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 (71) 71
life sciences & biomedicine (70) 70
humans (59) 59
genetics & heredity (57) 57
female (46) 46
male (45) 45
biological and medical sciences (26) 26
child (26) 26
medical sciences (25) 25
phenotype (23) 23
child, preschool (22) 22
genetics (22) 22
medical genetics (19) 19
mutation (19) 19
adult (18) 18
infant (17) 17
biochemistry & molecular biology (15) 15
life sciences (15) 15
adolescent (14) 14
fundamental and applied biological sciences. psychology (13) 13
genetic aspects (13) 13
genetics of eukaryotes. biological and molecular evolution (13) 13
research (13) 13
animals (12) 12
pedigree (12) 12
molecular and cellular biology (10) 10
pregnancy (10) 10
syndrome (10) 10
young adult (10) 10
general aspects. genetic counseling (9) 9
abnormalities, multiple - genetics (8) 8
chromosome deletion (8) 8
comparative genomic hybridization (8) 8
gene mutations (8) 8
genes (8) 8
genotype (8) 8
intellectual disability - genetics (8) 8
medical education (8) 8
molecular sequence data (8) 8
phenotypes (8) 8
transcription factors (8) 8
genetic association studies (7) 7
human genetics (7) 7
infant, newborn (7) 7
physiological aspects (7) 7
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (6) 6
abridged index medicus (6) 6
base sequence (6) 6
dna mutational analysis (6) 6
dysplasia (6) 6
genetic disorders (6) 6
in situ hybridization, fluorescence (6) 6
mental retardation (6) 6
mesh: humans (6) 6
middle aged (6) 6
prenatal diagnosis (6) 6
analysis (5) 5
care and treatment (5) 5
chromosomes (5) 5
haploinsufficiency (5) 5
health aspects (5) 5
limb deformities, congenital - genetics (5) 5
neurology (5) 5
radiography (5) 5
respiratory system (5) 5
sequence analysis, dna (5) 5
ultrasonography, prenatal (5) 5
[sdv.bdd]life sciences [q-bio]/development biology (4) 4
[sdv.gen]life sciences [q-bio]/genetics (4) 4
[sdv]life sciences [q-bio] (4) 4
abnormalities, multiple - diagnosis (4) 4
abnormalities, multiple - pathology (4) 4
alleles (4) 4
amino acid sequence (4) 4
cardiac & cardiovascular systems (4) 4
cardiovascular system & cardiology (4) 4
cohort studies (4) 4
cytogenetics (4) 4
epilepsy (4) 4
facies (4) 4
fingers - abnormalities (4) 4
gene (4) 4
genes, dominant (4) 4
genetic research (4) 4
genetic testing (4) 4
genotype-phenotype (4) 4
gynecology. andrology. obstetrics (4) 4
haplotypes (4) 4
heredity (4) 4
intellectual disability - diagnosis (4) 4
mesh: child (4) 4
mesh: child, preschool (4) 4
obstetrics & gynecology (4) 4
osteoporosis (4) 4
risk factors (4) 4
seizures (4) 4
skin (4) 4
surgery (4) 4
trachea - surgery (4) 4
usage (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss
by Simpson, Michael A and Irving, Melita D and Asilmaz, Esra and Gray, Mary J and Dafou, Dimitra and Elmslie, Frances V and Mansour, Sahar and Holder, Sue E and Brain, Caroline E and Burton, Barbara K and Kim, Katherine H and Pauli, Richard M and Aftimos, Salim and Stewart, Helen and Kim, Chong Ae and Holder-Espinasse, Muriel and Robertson, Stephen P and Drake, William M and Trembath, Richard C
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 4, pp. 303 - 305
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Osteoporosis. Osteomalacia. Paget disease | Complex syndromes | Diseases of the osteoarticular system | Medical genetics | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Exons | Humans | DNA, Complementary - genetics | Mutant Proteins - genetics | Receptor, Notch2 - metabolism | Male | Mutant Proteins - metabolism | Receptor, Notch2 - genetics | Hajdu-Cheney Syndrome - metabolism | Hajdu-Cheney Syndrome - genetics | Hajdu-Cheney Syndrome - pathology | Protein Sorting Signals - genetics | DNA Mutational Analysis | Pedigree | Base Sequence | Alleles | Female | Mutation | Osteoporosis | Somatotropin | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Research | Osteolysis | Health aspects | Risk factors | Studies | Medical research | Bone density | Genes | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Haematological chimerism masquerading as disorder of sex development
by Sakka, Sophia D and Mann, Kathy and Lachlan, Katherine and Davies, Justin H and Bateman, Mark and Holder‐Espinasse, Muriel and Arya, Ved Bhushan
Clinical endocrinology (Oxford), ISSN 0300-0664, 05/2020, Volume 92, Issue 5, pp. 487 - 489
sex‐discordant | twins | haematological chimerism | gonadal dysgenesis | XY DSD | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Chimerism | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
by Jones, Wendy D and Dafou, Dimitra and McEntagart, Meriel and Woollard, Wesley J and Elmslie, Frances V and Holder-Espinasse, Muriel and Irving, Melita and Saggar, Anand K and Smithson, Sarah and Trembath, Richard C and Deshpande, Charu and Simpson, Michael A
American journal of human genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 358 - 364
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Molecular and cellular biology | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Medical genetics | Abnormalities, Multiple - pathology | Haploinsufficiency - genetics | Hypertrichosis - congenital | Growth Disorders - pathology | Histone-Lysine N-Methyltransferase | Humans | Molecular Sequence Data | Mutation - genetics | Sequence Analysis, DNA | Exome - genetics | Hypertrichosis - genetics | Myeloid-Lymphoid Leukemia Protein - genetics | Base Sequence | Hypertrichosis - pathology | Gene Components | Growth Disorders - genetics | Abnormalities, Multiple - genetics | Body hair | Gene mutations | Growth | Proteus syndrome | Histones | Hypertrichosis | Causes of | Genetic aspects | Research | Diagnosis | Health aspects | Proteins | Genotype & phenotype | Genetic disorders | Mutation | Mental disorders | Index Medicus | Hair | Enzymes | Body height | MLL protein | histone methyltransferase | Transcription | Catalysis | Methylation | Elbow | Mental retardation | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene
by Irving, Melita D and Dimitrov, Boyan I and Wessels, Marja and Holder‐Espinasse, Muriel and Chitayat, David and Simpson, Michael A
American journal of medical genetics. Part A, ISSN 1552-4825, 12/2016, Volume 170, Issue 12, pp. 3133 - 3137
SF3B4 | exome sequencing | Nager syndrome | Rodriguez acrofacial dysostosis | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Humans | Mandibulofacial Dysostosis - physiopathology | Male | RNA Splicing Factors - genetics | Abnormalities, Multiple - physiopathology | Mandibulofacial Dysostosis - genetics | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Fetus | Heterozygote | Mutation | Abnormalities, Multiple - genetics | Siblings | Genes | Genetic aspects | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Array‐CGH detection of a de novo 0.7‐Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms
by Auvin, Stéphane and Holder‐Espinasse, Muriel and Lamblin, Marie‐Dominique and Andrieux, Joris
Epilepsia (Copenhagen), ISSN 0013-9580, 11/2009, Volume 50, Issue 11, pp. 2501 - 2503
Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Allelic Imbalance - genetics | Humans | Child, Preschool | In Situ Hybridization, Fluorescence | Infant | Male | Spasms, Infantile - genetics | Intellectual Disability - genetics | Chromosomes, Human, Pair 19 - genetics | Comparative Genomic Hybridization | Gene Deletion | Epilepsy - genetics | Gene Rearrangement - genetics | Calcium Channels - genetics | Mental illness | Epilepsy
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Nail-Patella Syndrome: Clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneity
by Ghoumid, Jamal and Petit, Florence and Holder-Espinasse, Muriel and Jourdain, Anne-Sophie and Guerra, José and Dieux-Coeslier, Anne and Figeac, Martin and Porchet, Nicole and Manouvrier-Hanu, Sylvie and Escande, Fabienne
European journal of human genetics : EJHG, ISSN 1018-4813, 01/2016, Volume 24, Issue 1, pp. 44 - 50
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Nephritis, Hereditary - pathology | Exons | Humans | Middle Aged | Child, Preschool | Male | Genes, Dominant | Patella - abnormalities | Adult | Female | Child | Ilium - abnormalities | Gene Expression | Scapula - abnormalities | Nails - metabolism | Introns | Nail-Patella Syndrome - genetics | Ocular Hypertension - pathology | Nephritis, Hereditary - genetics | Transcription Factors - genetics | Ilium - metabolism | Scapula - metabolism | Nails - pathology | Sequence Analysis, DNA | Genetic Heterogeneity | Polymorphism, Genetic | Ocular Hypertension - genetics | LIM-Homeodomain Proteins - genetics | Nail-Patella Syndrome - pathology | Phenotype | Patella - metabolism | Adolescent | Glaucoma - pathology | Glaucoma - genetics | Glaucoma | Hypertension | Phenotypes | Dysplasia | Transcription factors | Nail-patella syndrome | Scapula | Homeobox | Hypotheses | Nephropathy | Genetics | Horns | Mutation | Elbow | Deoxyribonucleic acid--DNA | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia
by Plaisancié, Julie and Bailleul‐Forestier, Isabelle and Gaston, Véronique and Vaysse, Fréderic and Lacombe, Didier and Holder‐Espinasse, Muriel and Abramowicz, Marc and Coubes, Christine and Plessis, Ghislaine and Faivre, Laurence and Demeer, Bénédicte and Vincent‐Delorme, Catherine and Dollfus, Hélène and Sigaudy, Sabine and Guillén‐Navarro, Encarna and Verloes, Alain and Jonveaux, Philippe and Martin‐Coignard, Dominique and Colin, Estelle and Bieth, Eric and Calvas, Patrick and Chassaing, Nicolas
American journal of medical genetics. Part A, ISSN 1552-4825, 04/2013, Volume 161, Issue 4, pp. 671 - 678
EDAR | ectodermal dysplasia | WNT10A | EDA | oligodontia | Oligodontia | Ectodermal dysplasia | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Genetic Association Studies | Anodontia - complications | Humans | Molecular Sequence Data | Genotype | Male | Edar Receptor - genetics | Anodontia - genetics | Phenotype | Sequence Alignment | Wnt Proteins - genetics | Ectodermal Dysplasia - complications | Female | Ectodermal Dysplasia - genetics | Mutation | Invisibility | Genetic aspects | Index Medicus | Dysplasia
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability
by Willemsen, Marjolein H and Vallès, Astrid and Kirkels, Laurens A M H and Mastebroek, Mathilde and Olde Loohuis, Nikkie and Kos, Aron and Wissink-Lindhout, Willemijn M and de Brouwer, Arjan P M and Nillesen, Willy M and Pfundt, Rolph and Holder-Espinasse, Muriel and Vallée, Louis and Andrieux, Joris and Coppens-Hofman, Marjolein C and Rensen, Hanneke and Hamel, Ben C J and van Bokhoven, Hans and Aschrafi, Armaz and Kleefstra, Tjitske
Journal of medical genetics, ISSN 0022-2593, 12/2011, Volume 48, Issue 12, pp. 810 - 818
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Neurons - pathology | Oligonucleotide Array Sequence Analysis | Humans | Male | MicroRNAs - metabolism | Neurons - cytology | DNA Copy Number Variations | Intellectual Disability - genetics | Intellectual Disability - metabolism | DNA-Binding Proteins - metabolism | Transfection | Kruppel-Like Transcription Factors - metabolism | Adult | Female | Neurons - metabolism | Chromosomes, Human, Pair 1 - genetics | Chromosome Deletion | Microphthalmia-Associated Transcription Factor - metabolism | Chromosomes, Human, Pair 1 - metabolism | Gene Expression Regulation | Intellectual Disability - pathology | Rats | Gene Dosage | Hippocampus - pathology | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Hippocampus - cytology | Enhancer of Zeste Homolog 2 Protein | Transcription Factors - metabolism | Hippocampus - metabolism | Phenotype | Polycomb Repressive Complex 2 | Animals | Adolescent | MicroRNAs - genetics | Polymorphism, Single Nucleotide | Primary Cell Culture | Dihydrouracil Dehydrogenase (NADP) - metabolism | Kruppel-Like Transcription Factors - genetics | Microphthalmia-Associated Transcription Factor - genetics | Dihydrouracil Dehydrogenase (NADP) - genetics | Genetic aspects | MicroRNA | Research | Mental retardation | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort
by Meester, Josephina A.N and Sukalo, Maja and Schröder, Kim C and Schanze, Denny and Baynam, Gareth and Borck, Guntram and Bramswig, Nuria C and Duman, Duygu and Gilbert‐Dussardier, Brigitte and Holder‐Espinasse, Muriel and Itin, Peter and Johnson, Diana S and Joss, Shelagh and Koillinen, Hannele and McKenzie, Fiona and Morton, Jenny and Nelle, Heike and Reardon, Willie and Roll, Claudia and Salih, Mustafa A and Savarirayan, Ravi and Scurr, Ingrid and Splitt, Miranda and Thompson, Elizabeth and Titheradge, Hannah and Travers, Colm P and Maldergem, Lionel and Whiteford, Margo and Wieczorek, Dagmar and Vandeweyer, Geert and Trembath, Richard and Laer, Lut and Loeys, Bart L and Zenker, Martin and Southgate, Laura and Wuyts, Wim
Human mutation, ISSN 1059-7794, 09/2018, Volume 39, Issue 9, pp. 1246 - 1261
mutation screening | genetics | Adams–Oliver syndrome | Notch signaling | Rho GTPase | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Limb Deformities, Congenital - genetics | Genetic Association Studies | rho GTP-Binding Proteins - genetics | Humans | Scalp Dermatoses - physiopathology | Limb Deformities, Congenital - physiopathology | Male | Receptors, Notch - genetics | Ectodermal Dysplasia - physiopathology | Scalp - physiopathology | Pedigree | Female | Ectodermal Dysplasia - genetics | Mutation | Scalp Dermatoses - genetics | Scalp Dermatoses - congenital | Extremities - physiopathology | Genetic research | Analysis | Genetic screening | Phenotypes | Aplasia | Scalp | Heritability | Skin | Heredity | Genotypes | s
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
10. Full Text Bi-allelic variants in COL3A1 encoding the ligand to GPR56 are associated with cobblestone-like cortical malformation, white matter changes and cerebellar cysts
by Vandervore, Laura and Stouffs, Katrien and Tanyalçin, Ibrahim and Vanderhasselt, Tim and Roelens, Filip and Holder-Espinasse, Muriel and Jørgensen, Agnete and Pepin, Melanie G and Petit, Florence and Khau Van Kien, Philippe and Bahi-Buisson, Nadia and Lissens, Willy and Gheldof, Alexander and Byers, Peter H and Jansen, Anna C
Journal of medical genetics, ISSN 0022-2593, 06/2017, Volume 54, Issue 6, pp. 432 - 440
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Male | Young Adult | Cerebellar Diseases - pathology | Adult | Female | Malformations of Cortical Development - pathology | Child | Cells, Cultured | Exons - genetics | Collagen Type III - genetics | Malformations of Cortical Development - genetics | Fibroblasts - pathology | Mutation - genetics | Cysts - pathology | White Matter - pathology | Exome - genetics | Phenotype | Cerebellar Diseases - genetics | Alleles | Cysts - genetics | Ligands | Receptors, G-Protein-Coupled - genetics | Neuronal migration disorders | Care and treatment | Research | G proteins | Homozygosity | Collagen | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
11. Full Text Tracheal regeneration: Evidence of bone marrow mesenchymal stem cell involvement
by Seguin, Agathe, MD, PhD and Baccari, Sonia, MD and Holder-Espinasse, Muriel, MD, PhD and Bruneval, Patrick, MD and Carpentier, Alain, MD and Taylor, Doris A., PhD and Martinod, Emmanuel, MD, PhD
The Journal of thoracic and cardiovascular surgery, ISSN 0022-5223, 2013, Volume 145, Issue 5, pp. 1297 - 1304.e2
Cardiothoracic Surgery | Cardiac & Cardiovascular Systems | Respiratory System | Life Sciences & Biomedicine | Cardiovascular System & Cardiology | Surgery | Science & Technology | Rabbits | Tissue Engineering - methods | Genes, sry | Cells, Cultured | Prosthesis Implantation - instrumentation | Mesenchymal Stromal Cells - metabolism | In Situ Hybridization, Fluorescence | Male | Green Fluorescent Proteins - genetics | Trachea - metabolism | Prosthesis Design | Tissue Scaffolds | Trachea - pathology | Regeneration | Animals | Transfection | Time Factors | Green Fluorescent Proteins - biosynthesis | Female | Trachea - physiopathology | Stents | Mesenchymal Stem Cell Transplantation | Trachea - surgery | Aorta - transplantation | Physiological aspects | Universities and colleges | Analysis | Stem cells | Index Medicus | Abridged Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
12. Full Text Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review
by Pittaway, James F H and Harrison, Christopher and Rhee, Yumie and Holder-Espinasse, Muriel and Fryer, Alan E and Cundy, Tim and Drake, William M and Irving, Melita D
Orphanet journal of rare diseases, ISSN 1750-1172, 05/2019, Volume 14, Issue 1, pp. 104 - 104
Medicine, Experimental | Osteoporosis | Medical research | Denosumab | Literature reviews
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
13. Full Text Mutations in Endothelin 1 Cause Recessive Auriculocondylar Syndrome and Dominant Isolated Question-Mark Ears
by Gordon, Christopher T and Petit, Florence and Kroisel, Peter M and Jakobsen, Linda and Zechi-Ceide, Roseli Maria and Oufadem, Myriam and Bole-Feysot, Christine and Pruvost, Solenn and Masson, Cécile and Tores, Frédéric and Hieu, Thierry and Nitschké, Patrick and Lindholm, Pernille and Pellerin, Philippe and Guion-Almeida, Maria Leine and Kokitsu-Nakata, Nancy Mizue and Vendramini-Pittoli, Siulan and Munnich, Arnold and Lyonnet, Stanislas and Holder-Espinasse, Muriel and Amiel, Jeanne
American journal of human genetics, ISSN 0002-9297, 12/2013, Volume 93, Issue 6, pp. 1118 - 1125
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Ear Diseases - genetics | Signal Transduction | Ear Diseases - metabolism | Endothelin-1 - genetics | Endothelin-1 - metabolism | Ear - abnormalities | Humans | Molecular Sequence Data | Genotype | Male | Genes, Recessive | Ear Diseases - diagnosis | Phenotype | Sequence Alignment | Genes, Dominant | DNA Mutational Analysis | Pedigree | Female | Mutation | Amino Acid Substitution | Genetic disorders | Gene mutations | Physiological aspects | Genetic research | Research | Phospholipases | Health aspects | Enzymes | Deformation | Peptides | Binding sites | Index Medicus | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights