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Fletta eftir efnisorði "Erfðagreining"

Fletta eftir efnisorði "Erfðagreining"

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    Association of FADS1/2 Locus Variants and Polyunsaturated Fatty Acids With Aortic Stenosis 
    Chen, Hao Yu; Cairns, Benjamin J.; Small, Aeron M.; Burr, Hannah A.; Ambikkumar, Athithan; Martinsson, Andreas; Thériault, Sébastien; Munter, Hans Markus; Steffen, Brian; Zhang, Richard; Levinson, Rebecca T.; Shaffer, Christian M.; Rong, Jian; Sonestedt, Emily; Dufresne, Line; Ljungberg, Johan; Näslund, Ulf; Johansson, Bengt; Ranatunga, Dilrini K.; Whitmer, Rachel A.; Budoff, Matthew J.; Nguyen, Albert; Vasan, Ramachandran S.; Larson, Martin G.; Harris, William S.; Damrauer, Scott M.; Stark, Ken D.; Boekholdt, S. Matthijs; Wareham, Nicholas J.; Pibarot, Philippe; Arsenault, Benoit J.; Mathieu, Patrick; Gudnason, Vilmundur; O’Donnell, Christopher J.; Rotter, Jerome I.; Tsai, Michael Y.; Post, Wendy S.; Clarke, Robert; Söderberg, Stefan; Bossé, Yohan; Wells, Quinn S.; Smith, J. Gustav; Rader, Daniel J.; Lathrop, Mark; Engert, James C.; Thanassoulis, George (American Medical Association (AMA), 2020-06-01)
    Importance: Aortic stenosis (AS) has no approved medical treatment. Identifying etiological pathways for AS could identify pharmacological targets. Objective: To identify novel genetic loci and pathways associated with AS. Design, Setting, and Participants: ...
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    Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 
    Haraldsdottir, Sigurdis; Rafnar, Thorunn; Frankel, Wendy L.; Einarsdóttir, Sylvía; Sigurðsson, Ásgeir; Hampel, Heather; Snaebjornsson, Petur; Másson, Gísli; Weng, Daniel; Arngrimsson, Reynir; Kehr, Birte; Yilmaz, Ahmet; Haraldsson, Stefan; sulem, patrick; Stefansson, Tryggvi; Shields, Peter G.; Sigurðsson, Fridbjörn; Bekaii-Saab, Tanios; Moller, Pall H.; Steinarsdóttir, Margrét; Alexíusdóttir, Kristín; Hitchins, Megan; Pritchard, Colin C.; de la Chapelle, Albert; Jónasson, Jón Gunnlaugur; Goldberg, Richard M.; Stefansson, Kari (Springer Nature, 2017-05-03)
    Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch ...
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    COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA 
    Jensson, Brynjar Örn; Hansdottir, Sif; Arnadottir, Gudny; Sulem, Gerald; Kristjansson, Ragnar; Oddsson, Asmundur; Benonisdottir, Stefania; Jónsson, Hákon; Helgason, Agnar; Sæmundsdóttir, Jóna; Magnússon, Ólafur T.; Másson, Gísli; Thorisson, Gudmundur; Jónasdóttir, Aðalbjörg; Jónasdóttir, Áslaug; Sigurðsson, Ásgeir; Jonsdottir, Ingileif; Pétursdóttir, Vigdís; Kristinsson, Jón R.; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Arngrimsson, Reynir; sulem, patrick; Guðmundsson, Gunnar; Stefansson, Kari (Springer Nature, 2017-11-14)
    Background: Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance. Case ...
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    Differential associations between retinal signs and CMBs by location 
    Qiu, Chengxuan; Ding, Jie; Sigurðsson, Sigurður; Fisher, Diana E.; Zhang, Qian; Eiriksdottir, Gudny; Klein, Ronald; van Buchem, Mark A.; Gudnason, Vilmundur; Cotch, Mary Frances; Launer, Lenore J. (Ovid Technologies (Wolters Kluwer Health), 2017-12-13)
    Objective To test the hypothesis that age-related macular degeneration (AMD) and retinal microvascular signs are differentially associated with lobar and deep cerebral microbleeds (CMBs). Methods CMBs in lobar regions indicate cerebral amyloid ...
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    Genomic Dissection of an Icelandic Epidemic of Respiratory Disease in Horses and Associated Zoonotic Cases 
    Björnsdóttir, Sigríður; Harris, Simon R.; Svansson, Vilhjálmur; Gunnarsson, Eggert; Sigurðardóttir, Ólöf G.; Gammeljord, Kristina; Steward, Karen F.; Newton, J. Richard; Robinson, Carl; Charbonneau, Amelia R. L.; Parkhill, Julian; Holden, Matthew T. G.; Waller, Andrew S. (American Society for Microbiology, 2017-08-01)
    Iceland is free of the major infectious diseases of horses. However, in 2010 an epidemic of respiratory disease of unknown cause spread through the country’s native horse population of 77,000. Microbiological investigations ruled out known viral agents ...
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    Genomic regions controlling shape variation in the first upper molar of the house mouse 
    Pallares, Luisa F; Ledevin, Ronan; Pantalacci, Sophie; Turner, Leslie M; Steingrimsson, Eirikur; Renaud, Sabrina (eLife Sciences Organisation, Ltd., 2017-11-01)
    Numerous loci of large effect have been shown to underlie phenotypic variation between species. However, loci with subtle effects are presumably more frequently involved in microevolutionary processes but have rarely been discovered. We explore the ...
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    Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns 
    Czamara, Darina; Sigurdsson, Engilbert; Stefansson, Kari (Springer Science and Business Media LLC, 2019-06-11)
    Epigenetic processes, including DNA methylation (DNAm), are among the mechanisms allowing integration of genetic and environmental factors to shape cellular function. While many studies have investigated either environmental or genetic contributions ...
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    Origins of the Greenland shark (Somniosus microcephalus): Impacts of ice-olation and introgression 
    Walter, Ryan P.; Roy, Denis; Hussey, Nigel E.; Stelbrink, Björn; Kovacs, Kit M.; Lydersen, Christian; McMeans, Bailey C.; Svavarsson, Jörundur; Kessel, Steven T.; Biton Porsmoguer, Sebastián; Wildes, Sharon; Tribuzio, Cindy A.; Campana, Steven; Petersen, Stephen D.; Grubbs, R. Dean; Heath, Daniel D.; Hedges, Kevin J.; Fisk, Aaron T. (Wiley-Blackwell, 2017-09-08)
    erein, we use genetic data from 277 sleeper sharks to perform coalescent-based modeling to test the hypothesis of early Quaternary emergence of the Greenland shark (Somniosus microcephalus) from ancestral sleeper sharks in the Canadian Arctic-Subarctic ...
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    Profile of common prostate cancer risk variants in an unscreened Romanian population 
    Iordache, Paul; Mates, Dana; Gunnarsson, Bjarni; Eggertsson, Hannes; sulem, patrick; Guðmundsson, Júlíus; Benonisdottir, Stefania; Csiki, Irma Eva; Rascu, Stefan; Radavoi, Daniel; Ursu, Radu; Staicu, Catalin; Calota, Violeta; Voinoiu, Angelica; Jinga, Mariana; Rosoga, Gabriel; Danau, Razvan; Sima, Sorin Cristian; Badescu, Daniel; Suciu, Nicoleta; Radoi, Viorica; Manolescu, Andrei; Rafnar, Thorunn; Halldórsson, Bjarni; Jinga, Viorel; Stefansson, Kari (Wiley, 2017-12-20)
    To find sequence variants affecting prostate cancer (PCA) susceptibility in an unscreened Romanian population we use a genome‐wide association study (GWAS). The study population included 990 unrelated pathologically confirmed PCA cases and 1034 male ...