_open_journal | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Prognosis | Humans | Male | Familial Primary Pulmonary Hypertension - diagnosis | SOXF Transcription Factors - metabolism | Aquaporin 1 - metabolism | Case-Control Studies | Familial Primary Pulmonary Hypertension - metabolism | Membrane Transport Proteins - genetics | Base Sequence | HEK293 Cells | Adult | Female | Growth Differentiation Factors - genetics | Membrane Transport Proteins - metabolism | Familial Primary Pulmonary Hypertension - pathology | Genetic Predisposition to Disease | Bone Morphogenetic Protein Receptors, Type II - genetics | Signal Transduction | Gene Expression Regulation | Adenosine Triphosphatases - metabolism | Models, Molecular | Familial Primary Pulmonary Hypertension - genetics | Bone Morphogenetic Protein Receptors, Type II - metabolism | Membrane Transport Proteins - chemistry | Whole Genome Sequencing | Aquaporin 1 - chemistry | Aquaporin 1 - genetics | Growth Differentiation Factors - metabolism | Transforming Growth Factor beta - genetics | Adenosine Triphosphatases - chemistry | Adenosine Triphosphatases - genetics | Mutation | SOXF Transcription Factors - genetics | Transforming Growth Factor beta - metabolism | SOXF Transcription Factors - chemistry | Growth Differentiation Factors - chemistry | Hypertension | Bone morphogenetic protein receptor type II | Secretion | Transforming growth factor | Genes | Genomes | Heritability | Aquaporin 1 | Pulmonary hypertension | Gene sequencing | Index Medicus
Journal Article
American journal of respiratory and critical care medicine, ISSN 1073-449X, 08/2019, Volume 200, Issue 4, pp. 406 - 408
Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Heart | Transplants & implants | Mortality | Lung diseases | Cardiovascular disease | Medical diagnosis | Pulmonary hypertension | Travel | Genotype & phenotype | Medical prognosis | Hypoxia | Chronic obstructive pulmonary disease | Thromboembolism | Health risk assessment | Cardiology | Emphysema | Smoking | Index Medicus | Abridged Index Medicus
Journal Article
The European respiratory journal, ISSN 0903-1936, 07/2020, Volume 56, Issue 1
Journal Article
The European respiratory journal, ISSN 0903-1936, 08/2017, Volume 50, Issue 2, pp. 1700889 - 1700889
Life Sciences & Biomedicine | Respiratory System | Science & Technology | Hypertension, Pulmonary - mortality | Multivariate Analysis | France - epidemiology | Hypertension, Pulmonary - diagnosis | Hypertension, Pulmonary - classification | Prognosis | World Health Organization | Risk Assessment | Humans | Middle Aged | Male | Biomarkers - blood | Lung Transplantation | Atrial Pressure | Survival Analysis | Adult | Female | Registries | Aged | Hypertension, Pulmonary - drug therapy | Retrospective Studies | Walk Test | Natriuretic Peptide, Brain - blood | Practice Guidelines as Topic | Hypertension | Brain natriuretic peptide | Transplants & implants | Syngeneic grafts | Lung transplantation | Transplantation | Survival | Pulmonary hypertension | Medical prognosis | Risk assessment | Diagnosis | Heart diseases
Journal Article
American journal of respiratory and critical care medicine, ISSN 1073-449X, 09/2020, Volume 202, Issue 5, pp. E90 - E91
Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Proteins | Chronic obstructive pulmonary disease | Genetic disorders | Mutation | Connective tissue diseases | Pulmonary hypertension | Index Medicus | Abridged Index Medicus
Journal Article
The lancet respiratory medicine, ISSN 2213-2600, 2017, Volume 5, Issue 2, pp. 125 - 134
Pulmonary/Respiratory | Respiratory System | Life Sciences & Biomedicine | Critical Care Medicine | General & Internal Medicine | Science & Technology | Hemangioma, Capillary - therapy | Lung Neoplasms - mortality | Humans | Middle Aged | Child, Preschool | Infant | Male | Familial Primary Pulmonary Hypertension - therapy | Hemangioma, Capillary - genetics | Hypertension, Pulmonary - therapy | Young Adult | Pulmonary Veno-Occlusive Disease - genetics | Lung Transplantation | Hemangioma, Capillary - mortality | Aged, 80 and over | Adult | Female | Child | Infant, Newborn | Lung Neoplasms - genetics | Hypertension, Pulmonary - mortality | Pulmonary Veno-Occlusive Disease - therapy | Pulmonary Veno-Occlusive Disease - mortality | Protein-Serine-Threonine Kinases - genetics | Familial Primary Pulmonary Hypertension - genetics | Hypertension, Pulmonary - genetics | Treatment Outcome | Lung Neoplasms - therapy | Disease-Free Survival | Phenotype | Familial Primary Pulmonary Hypertension - mortality | Adolescent | Age of Onset | Alleles | Aged | Mutation | Genetic aspects | Research | Gene mutations | Pulmonary hypertension | Patient outcomes | Index Medicus
Journal Article