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1. Full Text Attenuated BMP1 Function Compromises Osteogenesis, Leading to Bone Fragility in Humans and Zebrafish
by Asharani, P.V and Keupp, Katharina and Semler, Oliver and Wang, Wenshen and Li, Yun and Thiele, Holger and Yigit, Gökhan and Pohl, Esther and Becker, Jutta and Frommolt, Peter and Sonntag, Carmen and Altmüller, Janine and Zimmermann, Katharina and Greenspan, Daniel S and Akarsu, Nurten A and Netzer, Christian and Schönau, Eckhard and Wirth, Radu and Hammerschmidt, Matthias and Nürnberg, Peter and Wollnik, Bernd and Carney, Thomas J
American journal of human genetics, ISSN 0002-9297, 04/2012, Volume 90, Issue 4, pp. 661 - 674
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 | Osteogenesis - physiology | Peptide Fragments | Humans | Child, Preschool | Molecular Sequence Data | Male | Genetic Loci | Exome | Bone Morphogenetic Protein 1 - genetics | Base Sequence | Bone and Bones - metabolism | Heat-Shock Proteins | Diphosphonates - therapeutic use | Female | Cell Differentiation | Collagen - biosynthesis | Bone Morphogenetic Protein 1 - metabolism | Osteogenesis - genetics | Osteoblasts - drug effects | Osteoblasts - physiology | Osteogenesis - drug effects | Bone Density Conservation Agents - therapeutic use | Bone Morphogenetic Protein 1 - physiology | Zebrafish - genetics | Animals | Bone Morphogenetic Protein 1 - secretion | Zebrafish - metabolism | Protein Processing, Post-Translational | Mutation | Fractures, Bone - drug therapy | Fractures, Bone - prevention & control | Osteoporosis | Gene mutations | Causes of | Bone morphogenetic proteins | Chemical properties | Research | Nucleotide sequencing | DNA sequencing | Post-translational modification | Peptides | Analysis | Collagen | Bones | Transforming growth factors | Density | Cells | Proteins | Human subjects | Signal transduction | Zebrafish | Genetics | Index Medicus
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2. Full Text Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome
by Kalay, Ersan and Sezgin, Orhan and Chellappa, Vasant and Mutlu, Mehmet and Morsy, Heba and Kayserili, Hulya and Kreiger, Elmar and Cansu, Aysegul and Toraman, Bayram and Abdalla, Ebtesam Mohammed and Aslan, Yakup and Pillai, Shiv and Akarsu, Nurten A
American journal of human genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 76 - 85
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 | Ophthalmology | Diseases of eyelid, conjunctiva and lacrimal tracts | Skin Abnormalities | Humans | Protein-Serine-Threonine Kinases - genetics | Molecular Sequence Data | Infant | Male | NF-kappa B - metabolism | Cleft Palate - genetics | Chromosomes, Human, Pair 21 - genetics | Pterygium - genetics | Genes, Recessive | Cleft Lip - genetics | Animals | DNA Mutational Analysis | Base Sequence | Adolescent | Female | Mice | Polymorphism, Single Nucleotide | Mutation | Pterygium - congenital | Infant, Newborn | Chromosome mapping | Usage | Gene mutations | Epithelial cells | Physiological aspects | Research | Protein kinases | Health aspects | Proteins | Genetic disorders | Rodents | Genetic research | Kinases | Chromosomes | Index Medicus | Report
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3. Full Text Disruption of PTPRO Causes Childhood-Onset Nephrotic Syndrome
by Ozaltin, Fatih and Ibsirlioglu, Tulin and Taskiran, Ekim Z and Baydar, Dilek Ertoy and Kaymaz, Figen and Buyukcelik, Mithat and Kilic, Beltinge Demircioglu and Balat, Ayse and Iatropoulos, Paraskevas and Asan, Esin and Akarsu, Nurten A and Schaefer, Franz and Yilmaz, Engin and Bakkaloglu, Ayşin and the PodoNet Consortium and PodoNet Consortium
American journal of human genetics, ISSN 0002-9297, 07/2011, Volume 89, Issue 1, pp. 139 - 147
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Glomerulonephritis | General aspects. Genetic counseling | Nephropathies. Renovascular diseases. Renal failure | Medical genetics | Nephrology. Urinary tract diseases | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Amino Acid Sequence | RNA Splice Sites | Exons | Humans | Child, Preschool | Molecular Sequence Data | Male | Nephrotic Syndrome - genetics | Receptor-Like Protein Tyrosine Phosphatases, Class 3 - genetics | Genes, Recessive | Nephrotic Syndrome - congenital | Homozygote | Pedigree | Receptor-Like Protein Tyrosine Phosphatases, Class 3 - metabolism | Adolescent | Age of Onset | Female | Consanguinity | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 12 | Genome-Wide Association Study - methods | Child | Codon, Nonsense - genetics | Chromosome mapping | Usage | Care and treatment | Nephrotic syndrome | Genetic aspects | Research | Diagnosis | Homozygosity | Proteins | Genetic disorders | Mutation | Kidney diseases | Deoxyribonucleic acid--DNA | Index Medicus | Report
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4. Full Text Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type
by Malik, Sajid and Percin, Ferda E and Bornholdt, Dorothea and Albrecht, Beate and Percesepe, Antonio and Koch, Manuela C and Landi, Antonio and Fritz, Barbara and Khan, Rizwan and Mumtaz, Sara and Akarsu, Nurten A and Grzeschik, Karl-Heinz
American journal of human genetics, ISSN 0002-9297, 12/2014, Volume 95, Issue 6, pp. 649 - 659
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Haplotypes | Humans | Middle Aged | Male | Mutation, Missense | Young Adult | Pakistan | DNA Mutational Analysis | Female | Fingers - abnormalities | Binding Sites | Dimerization | Genes, Reporter | Protein Structure, Tertiary | Amino Acid Sequence | Basic Helix-Loop-Helix Transcription Factors - genetics | Genotype | Phenotype | Sequence Alignment | Turkey | Pedigree | Protein Binding | Italy | Toes - abnormalities | Syndactyly - genetics | Protein research | Genetic disorders | Gene mutations | Physiological aspects | Research | DNA binding proteins | Health aspects | Proteins | Amino acids | Gene expression | Chromosomes | Binding sites | Deoxyribonucleic acid--DNA | Index Medicus
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5. Full Text Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association
by Yee, Christina S., MD, PhD and Massaad, Michel J., PhD and Bainter, Wayne, BA and Ohsumi, Toshiro K., PhD and Föger, Niko, PhD and Chan, Andrew C., MD, PhD and Akarsu, Nurten A., MD and Aytekin, Caner, MD and Ayvaz, Deniz Çagdas, MD, PhD and Tezcan, Ilhan, MD, PhD and Sanal, Özden, MD and Geha, Raif S., MD and Chou, Janet, MD
Journal of allergy and clinical immunology, ISSN 0091-6749, 2015, Volume 137, Issue 3, pp. 879 - 888.e2
Allergy and Immunology | T-cell lymphopenia | immunodeficiency | Coronin-1A | Allergy | Immunology | Life Sciences & Biomedicine | Science & Technology | T-Lymphocyte Subsets - immunology | Frameshift Mutation | Immunoglobulins - immunology | Humans | Actins - metabolism | Cell Survival - genetics | Male | Skin Diseases - pathology | CD4-Positive T-Lymphocytes - immunology | Warts - pathology | Cell Degranulation - genetics | DNA Mutational Analysis | Immunoglobulins - blood | Protein Multimerization - genetics | Actins - chemistry | Female | Microfilament Proteins - metabolism | Microfilament Proteins - genetics | Siblings | Microfilament Proteins - chemistry | Signal Transduction | CD4-Positive T-Lymphocytes - metabolism | Virus Diseases - metabolism | Cell Degranulation - immunology | Protein Transport | Virus Diseases - etiology | Homozygote | Phenotype | Animals | Lymphopenia | Pedigree | T-Lymphocyte Subsets - metabolism | Virus Diseases - diagnosis | Adolescent | Cytoskeleton - metabolism | Lymphocyte Count | Mice | Mutation | Oligomers | Medical colleges | Relapse | Actin | Immunodeficiency | Medical genetics | Genetic aspects | Molecular biology | T cells | Health aspects | Diseases | Kinases | Lymphocytes | Viral infections | Index Medicus | Abridged Index Medicus | T cell lymphopenia
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6. Full Text Loss-of-Function Mutations in ELMO2 Cause Intraosseous Vascular Malformation by Impeding RAC1 Signaling
by Cetinkaya, Arda and Xiong, Jingwei Rachel and Vargel, İbrahim and Kösemehmetoğlu, Kemal and Canter, Halil İbrahim and Gerdan, Ömer Faruk and Longo, Nicola and Alzahrani, Ahmad and Camps, Mireia Perez and Taskiran, Ekim Zihni and Laupheimer, Simone and Botto, Lorenzo D and Paramalingam, Eeswari and Gormez, Zeliha and Uz, Elif and Yuksel, Bayram and Ruacan, Şevket and Sağıroğlu, Mahmut Şamil and Takahashi, Tokiharu and Reversade, Bruno and Akarsu, Nurten Ayse
American journal of human genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 299 - 317
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Species Specificity | Cytoskeletal Proteins - genetics | Humans | Male | Phylogeny | Cytoskeletal Proteins - deficiency | rac GTP-Binding Proteins - genetics | Adult | Cytoskeletal Proteins - metabolism | Female | Vascular Malformations - metabolism | Bone and Bones - blood supply | Signal Transduction - genetics | Mutation - genetics | Vascular Malformations - pathology | Zebrafish - genetics | Homozygote | Phenotype | Animals | Adaptor Proteins, Signal Transducing - deficiency | Adaptor Proteins, Signal Transducing - genetics | Alleles | Zebrafish - physiology | Vascular Malformations - genetics | Adaptor Proteins, Signal Transducing - metabolism | rac1 GTP-Binding Protein - metabolism | Cell Movement | Evolution, Molecular | Blood circulation disorders | Cellular signal transduction | Genetic aspects | Gene mutations | Health aspects | Angiogenesis | Phylogenetics | Blood vessels | Homeostasis | Zebrafish | Comparative analysis | Tissues | Index Medicus
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7. Full Text Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
by Alanay, Yasemin and Avaygan, Hrispima and Camacho, Natalia and Utine, G. Eda and Boduroglu, Koray and Aktas, Dilek and Alikasifoglu, Mehmet and Tuncbilek, Ergul and Orhan, Diclehan and Bakar, Filiz Tiker and Zabel, Bernard and Superti-Furga, Andrea and Bruckner-Tuderman, Leena and Curry, Cindy J.R and Pyott, Shawna and Byers, Peter H and Eyre, David R and Baldridge, Dustin and Lee, Brendan and Merrill, Amy E and Davis, Elaine C and Cohn, Daniel H and Akarsu, Nurten and Krakow, Deborah
American journal of human genetics, ISSN 0002-9297, 2010, Volume 86, Issue 4, pp. 551 - 559
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | General aspects. Genetic counseling | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Humans | Osteogenesis Imperfecta - genetics | Male | Mutation - genetics | Genes, Recessive | Case-Control Studies | Tacrolimus Binding Proteins - genetics | Homozygote | Phenotype | Collagen Type I - genetics | Pedigree | Adolescent | Female | Osteogenesis Imperfecta - pathology | Child | Skin - pathology | Cohort Studies | Osteogenesis imperfecta | Genetic aspects | Gene mutations | Protein folding | Analysis | Proteins | Bones | Mutation | Pathogenesis | Genes | Index Medicus
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8. Full Text Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy
by Gundesli, Hulya and Talim, Beril and Korkusuz, Petek and Balci-Hayta, Burcu and Cirak, Sebahattin and Akarsu, Nurten A and Topaloglu, Haluk and Dincer, Pervin
American journal of human genetics, ISSN 0002-9297, 2010, Volume 87, Issue 6, pp. 834 - 841
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 | Plectin - genetics | Exons | Muscular Dystrophies, Limb-Girdle - genetics | Pedigree | Humans | Female | Male | Consanguinity | Mutation | Genes, Recessive | Protein Isoforms - genetics | Care and treatment | Gene mutations | Analysis | Muscles | Genetic aspects | Health aspects | Muscular dystrophy | Musculoskeletal system | Genotype & phenotype | Transmission electron microscopy | Genetic linkage | Gene expression | Chromosomes | Index Medicus | Report
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9. Full Text KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
by Putoux, Auey and Thomas, Sophie and Coene, Karlien L. M and Davis, Erica E and Alanay, Yasemin and Ogur, Gönül and Uz, Elif and Buzas, Daniela and Gomes, Céline and Patrier, Sophie and Bennett, Christopher L and Elkhartoufi, Nadia and Frison, Marie-Hélène Saint and Rigonnot, Luc and Joyé, Nicole and Pruvost, Solenn and Utine, Gulen Eda and Boduroglu, Koray and Nitschke, Patrick and Fertitta, Laura and Thauvin-Robinet, Christel and Munnich, Arnold and Cormier-Daire, Valérie and Hennekam, Raoul and Colin, Estelle and Akarsu, Nurten Ayse and Bole-Feysot, Christine and Cagnard, Nicolas and Schmitt, Alain and Goudin, Nicolas and Lyonnet, Stanislas and Encha-Razavi, Férechté and Siffroi, Jean-Pierre and Winey, Mark and Katsanis, Nicholas and Gonzales, Marie and Vekemans, Michel and Beales, Philip L and Attié-Bitach, Tania
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 6, pp. 601 - 606
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Diseases of the osteoarticular system | Malformations and congenital and or hereditary diseases involving bones. Joint deformations | Heart Defects, Congenital - embryology | Humans | Child, Preschool | Hedgehog Proteins - metabolism | Hydrocephalus - pathology | Infant | Male | Hand Deformities, Congenital - embryology | Heart Defects, Congenital - genetics | Kinesin - genetics | Female | Hydrocephalus - genetics | Child | Cerebral Ventricles - pathology | Acrocallosal Syndrome - genetics | Heart Defects, Congenital - pathology | Cilia - genetics | Acrocallosal Syndrome - pathology | Magnetic Resonance Imaging | Hydrocephalus - embryology | Hand Deformities, Congenital - genetics | Pedigree | Adolescent | Consanguinity | Mutation | Hand Deformities, Congenital - pathology | Hydrolethalus syndrome | Acrocallosal syndrome | Gene mutations | Genetic aspects | Research | Health aspects | Risk factors | Studies | Brain | Genotype & phenotype | Fetuses | Genetics | Genomes | Chromosomes | Evacuations & rescues | Index Medicus
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