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Fletta eftir efnisorði "genetics"

Fletta eftir efnisorði "genetics"

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    Factor B Mutation in Monozygotic Twins Discordant for Atypical Hemolytic Uremic Syndrome 
    Aradottir, Sigridur Sunna; Kristoffersson, Ann-Charlotte; Jensson, Brynjar O; Sulem, Patrick; Gong, Henning; Pálsson, Runólfur; Karpman, Diana (2023-05)
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    Genome-wide association study meta-analysis of dizygotic twinning illuminates genetic regulation of female fecundity 
    Mbarek, Hamdi; Gordon, Scott D.; Duffy, David L.; Hubers, Nikki; Mortlock, Sally; Beck, Jeffrey J.; Hottenga, Jouke Jan; Pool, René; Dolan, Conor V.; Actkins, Ky'Era V.; Gerring, Zachary F.; Van Dongen, Jenny; Ehli, Erik A.; Iacono, William G.; Mcgue, Matt; Chasman, Daniel I.; Gallagher, C. Scott; Schilit, Samantha L.P.; Morton, Cynthia C.; Paré, Guillaume; Willemsen, Gonneke; Whiteman, David C.; Olsen, Catherine M.; Derom, Catherine; Vlietinck, Robert; Gudbjartsson, Daniel; Cannon-Albright, Lisa; Krapohl, Eva; Plomin, Robert; Magnusson, Patrik K.E.; Pedersen, Nancy L.; Hysi, Pirro; Mangino, Massimo; Spector, Timothy D.; Palviainen, Teemu; Milaneschi, Yuri; Penninnx, Brenda W.; Campos, Adrian I.; Ong, Ken K.; Perry, John R.B.; Lambalk, Cornelis B.; Kaprio, Jaakko; Ólafsson, Ísleifur; Duroure, Karine; Revenu, Céline; Rentería, Miguel E.; Yengo, Loic; Davis, Lea; Derks, Eske M.; Medland, Sarah E.; Stefansson, Hreinn; Stefánsson, Kári; Del Bene, Filippo; Reversade, Bruno; Montgomery, Grant W.; Boomsma, Dorret I.; Martin, Nicholas G. (2024-01-01)
    STUDY QUESTION: Which genetic factors regulate female propensity for giving birth to spontaneous dizygotic (DZ) twins? SUMMARY ANSWER: We identified four new loci, GNRH1, FSHR, ZFPM1, and IPO8, in addition to previously identified loci, FSHB and SMAD3. ...
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    Molecular genetics of inherited retinal degenerations in Icelandic patients 
    Thorsteinsson, Daniel A.; Stefánsdóttir, Vigdís Fjóla; Eysteinsson, Þór; Thorisdottir, Sigridur; Jónsson, Jón Jóhannes (2021-08)
    The study objective was to delineate the genetics of inherited retinal degenerations (IRDs) in Iceland, a small nation of 364.000 and a genetic isolate. Benefits include delineating novel pathogenic genetic variants and defining genetically homogenous ...
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    Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland 
    Sveinbjornsson, Gardar; Benediktsdóttir, Bára Dís; Sigfússon, Gunnlaugur; Norland, Kristjan; Davidsson, Olafur B.; Thorolfsdottir, Rosa B.; Tragante, Vinicius; Arnadottir, Gudny A.; Jensson, Brynjar O.; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Gudmundsdottir, Hallbera; Ægisdóttir, Hildur Margrét; Fridriksson, Brynjar; Thorgeirsson, Gudmundur; Magnússon, Viðar; Oddsson, Asmundur; Sulem, Patrick; Gudbjartsson, Daniel F.; Holm, Hilma; Arnar, Davíð Ottó; Stefánsson, Kári (2023-07-18)
    Background Long-QT syndrome (LQTS) is a cardiac repolarization abnormality that can lead to sudden cardiac death. The most common causes are rare coding variants in the genes KCNQ1, KCNH2, and SCN5A. The data on LQTS epidemiology are limited, and ...
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    The Sound of Interconnectivity; The European Vasculitis Society 2022 Report 
    Egan, Allyson C.; Kronbichler, Andreas; Neumann, Irmgard; Bettiol, Alessandra; Carlson, Nicholas; Cid, Maria C.; Emmi, Giacomo; Gopaluni, Seerapani; Harper, Lorraine; Hauser, Thomas; Little, Mark A.; Luqmani, Raashid A.; Mahr, Alfred; McClure, Mark; Mohammad, Aladdin J.; Nelveg-Kristensen, Karl Emil; Ohlsson, Sophie; Peh, Chen Au; Rutherford, Matthew; Alamo, Beatriz Sanchez; Scott, Jennifer; Segelmark, Mårten; Smith, Rona M.; Szpirt, Wladimir M.; Tómasson, Gunnar; Trivioli, Giorgio; Vaglio, Augusto; Walsh, Michael; Wester Trejo, Maria; Westman, Kerstin; Bajema, Ingeborg M.; Jayne, David R.W. (2022-08)
    The first European Vasculitis Society (EUVAS) meeting report was published in 2017. Herein, we report on developments in the past 5 years which were greatly influenced by the pandemic. The adaptability to engage virtually, at this critical time in ...