Articles

UofT Libraries is getting a new library services platform in January 2021.
Learn more about the change.

Search Articles

Advanced search
Help

Catalogue

Articles

Databases

X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
science & technology (74) 74
life sciences & biomedicine (72) 72
humans (66) 66
female (42) 42
male (41) 41
genetics & heredity (39) 39
mutation (34) 34
life sciences (29) 29
phenotype (25) 25
child (22) 22
adult (20) 20
child, preschool (17) 17
genetics (17) 17
biological and medical sciences (16) 16
genetic aspects (16) 16
cystic fibrosis (15) 15
adolescent (14) 14
cystic fibrosis transmembrane conductance regulator - genetics (14) 14
medical sciences (14) 14
cystic fibrosis - genetics (12) 12
genotype (12) 12
research (12) 12
genes (11) 11
infant (11) 11
pedigree (11) 11
biochemistry & molecular biology (10) 10
[sdv]life sciences [q-bio] (9) 9
analysis (9) 9
cftr (9) 9
france (9) 9
infant, newborn (9) 9
medical genetics (9) 9
young adult (9) 9
diagnosis (8) 8
dna mutational analysis (8) 8
fundamental and applied biological sciences. psychology (8) 8
gene mutations (8) 8
genetic disorders (8) 8
genotype & phenotype (8) 8
middle aged (8) 8
pediatrics (8) 8
animals (7) 7
base sequence (7) 7
endocrinology & metabolism (7) 7
exons (7) 7
gene deletion (7) 7
molecular sequence data (7) 7
mutation - genetics (7) 7
[sdv.gen]life sciences [q-bio]/genetics (6) 6
age (6) 6
genetics of eukaryotes. biological and molecular evolution (6) 6
genomics (6) 6
heterozygote (6) 6
intellectual disability - genetics (6) 6
neurology (6) 6
patients (6) 6
phenotypes (6) 6
physiological aspects (6) 6
polymerase chain reaction (6) 6
rna, messenger - genetics (6) 6
syndrome (6) 6
vas deferens - abnormalities (6) 6
abridged index medicus (5) 5
alleles (5) 5
biochemistry, molecular biology (5) 5
cystic fibrosis - diagnosis (5) 5
genetic association studies (5) 5
genetic counseling (5) 5
human health and pathology (5) 5
molecular and cellular biology (5) 5
molecular genetics (5) 5
pregnancy (5) 5
proteins (5) 5
[ sdv.gen ] life sciences [q-bio]/genetics (4) 4
[sdv.bbm]life sciences [q-bio]/biochemistry, molecular biology (4) 4
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (4) 4
amino acid sequence (4) 4
chromosome aberrations (4) 4
france - epidemiology (4) 4
genetic screening (4) 4
genotypes (4) 4
health aspects (4) 4
hearing loss, sensorineural - genetics (4) 4
human genetics (4) 4
in situ hybridization, fluorescence (4) 4
infertility (4) 4
intellectual disability (4) 4
male urogenital diseases - genetics (4) 4
medical education (4) 4
medicine (4) 4
medicine, research & experimental (4) 4
mutation, missense (4) 4
neurons and cognition (4) 4
prader-willi syndrome - genetics (4) 4
research & experimental medicine (4) 4
retrospective studies (4) 4
risk factors (4) 4
sequence deletion (4) 4
[sdv.mhep]life sciences [q-bio]/human health and pathology (3) 3
abnormalities, multiple - genetics (3) 3
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Genetics of the congenital absence of the vas deferens
by Bieth, Eric and Hamdi, Safouane M and Mieusset, Roger
Human genetics, ISSN 0340-6717, 02/2020, Volume 140, Issue 1, pp. 59 - 76
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Animals | Cystic Fibrosis - genetics | Humans | Vas Deferens - abnormalities | Azoospermia - genetics | Cystic Fibrosis Transmembrane Conductance Regulator - genetics | Male | Receptors, G-Protein-Coupled - genetics | Mutation - genetics | Male Urogenital Diseases - genetics | Cystic fibrosis | Genetic aspects | Genetic disorders | Genetic counseling | Infertility | Fetuses | Degeneration | Mutation | Diagnosis | Ultrasound | Vas deferens | Genetic screening | Organogenesis | Index Medicus | Review
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome
by Bar, Céline and Diene, Gwenaelle and Molinas, Catherine and Bieth, Eric and Casper, Charlotte and Tauber, Maithé
Orphanet journal of rare diseases, ISSN 1750-1172, 06/2017, Volume 12, Issue 1, pp. 118 - 118
Birth incidence | Early diagnosis | Prenatal diagnosis | Neonatal care | Prader-Willi syndrome | Delayed diagnosis | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Prader-Willi Syndrome - diagnosis | Humans | Prenatal Diagnosis | Prader-Willi Syndrome - therapy | Genotype | Infant | Male | Delayed Diagnosis | Incidence | Pregnancy | Prader-Willi Syndrome - genetics | Female | Early Diagnosis | Infant, Newborn | Neonates | Pediatrics | Anorexia | Births | Infants | Neurodevelopmental disorders | Swallowing | Medical diagnosis | Defects | Feeding | Studies | Babies | Newborn babies | Society | Diagnosis | Health risk assessment | Age | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens
by Patat, Olivier and Pagin, Adrien and Siegfried, Aurore and Mitchell, Valérie and Chassaing, Nicolas and Faguer, Stanislas and Monteil, Laetitia and Gaston, Véronique and Bujan, Louis and Courtade-Saïdi, Monique and Marcelli, François and Lalau, Guy and Rigot, Jean-Marc and Mieusset, Roger and Bieth, Eric
American journal of human genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 437 - 442
Exome - genetics | DNA Mutational Analysis | Genes, X-Linked - genetics | Pedigree | Gene Deletion | Humans | Vas Deferens - abnormalities | Cystic Fibrosis Transmembrane Conductance Regulator - genetics | Female | Male | Receptors, G-Protein-Coupled - genetics | Male Urogenital Diseases - genetics | Genotype & phenotype | Congenital diseases | Sperm | Infertility | Genomics | Mutation | Cell adhesion & migration | Index Medicus | Life Sciences | Reproductive Biology | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi syndrome
by Bieth, Eric and Eddiry, Sanaa and Gaston, Véronique and Lorenzini, Franҫoise and Buffet, Alexandre and Conte Auriol, Franҫoise and Molinas, Catherine and Cailley, Dorothée and Rooryck, Caroline and Arveiler, Benoit and Cavaillé, Jérome and Salles, Jean Pierre and Tauber, Maïthé
European journal of human genetics : EJHG, ISSN 1018-4813, 02/2015, Volume 23, Issue 2, pp. 252 - 255
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Prader-Willi Syndrome - diagnosis | RNA, Small Nucleolar - metabolism | Gene Deletion | Humans | Prader-Willi Syndrome - genetics | Adult | Female | Male | RNA, Small Nucleolar - genetics | Obesity | Genotype & phenotype | Phenotypes | Clonal deletion | Prader-Willi syndrome | Genes | DNA methylation | Genetics | Gene deletion | Chromosome 15 | Methylation | Age | Index Medicus | Short Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort
by Tlemsani, Camille and Luscan, Armelle and Leulliot, Nicolas and Bieth, Eric and Afenjar, Alexandra and Baujat, Geneviève and Doco-Fenzy, Martine and Goldenberg, Alice and Lacombe, Didier and Lambert, Laetitia and Odent, Sylvie and Pasche, Jérôme and Sigaudy, Sabine and Buffet, Alexandre and Violle-Poirsier, Céline and Briand-Suleau, Audrey and Laurendeau, Ingrid and Chin, Magali and Saugier-Veber, Pascale and Vidaud, Dominique and Cormier-Daire, Valérie and Vidaud, Michel and Pasmant, Eric and Burglen, Lydie
Journal of medical genetics, ISSN 0022-2593, 11/2016, Volume 53, Issue 11, pp. 743 - 751
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Care and treatment | Phenotype | Genetic aspects | Research | Sotos syndrome
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text CFTR‐France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants
by Claustres, Mireille and Thèze, Corinne and des Georges, Marie and Baux, David and Girodon, Emmanuelle and Bienvenu, Thierry and Audrezet, Marie‐Pierre and Dugueperoux, Ingrid and Férec, Claude and Lalau, Guy and Pagin, Adrien and Kitzis, Alain and Thoreau, Vincent and Gaston, Véronique and Bieth, Eric and Malinge, Marie‐Claire and Reboul, Marie‐Pierre and Fergelot, Patricia and Lemonnier, Lydie and Mekki, Chadia and Fanen, Pascale and Bergougnoux, Anne and Sasorith, Souphatta and Raynal, Caroline and Bareil, Corinne
Human mutation, ISSN 1059-7794, 10/2017, Volume 38, Issue 10, pp. 1297 - 1315
cystic fibrosis transmembrane regulator | CFTR‐RD | locus‐specific mutation database | cystic fibrosis | locus-specific mutation database | CFTR-RD | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Phenotype | Cystic Fibrosis - genetics | Humans | Alleles | Databases, Genetic | Cystic Fibrosis - diagnosis | Cystic Fibrosis Transmembrane Conductance Regulator - genetics | France | Mutation - genetics | Genetic Counseling | Infant, Newborn | Cystic fibrosis | Databases | Epidemiology | Medical genetics | Neonates | Genetic counseling | Intestine | Fetuses | Heterozygotes | Genetic diversity | Cystic fibrosis transmembrane conductance regulator | Ultrasound | Genetic screening | Index Medicus | Life Sciences
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
by Noonan, Kristin M and MacLaughlin, David T and Loscertales, Maria and Robson, Caroline and Walsh, Christopher A and Al-Gazali, Lihadh and Hill, R Sean and Donnai, Dian and Russell, Meaghan K and Bieth, Eric and Devriendt, Koen and Liu, Tianming and Chassaing, Nicolas and Teebi, Ahmad and Pober, Barbara R and Black, Graeme C M and Lacombe, Didier and Donahoe, Patricia K and Kantarci, Sibel
Nature genetics, ISSN 1061-4036, 08/2007, Volume 39, Issue 8, pp. 957 - 959
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Cell receptors | Miscellaneous | Complex syndromes | Medical genetics | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Cell structures and functions | Agenesis of Corpus Callosum | Humans | Hernia, Diaphragmatic - genetics | Hearing Loss, Sensorineural - genetics | Syndrome | Eye Diseases, Hereditary - genetics | Chromosomes, Human, Pair 2 | Kidney - abnormalities | Family | Low Density Lipoprotein Receptor-Related Protein-2 - genetics | Mutation | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Research | Kidney diseases | Brain | Genetics | Chromosomes | Developmental disabilities | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Chest pain in Brugada syndrome: Prevalence, correlations, and prognosis role
by Sebai, Fatiha and Rollin, Anne and Mondoly, Pierre and Voglimacci‐Stephanopoli, Quentin and Dupin‐Deguine, Delphine and Bieth, Eric and Hocini, Meleze and Monteil, Benjamin and Mandel, Franck and Galinier, Michel and Carrié, Didier and Haïssaguerre, Michel and Sacher, Frederic and Maury, Philippe
Pacing and clinical electrophysiology, ISSN 0147-8389, 04/2020, Volume 43, Issue 4, pp. 365 - 373
ST elevation | coronary spasm | Brugada syndrome | vasospastic angina | chest pain | Cardiac & Cardiovascular Systems | Engineering | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Technology | Engineering, Biomedical | Science & Technology | EKG | Chest | Prognosis | Coronary artery | Cardiovascular disease | Multivariate analysis | Coronary artery disease | Body mass index | Pain | Fibrillation | Ischemia | Syncope | Coronary vessels | Electrocardiography | Diagnosis | Heart diseases | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text SLC24A5 Mutations Are Associated with Non-Syndromic Oculocutaneous Albinism
by Morice-Picard, Fanny and Lasseaux, Eulalie and François, Stéphane and Simon, Delphine and Rooryck, Caroline and Bieth, Eric and Colin, Estelle and Bonneau, Dominique and Journel, Hubert and Walraedt, Sophie and Leroy, Bart P and Meire, Francoise and Lacombe, Didier and Arveiler, Benoit
Journal of investigative dermatology, ISSN 0022-202X, 02/2014, Volume 134, Issue 2, pp. 568 - 571
Life Sciences & Biomedicine | Dermatology | Science & Technology | Humans | Child, Preschool | Genotype | Infant | Male | Albinism, Oculocutaneous - classification | Young Adult | Phenotype | Albinism, Oculocutaneous - genetics | Adolescent | Antiporters - genetics | Female | Mutation | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
by Ucuncu, Ekin and Rajamani, Karthyayani and Wilson, Miranda S. C and Medina-Cano, Daniel and Altin, Nami and David, Pierre and Barcia, Giulia and Lefort, Nathalie and Banal, Céline and Vasilache-Dangles, Marie-Thérèse and Pitelet, Gaële and Lorino, Elsa and Rabasse, Nathalie and Bieth, Eric and Zaki, Maha S and Topcu, Meral and Sonmez, Fatma Mujgan and Musaev, Damir and Stanley, Valentina and Bole-Feysot, Christine and Nitschké, Patrick and Munnich, Arnold and Bahi-Buisson, Nadia and Fossoud, Catherine and Giuliano, Fabienne and Colleaux, Laurence and Burglen, Lydie and Gleeson, Joseph G and Boddaert, Nathalie and Saiardi, Adolfo and Cantagrel, Vincent
Nature communications, ISSN 2041-1723, 12/2020, Volume 11, Issue 1, pp. 6087 - 6087
Phosphorylation | Humans | Transcriptome | Child, Preschool | Homeostasis | Cytoplasm - metabolism | Infant | Male | Cerebellar Diseases - diagnostic imaging | Cerebellar Diseases - pathology | Phytic Acid - metabolism | Phosphoric Monoester Hydrolases - pharmacology | Cell Death | HEK293 Cells | Female | Cell Differentiation | Child | Phosphoric Monoester Hydrolases - genetics | Cerebellar Diseases - metabolism | Mice, Inbred C57BL | Gene Knockout Techniques | Mice, Knockout | Animals | Neurodevelopmental Disorders - metabolism | Stem Cells - drug effects | Mutation | Chelating Agents - metabolism | Phosphoric Monoester Hydrolases - metabolism | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Hypoplasia | Neuroimaging | Basal ganglia | Medical imaging | Calcium | Inositol polyphosphate | Genomes | Metabolism | Cell differentiation | Polyphosphates | Accumulation | Ganglia | Inositols | Cell death | Stem cells | Chelation | Fibroblasts | Physiology | Cations | Intracellular | Age | Inhibitory postsynaptic potentials | Index Medicus | Life Sciences
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights