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Fletta eftir höfundi "Adalsteinsdottir, Berglind"

Fletta eftir höfundi "Adalsteinsdottir, Berglind"

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    Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers 
    Adalsteinsdottir, Berglind; Burke, Michael; Maron, Barry J; Danielsen, Ragnar; Lopez, Begoña; Díez Martínez, Domingo Francisco Javier; Jarolim, Petr; Seidman, Jonathan; Seidman, Christine E.; Ho, Carolyn Y; Gunnarsson, Gunnar Þ (BMJ, 2020-04-05)
    Objective The myosin-binding protein C (MYBPC3) c.927-2A>G founder mutation accounts for >90% of sarcomeric hypertrophic cardiomyopathy (HCM) in Iceland. This cross-sectional observational study explored the penetrance and phenotypic burden among ...
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    A rare missense mutation in MYH6 associates with non-syndromic coarctation of the aorta 
    Björnsson, Þorsteinn; Þórólfsdóttir, Rósa B.; Sveinbjornsson, Gardar; sulem, patrick; Norðdahl, Guðmundur L.; Helgadóttir, Anna; Grétarsdóttir, Sólveig; Magnusdóttir, Auður; Danielsen, Ragnar; Sigurðsson, Emil Lárus; Adalsteinsdottir, Berglind; Gunnarsson, Sverrir I; Jonsdottir, Ingileif; Arnar, Davíð O.; Helgason, Hróðmar; Gudbjartsson, Tomas; Gudbjartsson, Daniel; Thorsteinsdottir, Unnur; Holm, Hilma; Stefansson, Kari (Oxford University Press (OUP), 2018-03-24)
    Aims Coarctation of the aorta (CoA) accounts for 4-8% of congenital heart defects (CHDs) and confers substantial morbidity despite treatment. It is increasingly recognized as a highly heritable condition. The aim of the study was to search for sequence ...