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Browsing by Author "Ásmundsson, Jurate"

Browsing by Author "Ásmundsson, Jurate"

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    Multifocal Neuroblastoma and Central Hypoventilation in An Infant with Germline ALK F1174I Mutation 
    Djos, Anna; Treis, Diana; Fransson, Susanne; Murkes, Lena Gordon; Wessman, Sandra; Ásmundsson, Jurate; Markstrom, Agneta; Kogner, Per; Martinsson, Tommy (2022-09-19)
    A preterm infant with central hypoventilation was diagnosed with multifocal neuroblastoma. Congenital anomalies of the autonomic nervous system in association with neuroblastoma are commonly associated with germline mutations in PHOX2B. Further, the ...
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    Nýjungar í greiningu og meðferð lungnakrabbameins 
    Harðardóttir, Hrönn; Jónsson, Steinn; Gunnarsson, Örvar; Hilmarsdóttir, Bylgja; Ásmundsson, Jurate; Guðmundsdóttir, Ingibjörg; Sævarsdóttir, Vaka Ýr; Hansdóttir, Sif; Hannesson, Pétur Hörður; Guðbjartsson, Tómas (2022-01-04)
    Lungnakrabbamein er annað algengasta krabbameinið á Íslandi hjá konum og þriðja hjá körlum. Þótt hægt hafi á nýgengi sjúkdómsins á undanförnum árum dregur ekkert krabbamein fleiri Íslendinga til dauða. Einkenni lungnakrabbameins geta verið staðbundin ...
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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 ...