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Browsing by Subject "Syndrome"

Browsing by Subject "Syndrome"

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    Heilkenni afturkræfs æðasamdráttar í heilaæðum – ein helsta ástæða endurtekins þrumuhöfuðverkjar 
    Sveinsson, Ólafur Árni; Love, Áskell; Vilmarsson, Vilhjálmur; Ólafsson, Ingvar Hákon (2020-02)
    Heilkenni afturkræfs æðasamdráttar í heilaæðum (RCVS) einkennist af skyndilegum svæsnum höfuðverk (þrumuhöfuðverk) og þrengingu heilaæða, með eða án staðbundinna taugaeinkenna. Sjúkdómurinn er þrefalt algengari meðal kvenna og meðalaldurinn er um 45 ...
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    Heilkenni skammvinns höfuðverkjar með brottfallseinkennum og eitilfrumuhækkun í mænuvökva – tvö tilfelli og yfirlit 
    Kristjansson, Helgi; Sveinsson, Ólafur Árni (2021-02)
    Ágrip Hér er lýst tveimur tilfellum af HaNDL (Headache with Neurological Deficits and cerebrospinal fluid Lymphocytosis) eða heilkenni skammvinns höfuðverkjar með brottfallseinkennum og eitilfrumuhækkun í mænuvökva. Fyrra tilfellið var þrítugur maður ...
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    Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2 
    Reynisdottir, Tinna; Anderson, Kimberley Jade; Boukas, Leandros; Bjornsson, Hans Tomas (2022-06-21)
    Wiedemann-Steiner syndrome (WDSTS) is a neurodevelopmental disorder caused by de novo variants in KMT2A, which encodes a multi-domain histone methyltransferase. To gain insight into the currently unknown pathogenesis of WDSTS, we examined the spatial ...
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    Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene 
    Árnadóttir, Guðný Anna; Oddsson, Asmundur; Jensson, Brynjar O.; Gisladottir, Svanborg; Simon, Mariella T.; Arnthorsson, Asgeir O.; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Ivarsdottir, Erna V.; Jonasdottir, Adalbjorg; Jonasdottir, Aslaug; Barrick, Rebekah; Saemundsdottir, Jona; le Roux, Louise; Oskarsson, Gudjon R.; Ásmundsson, Jurate; Steffensen, Þóra Steinunn; Gudmundsson, Kjartan R.; Ludvigsson, Petur; Jonsson, Jon J.; Masson, Gisli; Jonsdottir, Ingileif; Holm, Hilma; Jonasson, Jon G.; Magnusson, Olafur Th; Thorarensen, Olafur; Abdenur, Jose; Norddahl, Gudmundur L.; Gudbjartsson, Daniel F.; Bjornsson, Hans T.; Þorsteinsdóttir, Unnur; Sulem, Patrick; Stefánsson, Kári (2022-02-04)
    Predicting the pathogenicity of biallelic missense variants can be challenging. Here, we use a deficit of observed homozygous carriers of missense variants, versus an expected number in a set of 153,054 chip-genotyped Icelanders, to identify potentially ...