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American journal of obstetrics and gynecology, ISSN 0002-9378, 12/2019, Volume 221, Issue 6, pp. B16 - B18
Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Genetic Testing | Humans | Congenital Bone Marrow Failure Syndromes - complications | Lower Extremity Deformities, Congenital - complications | Heart Septal Defects, Atrial - diagnosis | Thrombocytopenia - complications | Trisomy 18 Syndrome - complications | Trisomy 18 Syndrome - diagnosis | Thrombocytopenia - genetics | Heart Defects, Congenital - genetics | Microarray Analysis | Chorionic Villi Sampling | Heart Septal Defects, Atrial - genetics | Fanconi Anemia - genetics | Valproic Acid - adverse effects | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Thumb - diagnostic imaging | Carpal Bones - abnormalities | Fanconi Anemia - complications | Upper Extremity Deformities, Congenital - diagnosis | Heart Defects, Congenital - complications | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Limb Deformities, Congenital - diagnostic imaging | Heart Defects, Congenital - diagnosis | Trisomy 13 Syndrome - diagnosis | Radius - diagnostic imaging | Limb Deformities, Congenital - genetics | Spine - abnormalities | Amniotic Band Syndrome - complications | Heart Septal Defects, Atrial - complications | Congenital Bone Marrow Failure Syndromes - genetics | Trisomy 13 Syndrome - complications | Female | Amniotic Band Syndrome - diagnosis | Carpal Bones - diagnostic imaging | Trachea - abnormalities | Amniocentesis | Trisomy 13 Syndrome - genetics | Diagnosis, Differential | Lower Extremity Deformities, Congenital - diagnosis | Radius - abnormalities | Esophagus - abnormalities | Upper Extremity Deformities, Congenital - complications | Upper Extremity Deformities, Congenital - genetics | Congenital Bone Marrow Failure Syndromes - diagnosis | Anal Canal - abnormalities | Pregnancy | Limb Deformities, Congenital - diagnosis | Fanconi Anemia - diagnosis | Ultrasonography, Prenatal | Trisomy 18 Syndrome - genetics | Limb Deformities, Congenital - complications | Thrombocytopenia - diagnosis | Thumb - abnormalities | Abnormalities, Drug-Induced - diagnosis | Index Medicus | Abridged Index Medicus
Journal Article
Human molecular genetics, ISSN 0964-6906, 07/2012, Volume 21, Issue 14, pp. 3255 - 3263
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Fundamental and applied biological sciences. Psychology | Cardiology. Vascular system | Heart | Biological and medical sciences | Congenital heart diseases. Malformations of the aorta, pulmonary vessels and vena cava | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Abnormalities, Multiple - metabolism | Heart Defects, Congenital - embryology | Heart - embryology | Humans | Molecular Sequence Data | Abnormalities, Multiple - embryology | Heart Defects, Congenital - genetics | Lower Extremity Deformities, Congenital - embryology | Base Sequence | Heart Septal Defects, Atrial - metabolism | Upper Extremity Deformities, Congenital - embryology | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Lower Extremity Deformities, Congenital - metabolism | Animals, Genetically Modified | Zebrafish | Upper Extremity Deformities, Congenital - metabolism | Heart Septal Defects, Atrial - embryology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | T-Box Domain Proteins - metabolism | Homozygote | Point Mutation | Animals | Enhancer Elements, Genetic | Heart Defects, Congenital - metabolism | Mice | Index Medicus | Neonates | Animal models | Enhancers | Transcription factors | genomics | Genetic engineering | Mutation | Bioinformatics | Heart diseases | Holt-Oram syndrome
Journal Article
Human molecular genetics, ISSN 0964-6906, 03/2017, Volume 26, Issue 5, pp. 942 - 954
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Heart Atria - pathology | Transcriptional Activation - genetics | Humans | Protein Domains - genetics | Heart Defects, Congenital - genetics | Kruppel-Like Transcription Factors - metabolism | Cell Cycle Proteins - genetics | Heart Septal Defects, Atrial - metabolism | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Heart Ventricles - pathology | Repressor Proteins - metabolism | Disease Models, Animal | Lower Extremity Deformities, Congenital - metabolism | Cell Cycle Proteins - metabolism | Gene Expression Regulation | Heart Defects, Congenital - pathology | Repressor Proteins - genetics | Upper Extremity Deformities, Congenital - metabolism | Upper Extremity Deformities, Congenital - pathology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | T-Box Domain Proteins - metabolism | Heart Atria - metabolism | Animals | Protein Interaction Maps - genetics | Protein Binding | Heterozygote | Heart Defects, Congenital - metabolism | Heart Ventricles - metabolism | Mice | Mutation | Kruppel-Like Transcription Factors - genetics | Heart Septal Defects, Atrial - pathology | Lower Extremity Deformities, Congenital - pathology | Index Medicus
Journal Article
Clinical genetics, ISSN 0009-9163, 03/2017, Volume 91, Issue 3, pp. 349 - 354
congenital heart disease | mutation | GATA4 | NKX2‐5 | TBX5 | gene variant | NKX2-5 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Tetralogy of Fallot - pathology | Genetic Predisposition to Disease | Heart Defects, Congenital - classification | Heart Septal Defects, Ventricular - genetics | Genetic Association Studies | Heart Septal Defects, Ventricular - pathology | Humans | Heart Defects, Congenital - pathology | GATA4 Transcription Factor - genetics | Upper Extremity Deformities, Congenital - pathology | Tetralogy of Fallot - genetics | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Heart Defects, Congenital - genetics | Phenotype | Heart Septal Defects, Atrial - genetics | Homeobox Protein Nkx-2.5 - genetics | Mutation | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Heart Septal Defects, Atrial - pathology | Lower Extremity Deformities, Congenital - pathology | Analysis | Mortality | Genes | Genetic research | Amino acids | Genetic aspects | Congenital heart disease | Heart diseases | Diseases | Cardiovascular disease | Congenital diseases | Morbidity | Tetralogy of Fallot | TBX5 gene | Phenotypes | Exons | Infants | Coronary artery disease | Homeobox | Genetic variance | Children | Genetic factors | Ventricle | Health risk assessment | Index Medicus
Journal Article
Scientific reports, ISSN 2045-2322, 12/2015, Volume 5, Issue 1, pp. 18240 - 18240
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Abnormalities, Multiple - pathology | Multigene Family | Genomics | Zebrafish - embryology | Heart Defects, Congenital - genetics | Upper Extremity Deformities, Congenital - therapy | RNA Interference | Animal Fins - embryology | Gene Expression Regulation, Developmental | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Genome-Wide Association Study | Embryonic Development - genetics | Heart Defects, Congenital - pathology | Upper Extremity Deformities, Congenital - pathology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Zebrafish - genetics | Heart Septal Defects, Atrial - therapy | Phenotype | Animals | Abnormalities, Multiple - therapy | Lower Extremity Deformities, Congenital - therapy | Heart Defects, Congenital - therapy | MicroRNAs - genetics | Animal Fins - pathology | Heart Septal Defects, Atrial - pathology | Genetic Therapy - methods | Lower Extremity Deformities, Congenital - pathology | Heart | TBX5 gene | miRNA | Gene expression | Embryos | Heart diseases | Defects | Holt-Oram syndrome | Index Medicus
Journal Article
European journal of medical genetics, ISSN 1769-7212, 11/2017, Volume 60, Issue 11, pp. 589 - 594
Chromosome 20 deletion | Radial ray anomaly | ADNP | Microarray | Ventriculomegaly | SALL4 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Heart Septal Defects, Atrial - diagnostic imaging | Humans | Heart Septal Defects, Atrial - diagnosis | Heart Defects, Congenital - genetics | Heart Defects, Congenital - diagnostic imaging | Lower Extremity Deformities, Congenital - diagnostic imaging | Adult | Female | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Chromosome Deletion | Shab Potassium Channels - genetics | Diagnosis, Differential | Abnormalities, Multiple - diagnostic imaging | Lower Extremity Deformities, Congenital - diagnosis | Transcription Factors - genetics | Upper Extremity Deformities, Congenital - genetics | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Pregnancy | Upper Extremity Deformities, Congenital - diagnosis | Phenotype | Ultrasonography, Prenatal | Abnormalities, Multiple - diagnosis | Heart Defects, Congenital - diagnosis | Upper Extremity Deformities, Congenital - diagnostic imaging | Chromosomes, Human, Pair 20 - genetics | Genetic research | Genetic aspects | Diagnostic imaging | Ultrasound imaging | Pregnant women | Genomics | Medical colleges | Medical genetics | Cytogenetics | Index Medicus
Journal Article
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Holt-Oram syndrome: clinical and molecular description of 78 patients with TBX5 variants
European journal of human genetics : EJHG, ISSN 1018-4813, 2018, Volume 27, Issue 3, pp. 360 - 368
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Abnormalities, Multiple - pathology | Diagnosis, Differential | Humans | Heart Defects, Congenital - pathology | Infant | Upper Extremity Deformities, Congenital - pathology | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Heart Defects, Congenital - genetics | Phenotype | Heart Septal Defects, Atrial - genetics | Mutation | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Heart Septal Defects, Atrial - pathology | Lower Extremity Deformities, Congenital - pathology | Phenotypes | Diagnosis | Elbow | Genotypes | Defects | Holt-Oram syndrome | Index Medicus | Genetic counselling | Congenital heart defects | Disease genetics
Journal Article
Gene, ISSN 0378-1119, 04/2015, Volume 560, Issue 2, pp. 129 - 136
Missense mutation | TBX5 | Pathogenesis | Holt–Oram syndrome | Holt-Oram syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Gene Duplication | Genetic Association Studies | Humans | Heart Defects, Congenital - pathology | Myocardium - pathology | Heart Conduction System - abnormalities | Upper Extremity Deformities, Congenital - pathology | Mutation, Missense | Upper Extremity Deformities, Congenital - genetics | T-Box Domain Proteins - genetics | Heart Defects, Congenital - genetics | Phenotype | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Heart Septal Defects, Atrial - pathology | Lower Extremity Deformities, Congenital - pathology | Genes | Genetic aspects | Index Medicus
Journal Article
BMC musculoskeletal disorders, ISSN 1471-2474, 07/2018, Volume 19, Issue 1, pp. 262 - 262
Cross-sectional study | Nationwide survey | Birth prevalence | Congenital limb deficiency | Epidemiology | Life Sciences & Biomedicine | Orthopedics | Rheumatology | Science & Technology | Upper Extremity Deformities, Congenital - surgery | Japan - epidemiology | Age Distribution | Prevalence | Cross-Sectional Studies | Humans | Child, Preschool | Infant | Lower Extremity Deformities, Congenital - diagnosis | Male | Lower Extremity Deformities, Congenital - epidemiology | Upper Extremity Deformities, Congenital - diagnosis | Health Surveys | Time Factors | Sex Distribution | Female | Lower Extremity Deformities, Congenital - surgery | Upper Extremity Deformities, Congenital - epidemiology | Child | Infant, Newborn | Genetic aspects | Research | Analysis | Abnormalities | Extremities (Anatomy) | Prostheses | Limbs | Congenital diseases | Pancreatitis | Births | Patients | Defects | Confidence intervals | Sex ratio | Hospitals | Surgery | Cooperation | Response rates | Fingers & toes | Index Medicus
Journal Article
Cardiology journal, ISSN 1897-5593, 05/2019, Volume 26, Issue 3, pp. 302 - 303
Cardiac & Cardiovascular Systems | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Science & Technology | Predictive Value of Tests | Echocardiography, Transesophageal | Humans | Male | Echocardiography, Doppler, Color | Heart Septal Defects, Atrial - diagnosis | Heart Defects, Congenital - genetics | Upper Extremity Deformities, Congenital - therapy | Septal Occluder Device | Adult | Heart Septal Defects, Atrial - genetics | Lower Extremity Deformities, Congenital - genetics | Abnormalities, Multiple - genetics | Echocardiography, Three-Dimensional | Lower Extremity Deformities, Congenital - diagnosis | Treatment Outcome | Upper Extremity Deformities, Congenital - genetics | Cardiac Catheterization - instrumentation | Upper Extremity Deformities, Congenital - diagnosis | Heart Septal Defects, Atrial - therapy | Abnormalities, Multiple - therapy | Abnormalities, Multiple - diagnosis | Lower Extremity Deformities, Congenital - therapy | Heart Defects, Congenital - diagnosis | Heart Defects, Congenital - therapy
Journal Article
Gene, ISSN 0378-1119, 06/2020, Volume 743, pp. 144511 - 144511
mRNA | Valgus-varus deformity | lncRNA | RNA-seq | Broiler | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Lower Extremity Deformities, Congenital - veterinary | Genetic Predisposition to Disease | RNA, Messenger - genetics | Gene Expression Profiling | Gene Regulatory Networks | Bone Malalignment - genetics | Case-Control Studies | Animals | Bone Malalignment - veterinary | High-Throughput Screening Assays | Chickens - genetics | Bone Development - genetics | Fibroblast Growth Factor 10 - genetics | Chickens - abnormalities | Lower Extremity Deformities, Congenital - genetics | RNA, Long Noncoding - metabolism | Lower Extremity - growth & development | Index Medicus
Journal Article