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humans (26) 26
biological and medical sciences (15) 15
female (15) 15
male (13) 13
chromosome mapping (11) 11
life sciences & biomedicine (10) 10
nucleic acid hybridization (10) 10
science & technology (10) 10
genes (9) 9
animals (8) 8
medical sciences (8) 8
child, preschool (7) 7
fundamental and applied biological sciences. psychology (7) 7
genetics & heredity (6) 6
oncogenes (6) 6
x chromosome (6) 6
base sequence (5) 5
cricetinae (5) 5
dna restriction enzymes (5) 5
genetics of eukaryotes. biological and molecular evolution (5) 5
human (5) 5
hybrid cells (5) 5
neurology (5) 5
phenotype (5) 5
cell line (4) 4
cell lines (4) 4
child (4) 4
chromosome banding (4) 4
chromosomes (4) 4
chromosomes, human, 1-3 (4) 4
classical genetics, quantitative genetics, hybrids (4) 4
cricetulus (4) 4
diseases of striated muscles. neuromuscular diseases (4) 4
dna probes (4) 4
adult (3) 3
chromosome aberrations (3) 3
chromosome deletion (3) 3
chromosomes, human, 6-12 and x (3) 3
duchenne muscular dystrophy (3) 3
genetic loci (3) 3
human chromosomes (3) 3
hybridity (3) 3
medical genetics (3) 3
mice (3) 3
muscular dystrophies - genetics (3) 3
pedigree (3) 3
polymorphism, genetic (3) 3
prenatal diagnosis (3) 3
research (3) 3
somatic cells (3) 3
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (2) 2
alleles (2) 2
benign hereditary chorea (2) 2
clinical neurology (2) 2
cloning, molecular (2) 2
cytogenetics (2) 2
degenerative and inherited degenerative diseases of the nervous system. leukodystrophies. prion diseases (2) 2
deoxyribonucleases, type ii site-specific (2) 2
dna, complementary - analysis (2) 2
dna, neoplasm - genetics (2) 2
enzymes (2) 2
exons - genetics (2) 2
family health (2) 2
genetic linkage (2) 2
genetics (2) 2
human genetics (2) 2
in situ hybridization (2) 2
infant (2) 2
infant, newborn (2) 2
karyotyping (2) 2
life sciences (2) 2
meiosis (2) 2
molecular and cellular biology (2) 2
molecular biology (2) 2
molecular genetics (2) 2
movement disorders (2) 2
mutation (2) 2
mutation - genetics (2) 2
nerve growth factors - genetics (2) 2
nervous system (2) 2
neurosciences & neurology (2) 2
ornithine carbamoyltransferase - genetics (2) 2
pax gene (2) 2
plasmids (2) 2
polymorphism, restriction fragment length (2) 2
pregnancy (2) 2
prenatal diagnosis - methods (2) 2
restriction fragment length polymorphisms (2) 2
syndrome (2) 2
y chromosome (2) 2
[ sdv.bbm ] life sciences [q-bio]/biochemistry, molecular biology (1) 1
[ sdv.bbm.bm ] life sciences [q-bio]/biochemistry, molecular biology/molecular biology (1) 1
[ sdv.bbm.gtp ] life sciences [q-bio]/biochemistry, molecular biology/genomics [q-bio.gn] (1) 1
[ sdv.gen ] life sciences [q-bio]/genetics (1) 1
[ sdv.gen.gh ] life sciences [q-bio]/genetics/human genetics (1) 1
[ sdv.mhep ] life sciences [q-bio]/human health and pathology (1) 1
[ sdv.neu ] life sciences [q-bio]/neurons and cognition [q-bio.nc] (1) 1
[ sdv.neu.nb ] life sciences [q-bio]/neurons and cognition [q-bio.nc]/neurobiology (1) 1
[info.info-bi]computer science [cs]/bioinformatics [q-bio.qm] (1) 1
[sdv.bbm.bm]life sciences [q-bio]/biochemistry, molecular biology/molecular biology (1) 1
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1. Full Text Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase
by Tuffery‐Giraud, Sylvie and Béroud, Christophe and Leturcq, France and Yaou, Rabah Ben and Hamroun, Dalil and Michel‐Calemard, Laurence and Moizard, Marie‐Pierre and Bernard, Rafaëlle and Cossée, Mireille and Boisseau, Pierre and Blayau, Martine and Creveaux, Isabelle and Guiochon‐Mantel, Anne and de Martinville, Bérengère and Philippe, Christophe and Monnier, Nicole and Bieth, Eric and Van Kien, Philippe Khau and Desmet, François‐Olivier and Humbertclaude, Véronique and Kaplan, Jean‐Claude and Chelly, Jamel and Claustres, Mireille
Human mutation, ISSN 1059-7794, 06/2009, Volume 30, Issue 6, pp. 934 - 945
dystrophinopathies | database | DMD | mutations | Duchenne muscular dystrophy | Database | Mutations | Dystrophinopathies | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Knowledge Bases | Introns - genetics | RNA Splice Sites - genetics | Humans | Databases, Genetic | Exons - genetics | Genotype | Male | Mutation - genetics | Point Mutation - genetics | Phenotype | Dystrophin - genetics | Gene Rearrangement | Female | Heterozygote | Software | Muscular Dystrophy, Duchenne - genetics | France | Chromosome Breakage | Codon, Nonsense - genetics | Index Medicus | Life Sciences | Genetics | Bioinformatics | Human genetics | Computer Science
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2. Full Text Phenotypic variation among seven members of one family with deficiency of hypoxanthine–guanine phosphoribosyltransferase
by Ceballos-Picot, Irène and Augé, Franck and Fu, Rong and Olivier-Bandini, Anne and Cahu, Julie and Chabrol, Brigitte and Aral, Bernard and de Martinville, Bérengère and Lecain, Jean-Paul and Jinnah, H.A
Molecular genetics and metabolism, ISSN 1096-7192, 11/2013, Volume 110, Issue 3, pp. 268 - 274
Variants | HGprt | Phenotype–genotype | Lesch–Nyhan disease | Molecular modeling | PRPP | Phenotype-genotype | Lesch-Nyhan disease | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Lesch-Nyhan Syndrome - metabolism | Humans | Middle Aged | Lesch-Nyhan Syndrome - genetics | Models, Molecular | Male | Hypoxanthine Phosphoribosyltransferase - chemistry | Hypoxanthine Phosphoribosyltransferase - deficiency | Young Adult | Phenotype | Codon | Hypoxanthine Phosphoribosyltransferase - genetics | Pedigree | Adolescent | Protein Binding | Adult | Lesch-Nyhan Syndrome - diagnosis | Protein Conformation | Enzyme Activation | Kinetics | Mutation | Protein Stability | Child | Amino Acid Substitution | Purines | Enzymes | Index Medicus | phenotype-genotype | variants | molecular modeling
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3. Full Text The Human Fatty Acid Transport Protein-1 (SLC27A1; FATP-1) cDNA and Gene: Organization, Chromosomal Localization, and Expression
by Martin, Geneviève and Nemoto, Masami and Gelman, Laurent and Geffroy, Sandrine and Najib, Jamila and Fruchart, Jean-Charles and Roevens, Peter and de Martinville, Bérengère and Deeb, Samir and Auwerx, Johan
Genomics (San Diego, Calif.), ISSN 0888-7543, 06/2000, Volume 66, Issue 3, pp. 296 - 304
Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Molecular genetics | Genes. Genome | DNA, Complementary - analysis | Gene Expression | Exons | Introns | Physical Chromosome Mapping | Carrier Proteins - biosynthesis | Humans | DNA, Complementary - genetics | Fatty Acid Transport Proteins | Muscle, Skeletal - metabolism | Glycosylation | Organ Specificity | Amino Acid Motifs | Carrier Proteins - genetics | Chromosomes, Human, Pair 19 - genetics | RNA, Messenger - biosynthesis | Sequence Analysis, Protein | Blotting, Northern | Membrane Transport Proteins | Myocardium - metabolism | Cloning, Molecular | RNA | Fatty acids | Low density lipoproteins | Genes | FATP-1 gene | chromosome 19 | fatty acid transport protein 1 | Index Medicus
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4. Full Text The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients
by Doco‐Fenzy, Martine and Holder‐Espinasse, Muriel and Bieth, Eric and Magdelaine, Corinne and Vincent, Marie‐Claire and Khoury, Maroun and Andrieux, Joris and Zhang, Feng and Lupski, James R and Klink, Rabih and Schneider, Anouck and Goze‐Martineau, Odile and Cuisset, Jean‐Marie and Vallee, Louis and Manouvrier‐Hanu, Sylvie and Gaillard, Dominique and de Martinville, Bérengère
American journal of medical genetics. Part A, ISSN 1552-4825, 04/2008, Volume 146A, Issue 7, pp. 917 - 924
human pair 17 | Potocki–Lupski syndrome | contiguous gene syndrome | dup(p11.2p11.2) | dup(p11.2p12) | chromosomes | PMP22 | CMT1A | duplication | Contiguous gene syndrome | Duplication | CMTlA | Chromosomes | Human pair 17 | Potocki-Lupski syndrome | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurology | Cerebrospinal fluid. Meninges. Spinal cord | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Medical genetics | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Nervous system (semeiology, syndromes) | Chromosomes, Human, Pair 17 | Humans | Chromosome Aberrations | Child, Preschool | Female | In Situ Hybridization, Fluorescence | Male | Child | Index Medicus | Biochemistry, Molecular Biology | Neurons and Cognition | Genomics | Neurobiology | Life Sciences | Human health and pathology | Genetics | Molecular biology | Human genetics
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5. Full Text Attenuated presentation of ataxia-telangiectasia with familial cancer history
by Simonin, C and Devos, D and Vuillaume, I and de Martinville, B and Sablonnière, B and Destée, A and Stoppa-Lyonnet, D and Defebvre, L
Journal of neurology, ISSN 0340-5354, 8/2008, Volume 255, Issue 8, pp. 1261 - 1263
Neurology | Neurosciences | Medicine & Public Health | Neuroradiology | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Breast Neoplasms - genetics | alpha-Fetoproteins - genetics | alpha-Fetoproteins - cerebrospinal fluid | Humans | Adult | Ataxia Telangiectasia - genetics | Family Health | Female | Male | Mutation - genetics | Care and treatment | Demographic aspects | Patient outcomes | Ataxia telangiectasia | Family | Reports | Health aspects
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6. Full Text New syndromic form of benign hereditary chorea is associated with a deletion of TITF‐1 and PAX‐9 contiguous genes
by Devos, David and Vuillaume, Isabelle and De Becdelievre, Alix and De Martinville, Berengère and Dhaenens, Claire‐Marie and Cuvellier, Jean‐Christophe and Cuisset, Jean‐Marie and Vallée, Louis and Lemaitre, Marie‐Pierre and Bourteel, Hélène and Hachulla, Eric and Wallaert, Benoit and Destée, Alain and Defebvre, Luc and Sablonnière, Bernard
Movement disorders, ISSN 0885-3185, 12/2006, Volume 21, Issue 12, pp. 2237 - 2240
brain–thyroid–lung syndrome | TITF‐1 gene | movement disorders | benign hereditary chorea | PAX gene | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases | Thyroid Nuclear Factor 1 | Chorea - physiopathology | Humans | Child, Preschool | Family Health | Male | Tooth Diseases - etiology | Thyroid Diseases - etiology | Transcription Factors - genetics | Lung Diseases - etiology | Microsatellite Repeats - genetics | Gene Deletion | Chromosomes, Human, Pair 14 | Female | PAX9 Transcription Factor - genetics | Chorea - genetics | Nuclear Proteins - genetics | Child | In Situ Hybridization, Fluorescence - methods | Index Medicus
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7. Full Text New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contigous genes
by Devos, David and Vuillaume, Isabelle and de Becdelievre, Alix and de Martinville, Berengère and Dhaenens, Claire-Marie and Cuvellier, Jean-Christophe and Cuisset, Jean-Marie and Vallée, Louis and Lemaitre, Marie-Pierre and Bourteel, Hélène and Hachulla, Eric and Wallaert, Benoit and Destée, Alain and Defebvre, Luc and Sablonnière, Bernard
Movement disorders, ISSN 0885-3185, 2006, Volume 21, Issue 12, pp. 2237 - 2240
TITF-1 gene | Benign hereditary chorea | Brain-thyroid-lung syndrome | Movement disorders | PAX gene
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8. Full Text Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome
by Francke, U and Ochs, H.D and de Martinville, B and Giacalone, J and Lindgren, V and Distèche, C and Pagon, R.A and Hofker, M.H and van Ommen, G.J and Pearson, P.L
American journal of human genetics, ISSN 0002-9297, 1985, Volume 37, Issue 2, pp. 250 - 267
Biological and medical sciences | Medical sciences | Chromosome aberrations | Medical genetics | Cricetulus | Humans | Hybrid Cells | Granulomatous Disease, Chronic - genetics | Child, Preschool | Intellectual Disability - complications | Male | Blood Group Antigens - genetics | Granulomatous Disease, Chronic - complications | Muscular Dystrophies - genetics | Intellectual Disability - genetics | Retinitis Pigmentosa - complications | Karyotyping | Female | Intestinal Obstruction - complications | Genetic Linkage | Chromosome Deletion | Cell Line | Cricetinae | Nucleic Acid Hybridization | Chromosome Banding | Retinitis Pigmentosa - genetics | Chromosome Mapping | Muscular Dystrophies - complications | Syndrome | Phenotype | Animals | X Chromosome | Kell Blood-Group System - genetics | Intestinal Obstruction - genetics | Index Medicus | Original
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9. Full Text Localization of the Human OB Gene (OBS) to Chromosome 7q32 by Fluorescence in Situ Hybridization
by Geffroy, Sandrine and De Vos, Piet and Staels, Bart and Duban, Bénédicte and Auwerx, Johan and de Martinville, Bérengère
Genomics (San Diego, Calif.), ISSN 0888-7543, 1995, Volume 28, Issue 3, pp. 603 - 604
Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Science & Technology | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | DNA, Complementary - analysis | Humans | Fluorescence | Molecular Sequence Data | Chromosome Mapping | DNA Primers | Chromosomes, Human, Pair 7 | Proteins - genetics | Animals | In Situ Hybridization | Base Sequence | Leptin | Mice | Index Medicus
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10. Full Text Prenatal diagnosis of severe factor vii deficiency using mutation detection and linkage analysis
by Giansily-Blaizot, Muriel and Aguilar-Martinez, Patricia and Mazurier, Claudine and Cneude, Fabrice and Goudemand, Jenny and Schved, Jean-Francois and de Martinville, Berengere
British journal of haematology, ISSN 0007-1048, 01/2001, Volume 112, Issue 1, pp. 251 - 252
prenatal diagnosis | Factor VII deficiency | genotyping | Genotyping | Prenatal diagnosis | Life Sciences & Biomedicine | Hematology | Science & Technology | Hematologic and hematopoietic diseases | Gynecology. Andrology. Obstetrics | Management. Prenatal diagnosis | Biological and medical sciences | Pregnancy. Fetus. Placenta | Medical sciences | Platelet diseases and coagulopathies | Pregnancy | Fetal Diseases - diagnosis | DNA Mutational Analysis | Humans | Child, Preschool | Female | Chromosome Mapping | Hemophilia A - diagnosis | Prenatal Diagnosis - methods | Infant, Newborn
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11. Full Text Human Ornithine Transcarbamylase Locus Mapped to Band Xp21.1 near the Duchenne Muscular Dystrophy Locus
by Valerie Lindgren and Bérengère De Martinville and Arthur L. Horwich and Leon E. Rosenberg and Uta Francke
Science (American Association for the Advancement of Science), ISSN 0036-8075, 11/1984, Volume 226, Issue 4675, pp. 698 - 700
DNA probes | Somatic cells | Duchenne muscular dystrophy | Genes | Cell lines | X chromosome | Genetic loci | Reports | In situ hybridization | Chromosomes | Human X chromosome | Neurology | Biological and medical sciences | Medical sciences | Diseases of striated muscles. Neuromuscular diseases | Nucleic Acid Hybridization | Humans | Prenatal Diagnosis | Male | Chromosome Mapping | Sex Chromosome Aberrations - genetics | DNA - metabolism | Ornithine Carbamoyltransferase - genetics | Muscular Dystrophies - genetics | Animals | Muscular Dystrophies - enzymology | X Chromosome | Female | Mice | Enzymes | Chromosome mapping | Genetic aspects | Research | Human chromosomes | Ornithine transcarbamylase | Muscular dystrophy | Index Medicus
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12. Full Text The c-Ha-ras1, insulin and β-globin loci map outside the deletion associated with aniridia-Wilms' tumour
by De Martinville, B and De Martinville, Bérengère and Francke, Uta and Francke, U
Nature (London), ISSN 0028-0836, 1983, Volume 305, Issue 5935, pp. 641 - 643
Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Chromosome Deletion | Kidney Neoplasms - genetics | Chromosome Banding | Crossing Over, Genetic | Wilms Tumor - genetics | Chromosomes, Human, 6-12 and X | Genes | Humans | Child, Preschool | Infant | Male | Meiosis | Syndrome | Globins - genetics | DNA Restriction Enzymes | Plasmids | Karyotyping | Alleles | Iris - abnormalities | Female | Insulin - genetics | Neoplasm Proteins - genetics | Infant, Newborn | Oncogenes | Index Medicus
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13. Full Text Prenatal diagnosis of severe factor vii deficiency using mutation detection and linkage analysis
: Correspondence
by Giansily-Blaizot, Muriel and Aguilar-Martinez, Patricia and Mazurier, Claudine and Cneude, Fabrice and Goudemand, Jenny and Schved, Jean-Francois and De Martinville, Berengère
British journal of haematology, ISSN 0007-1048, 01/2001, Volume 112, Issue 1, pp. 251 - 252
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14. Full Text BclI RFLP at the DXS16 locus
by De Martinville, B and de Martinville, Bérengère and Uhrhammer, Nancy A and Uhrhammer, N.A
Nucleic acids research, ISSN 0305-1048, 1988, Volume 16, Issue 22, pp. 10949 - 10949
Genes, Dominant | Polymorphism, Restriction Fragment Length | Humans | X Chromosome | Female | Male | Deoxyribonucleases, Type II Site-Specific | Polymorphism, Genetic | Index Medicus
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15. Full Text The Human Gene for the β Subunit of Nerve Growth Factor is Located on the Proximal Short Arm of Chromosome 1
by Uta Francke and Berengere De Martinville and Lisa Coussens and Axel Ullrich
Science (American Association for the Advancement of Science), ISSN 0036-8075, 12/1983, Volume 222, Issue 4629, pp. 1248 - 1251
Hybrid cells | Somatic cells | Genes | Cell lines | Nerves | Genetic loci | Reports | Human chromosomes | Hybridity | Chromosomes | Insulin | Fundamental and applied biological sciences. Psychology | Classical genetics, quantitative genetics, hybrids | Human | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Chromosomes, Human, 1-3 | Cricetinae | Nucleic Acid Hybridization | Animals | Chromosome Banding | Nerve Growth Factors - genetics | Humans | Hybrid Cells | Chromosome Mapping | Oncogenes | Genetic research | Regeneration | Nervous system | Biochemistry | Research | Molecular biology | Index Medicus
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16. Full Text Bell RFLP at the DXSl6 locus
by de Martinville, B and Uhrhammer, N. A
Nucleic acids research, ISSN 0305-1048, 11/1988, Volume 16, Issue 22, pp. 10949 - 10949
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17. Full Text Oncogene from Human EJ Bladder Carcinoma is Located on the Short Arm of Chromosome 11
by Bérengère De Martinville and Joseph Giacalone and Chiaho Shih and Robert A. Weinberg and Uta Francke
Science (American Association for the Advancement of Science), ISSN 0036-8075, 2/1983, Volume 219, Issue 4584, pp. 498 - 501
Tumor cell line | Carcinoma | Hybrid cells | Somatic cells | Genes | Cell lines | Reports | Human chromosomes | Chromosomes | Hybridity | Oncogenes | Cell Line | Nucleic Acid Hybridization | Urinary Bladder Neoplasms - genetics | DNA Restriction Enzymes | Chromosomes, Human, 6-12 and X | Humans | Hybrid Cells | Chromosome Mapping | Chromosome mapping | Research | Cancer | Index Medicus
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