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921 research outcomes, page 1 of 93
  • publication . Article . Other literature type . 2013
    Open Access English
    Authors:
    Montserrat Garcia-Closas; Fergus J. Couch; Kyriaki Michailidou; Marjanka K. Schmidt; Mark N. Brook; Nick Orr; Suhn K. Rhie; Elio Riboli; Heather Spencer Feigelson; Loic Le Marchand; ...
    Persistent Identifiers
    Project: NIH | Characterizing Genetic Su... (5U01CA098233-06), NIH | Discovery Expansion and R... (5U19CA148065-04), NIH | Breast &prostate cancer &... (1U01CA098216-01), NIH | Genetic epidemiology of c... (3R01CA122340-03S1), EC | COGS (223175), NIH | Characterizing Genetic Su... (5U01CA098710-06), NIH | Breast &Prostate Cancer &... (1U01CA098758-01), WT , CIHR

    Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (E...

  • publication . Article . Other literature type . 2013
    Open Access English
    Authors:
    Maimoona A. Zariwala; Heon Yung Gee; Małgorzata Kurkowiak; Dalal A. Al-Mutairi; Margaret W. Leigh; Toby W. Hurd; Rim Hjeij; Sharon D. Dell; Moumita Chaki; Gerard W. Dougherty; ...
    Persistent Identifiers
    Publisher: The American Society of Human Genetics. Published by Elsevier Inc.
    Project: NIH | Colorado Clinical and Tra... (3UL1TR000154-05S1), NIH | Identifying all Meckel-li... (1RC4DK090917-01), NIH | Genetic Disorder of Mucoc... (5U54HL096458-14), NIH | Novel genetics, pathobiol... (5R01DK068306-13), NIH | Pathogenesis of PCD Lung ... (5R01HL071798-04), WT

    Defects of motile cilia cause primary ciliary dyskinesia (PCD), characterized by recurrent respiratory infections and male infertility. Using whole-exome resequencing and high-throughput mutation analysis, we identified recessive biallelic mutations in ZMYND10 in 14 fam...

  • publication . Article . 2011
    Open Access English
    Authors:
    Mathieu Dehaes; Louis Gagnon; Frédéric Lesage; Mélanie Pélégrini-Issac; Alexandre Vignaud; Romain Valabregue; Reinhard Grebe; Fabrice Wallois; Habib Benali;
    Persistent Identifiers
    Publisher: Optical Society of America
    Project: WT

    International audience; Diffuse optical imaging (DOI) is a non invasive technique allowing the recovery of hemodynamic changes in the brain. Due to the diffusive nature of photon propagation in turbid media and the fact that cerebral tissues are located around 1.5 cm un...

  • publication . Article . 2009
    Open Access English
    Authors:
    Barry A. Chioza; Jean Aicardi; Harald N. Aschauer; Oebele F. Brouwer; Petra M.C. Callenbach; Athanasios Covanis; Joseph M. Dooley; Olivier Dulac; Martina Durner; Orvar Eeg-Olofsson; ...
    Project: WT

    Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy (IGE) characterised by typical absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to the aetiology is wet[ recognised but...

  • publication . Article . 2018
    Open Access English
    Authors:
    Logan, Clare V.; Murray, Jennie E.; Parry, David A.; Robertson, Andrea; Bellelli, Roberto; Tarnauskaitė, Žygimantė; Challis, Rachel; Cleal, Louise; Borel, Valerie; Fluteau, Adeline; ...
    Persistent Identifiers
    Publisher: Elsevier
    Project: NIH | UT Southwestern Center fo... (4UL1TR001105-04), WT | Causes and Consequences o... (210752), EC | GrowCELL (788093), EC | HUMGENSIZE (281847)

    During genome replication, polymerase epsilon (Pol ε) acts as the major leading-strand DNA polymerase. Here we report the identification of biallelic mutations in POLE, encoding the Pol ε catalytic subunit POLE1, in 15 individuals from 12 families. Phenotypically, these...

  • publication . Article . Other literature type . 2016
    Open Access
    Authors:
    Yu-Ching Cheng; Tara M. Stanne; Anne-Katrin Giese; Weang Kee Ho; Matthew Traylor; Philippe Amouyel; Elizabeth G. Holliday; Rainer Malik; Huichun Xu; Steven J. Kittner; ...
    Persistent Identifiers
    Project: NIH | JH/CIDR Genotyping for Ge... (5U01HG004438-04), NIH | COMMUNITY AND COHORT SURV... (N01HC055016-002), NIH | CCSP - FIELD CENTER (N01HC055020-003), NIH | ARIC Neurocognitive Study... (2U01HL096917-05), NIH | CCSP-FIELD CENTER (N01HC055021-011), NIH | Rare variants and NHLBI t... (5R01HL120393-03), NIH | CORONARY HEART DISEASE AN... (N01HC085082-024), WT | A genome wide association... (084724), EC | GEUVADIS (261123), NIH | UCLA Clinical and Transla... (5UL1TR000124-04),...

    Background and Purpose— Although a genetic contribution to ischemic stroke is well recognized, only a handful of stroke loci have been identified by large-scale genetic association studies to date. Hypothesizing that genetic effects might be stronger for early- versus ...

  • publication . Article . 2015
    Open Access English
    Authors:
    Serena Nik-Zainal; Peter Van Loo; David C. Wedge; Ludmil B. Alexandrov; Christopher Greenman; King Wai Lau; Keiran Raine; David T. Jones; John L. Marshall; Manasa Ramakrishna; ...
    Publisher: Cell Press
    Project: EC | BASIS (242006), WT | Wellcome Trust Sanger Ins... (098051), NIH | Dana-Farber/Harvard SPORE... (3P50CA089393-09S4), WT | CHARACTERISATION AND ANAL... (088340)

    Summary Cancer evolves dynamically as clonal expansions supersede one another driven by shifting selective pressures, mutational processes, and disrupted cancer genes. These processes mark the genome, such that a cancer's life history is encrypted in the somatic mutatio...

  • publication . Article . Other literature type . 2019
    Open Access English
    Authors:
    Law, PJ; Timofeeva, M; Fernandez-Rozadilla, C; Broderick, P; Studd, J; Fernandez-Tajes, J; Farrington, S; Svinti, V; Palles, C; Orlando, G; ...
    Persistent Identifiers
    Publisher: Nature Research
    Project: AKA | The Application of 'Omics... (139635), AKA | Genomic epidemiology of a... (265240), UKRI | A genome-wide association... (BB/F019394/1), WT | A national DNA control se... (068545), NIH | Imputation-based approach... (7U01CA188392-03), EC | SYSCOL (258236), EC | NGG (268648), AKA | Finnish Center of Excelle... (250345), NIH | Colon Cancer Family Regis... (4UM1CA167551-04), NIH | Elucidating Loci Involved... (5U19CA148537-02),...

    Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has a strong heritable basis. We report a genome-wide association analysis of 34,627 CRC cases and 71,379 controls of European ancestry that identifies SNPs at 31 new CRC risk loci. We als...

  • publication . Conference object . 2019
    Open Access English
    Authors:
    Vitorino Carvalho, Anais; Gimonnet, Coralie; Hennequet-Antier, Christelle; Piegu, Benoit; Brionne, Aurélien; Crochet, Sabine; Couroussé, Nathalie; Bordeau, Thierry; Lemarchand, Julie; Constantin, Paul; ...
    Project: CIHR , NSERC , NIH | Germline transmission of ... (1R21ES027123-01A1), WT , EC | BLUEPRINT (282510)

    International audience

  • publication . Article . 2009
    Open Access English
    Authors:
    Damian Smedley; Syed Haider; Benoit Ballester; Richard Holland; Darin London; Gudmundur A. Thorisson; Arek Kasprzyk;
    Persistent Identifiers
    Publisher: HAL CCSD
    Project: WT

    Abstract Background Biologists need to perform complex queries, often across a variety of databases. Typically, each data resource provides an advanced query interface, each of which must be learnt by the biologist before they can begin to query them. Frequently, more ...

921 research outcomes, page 1 of 93