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
life sciences & biomedicine (43) 43
science & technology (43) 43
humans (37) 37
genetics & heredity (34) 34
female (30) 30
male (23) 23
biological and medical sciences (18) 18
medical sciences (17) 17
pregnancy (13) 13
abnormalities, multiple - genetics (12) 12
adult (12) 12
infant, newborn (11) 11
abnormalities, multiple - epidemiology (10) 10
child (10) 10
congenital malformations (10) 10
medical genetics (10) 10
prenatal diagnosis (10) 10
congenital anomalies (9) 9
infant (9) 9
adolescent (8) 8
birth defects (8) 8
genetics (8) 8
prevalence (8) 8
chromosome aberrations (7) 7
france - epidemiology (7) 7
life sciences (7) 7
medical education (7) 7
mutation (7) 7
genetic disorders (6) 6
pedigree (6) 6
phenotype (6) 6
registries (6) 6
syndrome (6) 6
abnormalities, multiple - diagnosis (5) 5
child, preschool (5) 5
congenital abnormalities - epidemiology (5) 5
etiology (5) 5
france (5) 5
intellectual disability - genetics (5) 5
middle aged (5) 5
[sdv]life sciences [q-bio] (4) 4
abnormalities, multiple - physiopathology (4) 4
biochemistry & molecular biology (4) 4
consanguinity (4) 4
fundamental and applied biological sciences. psychology (4) 4
general aspects. genetic counseling (4) 4
genes (4) 4
genetic aspects (4) 4
gynecology. andrology. obstetrics (4) 4
heart defects, congenital - epidemiology (4) 4
infants (4) 4
management. prenatal diagnosis (4) 4
pregnancy. fetus. placenta (4) 4
pregnant women (4) 4
retrospective studies (4) 4
ultrasonography, prenatal (4) 4
abridged index medicus (3) 3
animals (3) 3
ascertainment (3) 3
care and treatment (3) 3
chromosome deletion (3) 3
congenital abnormalities - diagnosis (3) 3
congenital defects (3) 3
congenital diseases (3) 3
deafness (3) 3
diagnosis (3) 3
diseases of the osteoarticular system (3) 3
down syndrome (3) 3
esophagus (3) 3
genetic association studies (3) 3
genetics of eukaryotes. biological and molecular evolution (3) 3
genomes (3) 3
genotype & phenotype (3) 3
human genetics (3) 3
karyotyping (3) 3
malformations and congenital and or hereditary diseases involving bones. joint deformations (3) 3
multiple congenital anomalies (3) 3
neurology (3) 3
research (3) 3
risk factors (3) 3
skeletal dysplasia (3) 3
spine - abnormalities (3) 3
surveillance (3) 3
syndromes (3) 3
trisomy (3) 3
young adult (3) 3
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (2) 2
abnormalities (2) 2
abnormalities, multiple - etiology (2) 2
achondrogenesis (2) 2
achondroplasia (2) 2
adults (2) 2
age (2) 2
aged (2) 2
alleles (2) 2
anal canal - abnormalities (2) 2
aneurysms (2) 2
base sequence (2) 2
brachydactyly (2) 2
cardiac & cardiovascular systems (2) 2
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Associated congenital anomalies among cases with Down syndrome
by Stoll, Claude and Dott, Beatrice and Alembik, Yves and Roth, Marie-Paule
European journal of medical genetics, ISSN 1769-7212, 2015, Volume 58, Issue 12, pp. 674 - 680
Medical Education | Trisomy 21 | Surveillance | Etiology | Ascertainment | Congenital heart disease | Down syndrome | Congenital heart defects | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Congenital Abnormalities - epidemiology | Prevalence | Genetic Association Studies | Humans | Prenatal Diagnosis | Europe - epidemiology | Down Syndrome - epidemiology | Infant | Male | Incidence | Congenital Abnormalities - diagnosis | Pregnancy | Public Health Surveillance | Down Syndrome - complications | Female | Registries | Down Syndrome - diagnosis | Infant, Newborn | Hernia | Genetic disorders | Pregnant women | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Associated anomalies in cases with anorectal anomalies
by Stoll, Claude and Dott, Beatrice and Alembik, Yves and Roth, Marie‐Paule
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2646 - 2660
anorectal malformations | vertebral defects, anal atresia, cardiac septal defects, esophageal atresia or tracheoesophageal fistula, renal anomalies and radial limb defects | multiple congenital anomalies | anal anomalies | urogenital anomalies | anorectal anomalies | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Pregnancy | Vertebrae | Etiology | Congenital defects | Hernias | Fistulae | Anorectal | Sudden infant death syndrome--SIDS | Defects | Esophagus | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. L'Etat de la France et de ses habitants
by Potel, Jean Yves
1985, Collection L'état du monde, ISBN 2707115223, 640
France Politics and government | France Economic conditions | France Social conditions
Book
Details down arrow
4. Full Text Omphalocele and gastroschisis and associated malformations
by Stoll, Claude and Alembik, Yves and Dott, Beatrice and Roth, Marie‐Paule
American journal of medical genetics. Part A, ISSN 1552-4825, 05/2008, Volume 146A, Issue 10, pp. 1280 - 1285
classification of birth defects | gastroschisis | congenital malformations | abdominal wall defects | omphalocele | Gastroschisis | Abdominal wall defects | Omphalocele | Classification of birth defects | Congenital malformations | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Biological and medical sciences | Medical genetics | Medical sciences | Prevalence | Humans | Gastroschisis - epidemiology | Hernia, Umbilical - epidemiology | Gastroschisis - physiopathology | Hernia, Umbilical - diagnosis | Hernia, Umbilical - physiopathology | Abnormalities, Multiple - physiopathology | Gastroschisis - diagnosis | Gastroschisis - genetics | Abdominal Wall - abnormalities | Abnormalities, Multiple - diagnosis | Abnormalities, Multiple - epidemiology | Abnormalities, Multiple - genetics | Hernia, Umbilical - genetics | Infant, Newborn | Congenital Abnormalities - classification | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Associated anomalies in cases with esophageal atresia
by Stoll, Claude and Alembik, Yves and Dott, Beatrice and Roth, Marie‐Paule
American journal of medical genetics. Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2139 - 2157
tracheooesophageal fistula | congenital anomalies | congenital malformations | esophageal atresia | VACTERL association | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Disorders - epidemiology | Limb Deformities, Congenital - genetics | Congenital Abnormalities - epidemiology | Esophageal Atresia - epidemiology | Humans | Congenital Abnormalities - physiopathology | Stillbirth | Limb Deformities, Congenital - physiopathology | Male | Spine - abnormalities | Esophagus - physiopathology | Heart Defects, Congenital - genetics | Congenital Abnormalities - genetics | Anal Canal - physiopathology | Abnormalities, Multiple - epidemiology | Female | Esophageal Atresia - genetics | Trachea - physiopathology | Esophageal Atresia - complications | Chromosome Disorders - physiopathology | Abnormalities, Multiple - genetics | Kidney - physiopathology | Trachea - abnormalities | Esophageal Atresia - physiopathology | Chromosome Disorders - complications | Spine - physiopathology | Fetus - physiopathology | Esophagus - abnormalities | Abnormalities, Multiple - physiopathology | Anal Canal - abnormalities | Pregnancy | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Chromosome Aberrations | Heart Defects, Congenital - epidemiology | Limb Deformities, Congenital - complications | Heart Defects, Congenital - physiopathology | Chromosome Disorders - genetics | Development and progression | Birth defects | Genetic disorders | Etiology | Congenital defects | Hernias | Fetuses | CHARGE syndrome | Infants | Sudden infant death syndrome--SIDS | Esophagus | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Infection risk among adults with down syndrome: A two group series of 101 patients in a tertiary center
by Guffroy, Aurélien and Dieudonné, Yannick and Uring-Lambert, Beatrice and Goetz, Joelle and Alembik, Yves and Korganow, Anne-Sophie
Orphanet journal of rare diseases, ISSN 1750-1172, 01/2019, Volume 14, Issue 1, pp. 15 - 15
Neurological impairment | Adult | Down syndrome | Infectious risk | Immunodeficiency | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Down Syndrome - metabolism | Humans | Middle Aged | Male | Hospitalization | Down Syndrome - immunology | Young Adult | Lymphopenia - metabolism | Adolescent | Chromosome Aberrations | Down Syndrome - genetics | Female | Aged | Lymphopenia - immunology | Retrospective Studies | Lymphopenia - genetics | Infection | Clinical trials | Children | Health aspects | Analysis | Risk factors | Congenital diseases | Memory | Mortality | Epilepsy | Malignancy | Hypothyroidism | Multivariate analysis | Streptococcus infections | Hospitals | Down's syndrome | Lymphopenia | Lymphocytes | Dementia disorders | Degeneration | Adults | Tetanus | Age | Dementia | Immune system | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Immune Defect in Adults With Down Syndrome: Insights Into a Complex Issue
by Dieudonné, Yannick and Uring-Lambert, Beatrice and Jeljeli, Mohamed Maxime and Gies, Vincent and Alembik, Yves and Korganow, Anne-Sophie and Guffroy, Aurélien
Frontiers in immunology, ISSN 1664-3224, 2020, Volume 11, pp. 840 - 840
Infection | Mortality | Disabled children | Adults | Disease susceptibility | Down syndrome | B cells | Index Medicus | primary immunodeficiency | down syndrome | autoimmunity | adulthood | infectious risk
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text A new SLC10A7 homozygous missense mutation responsible for a milder phenotype of skeletal dysplasia with amelogenesis imperfecta
by Laugel-Haushalter, Virginie and Bär, Séverine and Schaefer, Elise and Stoetzel, Corinne and Geoffroy, Véronique and Alembik, Yves and Kharouf, Naji and Huckert, Mathilde and Hamm, Pauline and Hemmerlé, Joseph and Manière, Marie-Cécile and Friant, Sylvie and Dollfus, Hélène and Bloch-Zupan, Agnès
Frontiers in genetics, ISSN 1664-8021, 2019, Volume 10, Issue MAY, p. 504
Human | Rare diseases | NGS (next generation sequencing) | Skeletal dysplasia | Amelogenesis imperfecta | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic research | Dysplasia | Genetic aspects | Life Sciences | Genetics | Human genetics | rare diseases | human | skeletal dysplasia | amelogenesis imperfecta
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects
by Nasser, Hala and Vera, Liza and Elmaleh-Bergès, Monique and Steindl, Katharina and Letard, Pascaline and Teissier, Natacha and Ernault, Anais and Guimiot, Fabien and Afenjar, Alexandra and Moutard, Marie Laure and Héron, Delphine and Alembik, Yves and Momtchilova, Martha and Milani, Paolo and Kubis, Nathalie and Pouvreau, Nathalie and Zollino, Marcella and Guilmin Crepon, Sophie and Kaguelidou, Florentia and Gressens, Pierre and Verloes, Alain and Rauch, Anita and El Ghouzzi, Vincent and Drunat, Severine and Passemard, Sandrine
Journal of medical genetics, ISSN 0022-2593, 06/2020, Volume 57, Issue 6, pp. 389 - 399
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Deafness | Cyclin-dependent kinases | Genes | Fetuses | Cognitive ability | Retina | Genomes | Hypothalamus | Microcephaly | Patients | Pigmentation | Neurogenesis | Holoprosencephaly | Defects | Dwarfism | Genotype & phenotype | Microencephaly | Magnetic resonance imaging | Cognition & reasoning | Cell cycle | Cochlea | Mutation | Microphthalmia | Index Medicus | Life Sciences | Genetics | Development Biology | Human genetics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A
by Boussion, Simon and Escande, Fabienne and Jourdain, Anne‐Sophie and Smol, Thomas and Brunelle, Perrine and Duhamel, Céline and Alembik, Yves and Attié‐Bitach, Tania and Baujat, Geneviève and Bazin, Anne and Bonnière, Maryse and Carassou, Philippe and Carles, Dominique and Devisme, Louise and Goizet, Cyril and Goldenberg, Alice and Grotto, Sarah and Guichet, Agnès and Jouk, Pierre‐Simon and Loeuillet, Laurence and Mechler, Charlotte and Michot, Caroline and Pelluard, Fanny and Putoux, Audrey and Whalen, Sandra and Ghoumid, Jamal and Manouvrier‐Hanu, Sylvie and Petit, Florence
Human mutation, ISSN 1059-7794, 07/2020, Volume 41, Issue 7, pp. 1220 - 1225
TAR syndrome | RBM8A | exon junction complex | Y14 | regulatory SNP | Thrombocytopenia | Neonates | Genetic counseling | Core protein | Splicing | 5' Untranslated Regions | mRNA | Chromosome 1 | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm
by Elbitar, Sandy and Renard, Marjolijn and Arnaud, Pauline and Hanna, Nadine and Jacob, Marie-Paule and Guo, Dong-Chuan and Tsutsui, Ko and Gross, Marie-Sylvie and Kessler, Ketty and Tosolini, Laurent and Dattilo, Vincenzo and Dupont, Sebastien and Jonquet, Jeremie and Langeois, Maud and Benarroch, Louise and Aubart, Melodie and Ghaleb, Youmna and Abou Khalil, Yara and Varret, Mathilde and El Khoury, Petra and Ho-Tin-Noé, Benoit and Alembik, Yves and Gaertner, Sébastien and Isidor, Bertrand and Gouya, Laurent and Milleron, Olivier and Sekiguchi, Kiyotoshi and Milewicz, Dianna and De Backer, Julie and Le Goff, Carine and Michel, Jean-Baptiste and Jondeau, Guillaume and Sakai, Lynn Y and Boileau, Catherine and Abifadel, Marianne
Genetics in medicine, ISSN 1098-3600, 2020, Volume 23, Issue 1, pp. 111 - 122
diagnosis | ADAMTSL6 | thoracic aortic aneurysm | THSD4 | Aneurysms | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Clinical impact of post-mortem genetic testing in cardiac death and cardiomyopathy
by Marey, Isabelle and Fressart, Véronique and Rambaud, Caroline and Fornes, Paul and Martin, Laurent and Grotto, Sarah and Alembik, Yves and Gorka, Hervé and Millat, Gilles and Gandjbakhch, Estelle and Bordet, Céline and Grandmaison, Geoffroy Lorin de la and Richard, Pascale and Charron, Philippe
Open medicine (Warsaw, Poland), ISSN 2391-5463, 05/2020, Volume 15, Issue 1, pp. 435 - 446
sudden death | cardiac death | cardiomyopathy | genetic testing | post-mortem | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Heart failure | Pathology | Cardiomyopathy | Pulmonary arteries | Fibroblasts | Cardiovascular disease | Genetic testing | Cardiology | Deoxyribonucleic acid--DNA | Life Sciences | Human health and pathology | Genetics | Cardiology and cardiovascular system | Human genetics
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights