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Browsing by Author "Jónsson, Jón Jóhannes"

Browsing by Author "Jónsson, Jón Jóhannes"

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    Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017 
    Högnason, Hákon Björn; Stefánsdóttir, Vigdís Fjóla; Þórólfsdóttir, Eirný Þöll; Jónsson, Jón Jóhannes; Björnsson, Hans Tómas (2022-01-04)
    INNGANGUR Formleg erfðaráðgjafareining hefur verið starfrækt á Landspítala við Hringbraut frá árinu 2006. Samhliða hefur áhugi og þörf á erfðalæknisfræði í almennri heilbrigðisþjónustu aukist til muna. Í þessari grein er starfsemi og útkoma erfðarannsókna ...
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    Genetic Subtypes and Outcome of Patients Aged 1 to 45 Years Old With Acute Lymphoblastic Leukemia in the NOPHO ALL2008 Trial 
    Norén-Nyström, Ulrika; Andersen, Mette K; Barbany, Gisela; Dirse, Vaidas; Eilert-Olsen, Martine; Engvall, Marie; Harila-Saari, Arja; Heyman, Mats; Hovland, Randi; Häikiö, Satu; Jónsson, Jón Jóhannes; Karhu, Ritva; Kjeldsen, Eigil; Norberg, Anna; Preiss, Birgitte S; Pulkkinen, Kati; Quist-Paulsen, Petter; Räsänen, Hannele; Schmiegelow, Kjeld; Seitsonen, Anne; Sjögren, Helene; Tammur, Pille; Johansson, Bertil (2023-05-04)
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    Lyfjaþolinn háþrýstingur – hjáhnoðuæxli : Sjúkratilfelli. 
    Jonsson, Krister Blaer; Guðmundsson, Eiríkur Orri; Sigurðardóttir, Margrét; Jónsson, Jón Jóhannes; Sigurjónsdóttir, Helga Ágústa (2023-03-01)
    Ágrip Fjallað er um karlmann með þriggja áratuga sögu um lyfjaþolinn háþrýsting, svitaköst, hjartsláttaróþægindi og járnbragð í munni. Þrátt fyrir endurteknar komur á bráðamóttöku og uppvinnslu á göngudeild var undirliggjandi orsök ekki greind. Síðustu ...
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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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    Monoamine oxidase A activity in fibroblasts as a functional confirmation of MAOA variants 
    Peters, Tessa M.A.; Lammerts van Bueren, Irma; Geurtz, Ben P.B.H.; Coene, Karlien L.M.; de Leeuw, Nicole; Brunner, Han G.; Jónsson, Jón Jóhannes; Willemsen, Michèl A.A.P.; Wevers, Ron A.; Verbeek, Marcel M. (2020-12-28)
    Monoamine oxidase A (MAO‐A) deficiency is a rare inborn error of metabolism with impaired degradation of biogenic amines including 5‐hydroxytryptamine (5‐HT), resulting in borderline intellectual disability and behavioral abnormalities. Genetic variants ...
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    A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome 
    Klemenzdottir, Elin Ola; Arnadottir, Gudny A; Jensson, Brynjar Orn; Jonasdottir, Adalbjorg; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Gudjonsson, Sigurjon Axel; Jónsson, Jón Jóhannes; Stefánsdóttir, Vigdís Fjóla; Danielsen, Ragnar; Palsdottir, Astridur; Jonsson, Hakon; Helgason, Agnar Sturla; Magnusson, Olafur Thor; Thorsteinsdottir, Unnur; Björnsson, Hans Tómas; Stefansson, Kari; Sulem, Patrick (2023)
    Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is caused by variants in the FBN1 gene. To explore causes of MFS and the prevalence of the disease in Iceland ...