X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (178) 178
Newspaper Article (30) 30
Publication (29) 29
Book / eBook (6) 6
Book Chapter (1) 1
Book Review (1) 1
Conference Proceeding (1) 1
Reference (1) 1
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (76) 76
mutation (57) 57
medical and health sciences (56) 56
medicin och hälsovetenskap (56) 56
female (55) 55
breast cancer (50) 50
oncology (42) 42
genetic predisposition to disease (41) 41
adult (40) 40
cancer and oncology (36) 36
cancer och onkologi (36) 36
risk factors (36) 36
middle aged (35) 35
skin and connective tissue diseases (35) 35
breast neoplasms - genetics (33) 33
clinical medicine (33) 33
genetics (33) 33
klinisk medicin (33) 33
endocrine system diseases (30) 30
genetics & heredity (28) 28
brca1 (26) 26
cancer (25) 25
heterozygote (25) 25
genetic aspects (24) 24
polymorphism, single nucleotide (24) 24
brca2 (23) 23
male (23) 23
ovarian cancer (23) 23
risk (23) 23
research (22) 22
aged (21) 21
genes, brca1 (21) 21
genes, brca2 (21) 21
alleles (20) 20
brca1 protein (18) 18
brca1 protein - genetics (18) 18
gene mutations (18) 18
genome-wide association (18) 18
medicine (18) 18
ovarian-cancer (18) 18
brca2 protein - genetics (17) 17
brca2 protein (16) 16
genes (16) 16
ovarian neoplasms - genetics (16) 16
genome-wide association study (14) 14
health aspects (14) 14
life sciences (14) 14
population (14) 14
risk assessment (14) 14
breast neoplasms (13) 13
polymorphism (13) 13
variants (13) 13
carriers (12) 12
gene (12) 12
prostate cancer (12) 12
susceptibility (12) 12
consortium (11) 11
genotype (11) 11
pedigree (11) 11
germ-line mutation (10) 10
medicin (10) 10
women (10) 10
adolescent (9) 9
aged, 80 and over (9) 9
basic medicine (9) 9
dna-binding proteins - genetics (9) 9
family (9) 9
genetic modifiers (9) 9
genetic susceptibility (9) 9
investigators (9) 9
loci (9) 9
medical genetics (9) 9
medicinsk genetik (9) 9
medicinska och farmaceutiska grundvetenskaper (9) 9
phenotype (9) 9
association (8) 8
breast-cancer (8) 8
càncer de mama (8) 8
disease (8) 8
epidemiology (8) 8
expression (8) 8
genetic variation (8) 8
polymorphism, single nucleotide - genetics (8) 8
susceptibility loci (8) 8
biochemistry & molecular biology (7) 7
brca1 and brca2 mutation carriers (7) 7
breast neoplasms - epidemiology (7) 7
breast neoplasms - pathology (7) 7
cohort studies (7) 7
estrogen-receptor (7) 7
families & family life (7) 7
genetic predisposition to disease - genetics (7) 7
genomes (7) 7
human genetics (7) 7
identification (7) 7
multidisciplinary sciences (7) 7
physiological aspects (7) 7
prostatic neoplasms - genetics (7) 7
single nucleotide polymorphisms (7) 7
young adult (7) 7
more...
Library Location Library Location
Library Location Library Location
X
Sort by Item Count (A-Z)
Filter by Count
Collection Dvlpm't (Acquisitions) - Vendor file (3) 3
Robarts - Stacks (2) 2
Holland Bloorview Kids Rehabilitation - Stacks (1) 1
Innis College - Stacks (1) 1
New College (Ivey) - Stacks (1) 1
St. Michael's College (John M. Kelly) - 2nd Floor (1) 1
UTL at Downsview - May be requested (1) 1
UofT at Mississauga - Stacks (1) 1
UofT at Scarborough - Stacks (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of clinical oncology, ISSN 1527-7755, 2013, Volume 31, Issue 14, pp. 1748 - 1757
Journal Article
Nature genetics, ISSN 1546-1718, 2011, Volume 43, Issue 9, pp. 879 - 882
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 06/2018, Volume 55, Issue 6, pp. 384 - 394
Journal Article
by McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D'Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and De Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and Donnai, Dian and Donnelly, Deirdre and Donnelly, Carina and Douglas, Angela and Douzgou, Sofia and Duncan, Alexis and Eason, Jacqueline and Ellard, Sian and Ellis, Ian and Elmslie, Frances and Evans, Karenza and Everest, Sarah and Fendick, Tina and Fisher, Richard and Flinter, Frances and Foulds, Nicola and Fry, Andrew and Fryer, Alan and Gardiner, Carol and Gaunt, Lorraine and Ghali, Neeti and ... and Deciphering Developmental Disorders Study
Nature (London), ISSN 1476-4687, 2017, Volume 542, Issue 7642, pp. 433 - 438
The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important... 
INTELLECTUAL DISABILITY | METAANALYSIS | VARIANTS | GENETICS | HEART-DEFECTS | MULTIDISCIPLINARY SCIENCES | GENES | SEQUENCE | FRAMEWORK | DISCOVERY | GENOME | Prevalence | Humans | Middle Aged | Parents | Male | Mi-2 Nucleosome Remodeling and Deacetylase Complex - genetics | Developmental Disabilities - genetics | Casein Kinase II - genetics | Autoantigens - genetics | Young Adult | ras GTPase-Activating Proteins - genetics | Adult | Female | Child | CDC2 Protein Kinase - genetics | Histone-Lysine N-Methyltransferase - genetics | Repressor Proteins - genetics | Sex Characteristics | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Mutation - genetics | Nerve Tissue Proteins - genetics | Sequence Analysis, DNA | Homeodomain Proteins - genetics | DEAD-box RNA Helicases - genetics | Exome - genetics | Phenotype | Myeloid-Lymphoid Leukemia Protein - genetics | Adolescent | Heredity - genetics | Protein Phosphatase 2C - genetics | Cohort Studies | Child development deviations | Genetic aspects | Genetic disorders | Developmental disabilities | Distribution | Genes | Families & family life | Births | Genomes | Mutation | Causality | Estimates | Age | TRIO | MYT1L | EHMT1 | HNRNPU | SUV420H1 | COL4A3BP | SYNGAP1 | PPP2R1A | POGZ | EP300 | KCNH1 | SCN1A | MEF2C | CDKL5 | CSNK2A1 | DYRK1A | CASK | ALG13 | FOXP1 | KAT6B | TBL1XR1 | KAT6A | SCN8A | KCNQ2 | EEF1A2 | KCNQ3 | ADNP | PhenIcons | SET | KMT2A | ANKRD11 | STXBP1 | FOXG1 | ZC4H2 | ITPR1 | De novo mutation | Seizures | ZBTB18 | CREBBP | SMAD4 | PDHA1 | IQSEC2 | AUTS2 | BCL11A | BRAF | SMARCA2 | GRIN2B | MED13L | GNAO1 | CNOT3 | TCF4 | SCN2A | CDK13 | GABRB3 | SETD5 | KDM5B | Developmental Disease | DDX3X | CHD8 | PTEN | CHD4 | TCF20 | CTCF | CHD2 | WDR45 | SLC6A1 | MECP2 | CHAMP1 | KIF1A | Average Faces | MSL3 | PPP2R5D | SMC1A | ARID1B | DNM1 | CNKSR2 | PACS1 | WAC | ZMYND11 | AHDC1 | NFIX | SATB2 | HDAC8 | PPM1D | GNAI1 | PURA | PUF60 | NSD1 | Intellectual Disability | SLC35A2 | DYNC1H1 | NAA10 | USP9X | PTPN11 | GATAD2B | ASXL1 | KANSL1 | ASXL3 | CTNNB1 | QRICH1
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 12/2011, Volume 96, Issue 12, pp. E2009 - E2013
Context: Pheochromocytoma/paraganglioma occurs almost exclusively after paternal transmission of succinate dehydrogenase D (SDHD) mutations. This... 
PARAGANGLIOMA | GENE | ENDOCRINOLOGY & METABOLISM | FAMILIAL PHEOCHROMOCYTOMA | Succinate Dehydrogenase - genetics | DNA Mutational Analysis | Pedigree | Humans | Alleles | Germ-Line Mutation | Female | Male | Pheochromocytoma - genetics | Chromosomes, Human, Pair 11 | Loss of Heterozygosity | Adrenal Gland Neoplasms - genetics
Journal Article
European urology, ISSN 0302-2838, 2015, Volume 68, Issue 2, pp. 186 - 193
Journal Article
by Qian, Frank and Wang, Shengfeng and Mitchell, Jonathan and McGuffog, Lesley and Barrowdale, Daniel and Leslie, Goska and Oosterwijk, Jan C and Chung, Wendy K and Evans, D Gareth and Engel, Christoph and Kast, Karin and Aalfs, Cora M and Adank, Muriel A and Adlard, Julian and Agnarsson, Bjarni A and Aittomäki, Kristiina and Alducci, Elisa and Andrulis, Irene L and Arun, Banu K and Ausems, Margreet G E M and Azzollini, Jacopo and Barouk-Simonet, Emmanuelle and Barwell, Julian and Belotti, Muriel and Benitez, Javier and Berger, Andreas and Borg, Ake and Bradbury, Angela R and Brunet, Joan and Buys, Saundra S and Caldes, Trinidad and Caligo, Maria A and Campbell, Ian and Caputo, Sandrine M and Chiquette, Jocelyne and Claes, Kathleen B M and Margriet Collée, J and Couch, Fergus J and Coupier, Isabelle and Daly, Mary B and Davidson, Rosemarie and Diez, Orland and Domchek, Susan M and Donaldson, Alan and Dorfling, Cecilia M and Eeles, Ros and Feliubadaló, Lidia and Foretova, Lenka and Fowler, Jeffrey and Friedman, Eitan and Frost, Debra and Ganz, Patricia A and Garber, Judy and Garcia-Barberan, Vanesa and Glendon, Gord and Godwin, Andrew K and Gómez Garcia, Encarna B and Gronwald, Jacek and Hahnen, Eric and Hamann, Ute and Henderson, Alex and Hendricks, Carolyn B and Hopper, John L and Hulick, Peter J and Imyanitov, Evgeny N and Isaacs, Claudine and Izatt, Louise and Izquierdo, Ángel and Jakubowska, Anna and Kaczmarek, Katarzyna and Kang, Eunyoung and Karlan, Beth Y and Kets, Carolien M and Kim, Sung-Won and Kim, Zisun and Kwong, Ava and Laitman, Yael and Lasset, Christine and Hyuk Lee, Min and Won Lee, Jong and Lee, Jihyoun and Lester, Jenny and Lesueur, Fabienne and Loud, Jennifer T and Lubinski, Jan and Mebirouk, Noura and Meijers-Heijboer, Hanne E J and Meindl, Alfons and Miller, Austin and Montagna, Marco and Mooij, Thea M and Morrison, Patrick J and Mouret-Fourme, Emmanuelle and Nathanson, Katherine L and Neuhausen, Susan L and Nevanlinna, Heli and Niederacher, Dieter and Nielsen, Finn C and Nussbaum, Robert L and Offit, Kenneth and ... and HEBON and GEMO Study Collaborators and EMBRACE
JNCI : Journal of the National Cancer Institute, ISSN 1460-2105, 2019, Volume 111, Issue 4, pp. 350 - 364
Journal Article
by Bojesen, Stig E and Pooley, Karen A and Johnatty, Sharon E and Beesley, Jonathan and Michailidou, Kyriaki and Tyrer, Jonathan P and Edwards, Stacey L and Pickett, Hilda A and Shen, Howard C and Smart, Chanel E and Hillman, Kristine M and Mai, Phuong L and Lawrenson, Kate and Stutz, Michael D and Lu, Yi and Karevan, Rod and Woods, Nicholas and Johnston, Rebecca L and French, Juliet D and Chen, Xiaoqing and Weischer, Maren and Nielsen, Sune F and Maranian, Melanie J and Ghoussaini, Maya and Ahmed, Shahana and Baynes, Caroline and Bolla, Manjeet K and Wang, Qin and Dennis, Joe and McGuffog, Lesley and Barrowdale, Daniel and Lee, Anew and Healey, Sue and Lush, Michael and Tessier, Daniel C and Vincent, Daniel and Bacot, Françis and Vergote, Ignace and Lambrechts, Sanina and Despierre, Evelyn and Risch, Harvey A and González-Neira, Anna and Rossing, Mary Anne and Pita, Guillermo and Doherty, Jennifer A and Alvarez, Nuria and Larson, Melissa C and Fridley, Brooke L and Schoof, Nils and Chang-Claude, Jenny and Cicek, Mine S and Peto, Julian and Kalli, Kimberly R and Broeks, Annegien and Armasu, Sebastian M and Schmidt, Marjanka K and Braaf, Linde M and Winterhoff, Boris and Nevanlinna, Heli and Konecny, Gottfried E and Lambrechts, Diether and Rogmann, Lisa and Guénel, Pascal and Teoman, Attila and Milne, Roger L and Garcia, Joaquin J and Cox, Angela and Shridhar, Vijayalakshmi and Burwinkel, Barbara and Marme, Frederik and Hein, Rebecca and Sawyer, Elinor J and Haiman, Christopher A and Wang-Gohrke, Shan and Anulis, Irene L and Moysich, Kirsten B and Hopper, John L and Odunsi, Kunle and Lindblom, Annika and Giles, Graham G and Brenner, Hermann and Simard, Jacques and Lurie, Galina and Fasching, Peter A and Carney, Michael E and Radice, Paolo and Wilkens, Lynne R and Swerdlow, Anthony and Goodman, Marc T and Brauch, Hiltrud and Garcia-Closas, Montserrat and Hillemanns, Peter and Winqvist, Robert and Dürst, Matthias and Devilee, Peter and Runnebaum, Ingo and Jakubowska, Anna and Lubinski, Jan and Mannermaa, Arto and Butzow, Ralf and ... and Gene Environm Interactimi Breast and Kathleen Cuningham Fdn Consortium and Australian Ovarian Canc Study and Epidemiological Study BRCA1 and Hereditary Breast Ovarian Canc Res and Genetic Modifiers Canc Risk BRCA1 and Australian Canc Study and Swedish Breast Canc Study SWE-BRCA and The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) and Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) and Gene Environment Interaction and Breast Cancer (GENICA) and Swedish Breast Cancer Study (SWE-BRCA) and Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE) and Australian Ovarian Cancer Study and Australian Cancer Study and Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab)
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 4, pp. 371 - 384
Journal Article