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 (35) 35
life sciences & biomedicine (33) 33
humans (23) 23
genetics & heredity (18) 18
female (17) 17
male (15) 15
mutation (15) 15
adult (12) 12
child (10) 10
child, preschool (9) 9
genes (9) 9
pedigree (8) 8
phenotypes (8) 8
proteins (8) 8
analysis (6) 6
gene mutations (6) 6
genetic aspects (6) 6
infant (6) 6
adolescent (5) 5
biochemistry & molecular biology (5) 5
genotype & phenotype (5) 5
iran (5) 5
middle aged (5) 5
phenotype (5) 5
research (5) 5
alleles (4) 4
animals (4) 4
cell biology (4) 4
fibroblasts (4) 4
genetic research (4) 4
health aspects (4) 4
homozygote (4) 4
infant, newborn (4) 4
original (4) 4
young adult (4) 4
age (3) 3
allergy (3) 3
calcium (3) 3
cancer (3) 3
case report (3) 3
developmental disabilities - genetics (3) 3
fibroblasts - metabolism (3) 3
gene (3) 3
immunology (3) 3
k562 cells (3) 3
leukemia (3) 3
medical genetics (3) 3
medicin och hälsovetenskap (3) 3
medicine & public health (3) 3
microcephaly (3) 3
neurosciences (3) 3
oncology (3) 3
original article (3) 3
patients (3) 3
polymerase chain reaction (3) 3
risk factors (3) 3
[sdv]life sciences [q-bio] (2) 2
abnormalities, multiple - genetics (2) 2
abridged index medicus (2) 2
aged (2) 2
algorithms (2) 2
arthrogryposis (2) 2
autosomal recessive (2) 2
basic medicine (2) 2
bioinformatics (2) 2
bone dysplasia (2) 2
brain (2) 2
breast cancer (2) 2
care and treatment (2) 2
causes of (2) 2
chondroitin (2) 2
cleft palate (2) 2
clinical neurology (2) 2
colorectal cancer (2) 2
complications and side effects (2) 2
consanguinity (2) 2
data processing (2) 2
deoxyribonucleic acid--dna (2) 2
developmental disabilities - pathology (2) 2
diagnosis (2) 2
disease models, animal (2) 2
disorders (2) 2
dna sequencing (2) 2
epilepsy (2) 2
fusion proteins, bcr-abl - metabolism (2) 2
gad1 (2) 2
gene deletion (2) 2
gene expression profiling (2) 2
genetic analysis (2) 2
genetics (2) 2
genomes (2) 2
genomics (2) 2
genotype (2) 2
glycosaminoglycans (2) 2
growth hormones (2) 2
growth-plate (2) 2
head trauma (2) 2
hematologic neoplasms - pathology (2) 2
hematology (2) 2
heparan-sulfate proteoglycans (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


1. Full Text Hereditary thrombophilia genetic variants in recurrent pregnancy loss
by Ahangari, Najmeh and Doosti, Mohammad and Mousavifar, Nezhat and Attaran, Matin and Shahrokhzadeh, Sima and Memarpour, Sara and Ghayoor Karimiani, Ehsan
Archives of gynecology and obstetrics, ISSN 0932-0067, 9/2019, Volume 300, Issue 3, pp. 777 - 782
Obstetrics/Perinatology/Midwifery | Human Genetics | Thrombophilia | Variants | Medicine & Public Health | Recurrent pregnancy loss | Gynecology | MTHFR | Endocrinology | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Thrombophilia - genetics | Genetic Predisposition to Disease | Abortion, Habitual - epidemiology | Gene Frequency | Humans | Genotype | Mutation - genetics | Thrombophilia - complications | Polymorphism, Genetic | Pregnancy | Iran | Methylenetetrahydrofolate Reductase (NADPH2) - genetics | Abortion, Habitual - genetics | Alleles | Polymerase Chain Reaction | Adult | Female | Women | Medical colleges | Gene mutations | Pregnant women | Genetic research | Nucleotide sequencing | Health aspects | Obstetrics | DNA sequencing | Statistical analysis | Genes | Thrombosis | Risk factors | Medicine | Studies | Polymerase chain reaction | Proteins | Genetic counseling | Reproductive system | Mutation | Miscarriage | Age | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
2. Full Text Common KRAS and NRAS gene mutations in sporadic colorectal cancer in Northeastern Iranian patients
by Hamzehzadeh, Leila and Khadangi, Fatemeh and Ghayoor Karimiani, Ehsan and Pasdar, Alireza and Kerachian, Mohammad Amin
Current problems in cancer, ISSN 0147-0272, 11/2018, Volume 42, Issue 6, pp. 572 - 581
Northeastern Iran | NRAS | KRAS | Mutation | Colorectal cancer | Life Sciences & Biomedicine | Oncology | Science & Technology | Epidermal growth factor | Codon | Gene mutations | Analysis | Genes | Genetic research | Genetic aspects | Glycine | Cancer
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
3. Full Text The report of two cases with multiple sulfatase deficiency resulting from a rare similar gene mutation
by Ashrafzadeh, Farah and Zabolinejad, Naghmeh and Ghayoor Karimiani, Ehsan and Beiraghi Toosi, Mehran and Doniadideh, Nahid and Torabi, Shatila and Razmyar, Mohammad and Sheikh Andalibi, Mohammad S
International journal of dermatology, ISSN 0011-9059, 10/2018, Volume 57, Issue 10, pp. 1242 - 1245
Life Sciences & Biomedicine | Dermatology | Science & Technology | Skin Diseases - etiology | Sulfatases - genetics | Multiple Sulfatase Deficiency Disease - complications | Humans | Child, Preschool | Female | Infant | Male | Mutation, Missense | Multiple Sulfatase Deficiency Disease - genetics | Gene mutations | Genetic aspects | Point mutation | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
4. Full Text SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
by Dubail, Johanne and Huber, C. line and Chantepie, Sanine and Sonntag, Stephan and Tüysüz, Beyhan and Mihci, Ercan and Gordon, Christopher T and Steichen-Gersdorf, Elisabeth and Amiel, Jeanne and Nur, Banu and Stolte-Dijkstra, Irene and van Eerde, Albertien M and van Gassen, Koen L and Breugem, Corstiaan C and Stegmann, Alexander and Lekszas, Caroline and Maroofian, Reza and Karimiani, Ehsan Ghayoor and Bruneel, Arnaud and Seta, Nathalie and Munnich, Arnold and Papy-Garcia, Dulce and de la Dure-Molla, Muriel and Cormier-Daire, Valérie
Nature communications, ISSN 2041-1723, 2018, Volume 9, Issue 1, pp. 3087 - 15
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Body Weight | Humans | Cercopithecus aethiops | Child, Preschool | Infant | Amelogenesis Imperfecta - genetics | Bone Diseases, Developmental - genetics | Mice, Knockout | Organic Anion Transporters, Sodium-Dependent - genetics | Exome | Animals | Osteochondrodysplasias - genetics | Symporters - genetics | HEK293 Cells | Electrophoresis | Mice | Mutation | Glycoproteins - chemistry | COS Cells | Child | Disease Models, Animal | Heparan sulfate | Phenotypes | Teeth | Biosynthesis | Glycoproteins | Dislocations | Proteins | Cartilage | Growth plate | Dental enamel | Bone dysplasia | Fibroblasts | Bones | Skeleton | Amelogenesis imperfecta | Transporter | Index Medicus | Life Sciences
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
5. Full Text Study of the mechanisms of crocetin‐induced differentiation and apoptosis in human acute promyelocytic leukemia cells
by Moradzadeh, Maliheh and Ghorbani, Ahmad and Erfanian, Saiedeh and Mohaddes, Seyedeh Tahereh and Rahimi, Hossein and karimiani, Ehsan Ghayoor and Mashkani, Baratali and Chiang, Shih‐Chieh and El‐Khamisy, Sherif F and Tabarraei, Alijan and Sadeghnia, Hamid Reza
Journal of cellular biochemistry, ISSN 0730-2312, 02/2019, Volume 120, Issue 2, pp. 1943 - 1957
crocetin | multidrug resistance | apoptosis | acute promyelocytic leukemia | differentiation | tyrosyl‐DNA phosphodiesterase 1 | tyrosyl-DNA phosphodiesterase 1 | Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Drug resistance in microorganisms | Research | Oncology, Experimental | Cancer | Arsenic compounds | Apoptosis | Cell proliferation | Histone deacetylase | Bax protein | Arsenic | Leukemia | Genes | Clinical trials | AKT protein | CD14 antigen | Anticancer properties | Proteins | Promyeloid leukemia | Inhibition | Deoxyribonucleic acid--DNA | Phosphodiesterase | Tretinoin | CD34 antigen | Medical research | CD11b antigen | Multidrug resistance | Arsenic trioxide | Molecular modelling | Acids | Differentiation | Retinoic acid | Acute promyeloid leukemia
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
6. Full Text Biallelic variants in KIF14 cause intellectual disability with microcephaly
by Makrythanasis, Periklis and Maroofian, Reza and Stray-Pedersen, Asbjørg and Musaev, Damir and Zaki, Maha S and Mahmoud, Iman G and Selim, Laila and Elbadawy, Amera and Jhangiani, Shalini N and Coban Akdemir, Zeynep H and Gambin, Tomasz and Sorte, Hanne S and Heiberg, Arvid and McEvoy-Venneri, Jennifer and James, Kiely N and Stanley, Valentina and Belandres, Denice and Guipponi, Michel and Santoni, Federico A and Ahangari, Najmeh and Tara, Fatemeh and Doosti, Mohammad and Iwaszkiewicz, Justyna and Zoete, Vincent and Backe, Paul Hoff and Hamamy, Hanan and Gleeson, Joseph G and Lupski, James R and Karimiani, Ehsan Ghayoor and Antonarakis, Stylianos E
European journal of human genetics : EJHG, ISSN 1018-4813, 03/2018, Volume 26, Issue 3, pp. 330 - 339
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Oncogene Proteins - genetics | Loss of Function Mutation | Microcephaly - genetics | Oncogene Proteins - chemistry | Humans | Intellectual Disability - pathology | Oncogene Proteins - metabolism | Child, Preschool | Mutation, Missense | Kinesin - chemistry | Syndrome | Intellectual Disability - genetics | Kinesin - metabolism | Phenotype | Pedigree | Microcephaly - pathology | Kinesin - genetics | Protein Domains | Female | Child | Microencephaly | Genetic variability | Intellectual disabilities | Fetuses | Cell division | Lethality | Consanguinity | Localization | Microcephaly | Kinesin | Cancer | Index Medicus
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
7. Full Text Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
by Wagner, Matias and Osborn, Daniel P. S and Gehweiler, Ina and Nagel, Maike and Ulmer, Ulrike and Bakhtiari, Somayeh and Amouri, Rim and Boostani, Reza and Hentati, Faycal and Hockley, Maryam M and Hoelbling, Benedikt and Schwarzmayr, Thomas and Karimiani, Ehsan Ghayoor and Kernstock, Christoph and Maroofian, Reza and Mueller-Felber, Wolfgang and Ozkan, Ege and Padilla-Lopez, Sergio and Reich, Selina and Reichbauer, Jennifer and Darvish, Hossein and Shahmohammadibeni, Neda and Tafakhori, Abbas and Vill, Katharina and Zuchner, Stephan and Kruer, Michael C and Winkelmann, Juliane and Jamshidi, Yalda and Schuele, Rebecca
Nature communications, ISSN 2041-1723, 10/2019, Volume 10, Issue 1, pp. 4790 - 13
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Spastic Paraplegia, Hereditary - genetics | Skin - cytology | Calcium - metabolism | Humans | Middle Aged | Child, Preschool | Endoplasmic Reticulum - metabolism | Male | Spastic Paraplegia, Hereditary - metabolism | Gene Knockdown Techniques | Inositol 1,4,5-Trisphosphate Receptors - metabolism | Adult | Female | Neurons - metabolism | Child | Fibroblasts - metabolism | Signal Transduction | Endoplasmic Reticulum-Associated Degradation - genetics | Zebrafish | Animals | Adolescent | Cell Line, Tumor | High-Throughput Nucleotide Sequencing | Primary Cell Culture | Ubiquitin-Protein Ligases - genetics | Inositol 1,4,5-Trisphosphate - metabolism | Ubiquitin | Cerebellum | Genes | Homeostasis | Degradation | Paraplegia | Receptors | Fibroblasts | Ataxia | Paralysis | Spastic paraplegia | Ubiquitin-protein ligase | Calcium homeostasis | Inositol 1,4,5-trisphosphate receptors | Efflux | Neurodegenerative diseases | Therapeutic applications | Cerebellar ataxia | Paraplegics | Hereditary spastic paraplegia | Calcium efflux | Mutation | Endoplasmic reticulum | Calcium (reticular) | Cytoplasm | Calcium ions | Index Medicus | Diseases of the nervous system | Spinocerebellar ataxia | Medical genetics | Motor neuron disease
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
8. Full Text Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia
by Oosterhof, Nynke and Chang, Irene J and Karimiani, Ehsan Ghayoor and Kuil, Laura E and Jensen, Dana M and Daza, Ray and Young, Erica and Astle, Lee and van der Linde, Herma C and Shivaram, Giridhar M and Demmers, Jeroen and Latimer, Caitlin S and Keene, C. Dirk and Loter, Emily and Maroofian, Reza and van Ham, Tjakko J and Hevner, Robert F and Bennett, James T
American journal of human genetics, ISSN 0002-9297, 05/2019, Volume 104, Issue 5, pp. 936 - 947
CSF1R | osteopetrosis | CUX1 | leukoencephalopathy | zebrafish | agenesis corpus callosum | microglia | neuropathology | axonal spheroids | recessive | To be checked for WOS id | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Microglia - metabolism | Leukoencephalopathies - genetics | Protein-Tyrosine Kinases - metabolism | Homeodomain Proteins - metabolism | Humans | Congenital Abnormalities - etiology | Infant | Young Adult | Protein-Tyrosine Kinases - genetics | Receptors, Granulocyte-Macrophage Colony-Stimulating Factor - genetics | Microglia - pathology | Adult | Child | Infant, Newborn | Repressor Proteins - metabolism | Leukoencephalopathies - pathology | Zebrafish Proteins - metabolism | Repressor Proteins - genetics | Zebrafish | Transcription Factors - genetics | Congenital Abnormalities - pathology | Homeodomain Proteins - genetics | Transcription Factors - metabolism | Homozygote | Phenotype | Animals | Pedigree | Mutation | Zebrafish Proteins - genetics | Genetic aspects | Research | Gene mutations | Pediatric research | Leukoencephalopathy | Risk factors | Index Medicus | Report
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights
9. Full Text Targeted sequencing with expanded gene profile enables high diagnostic yield in non‐5q‐spinal muscular atrophies
by Karakaya, Mert and Storbeck, Markus and Strathmann, Eike A and Delle Vedove, Andrea and Hölker, Irmgard and Altmueller, Janine and Naghiyeva, Leyla and Schmitz‐Steinkrüger, Lea and Vezyroglou, Katharina and Motameny, Susanne and Alawbathani, Salem and Thiele, Holger and Polat, Ayse Ipek and Okur, Derya and Boostani, Reza and Karimiani, Ehsan Ghayoor and Wunderlich, Gilbert and Ardicli, Didem and Topaloglu, Haluk and Kirschner, Janbernd and Schrank, Bertold and Maroofian, Reza and Magnusson, Olafur and Yis, Uluc and Nürnberg, Peter and Heller, Raoul and Wirth, Brunhilde
Human mutation, ISSN 1059-7794, 09/2018, Volume 39, Issue 9, pp. 1284 - 1298
targeted sequencing | spinal muscular atrophy | non‐5q spinal muscular atrophy | high‐throughput screening | gene panel | high-throughput screening | non-5q spinal muscular atrophy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Algorithms | Gene mutations | Analysis | Genes | Genomics | Genetic research | Genomes | Atrophy | Neuromuscular diseases | Mental disorders | Degeneration | Mutation | Gene deletion
Journal Article
Details down arrow
Digital rights down arrow
loading Loading Rights