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Fletta eftir höfundi "Alexíusdóttir, Kristín"

Fletta eftir höfundi "Alexíusdóttir, Kristín"

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    Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2 
    Haraldsdottir, Sigurdis; Rafnar, Thorunn; Frankel, Wendy L.; Einarsdóttir, Sylvía; Sigurðsson, Ásgeir; Hampel, Heather; Snaebjornsson, Petur; Másson, Gísli; Weng, Daniel; Arngrimsson, Reynir; Kehr, Birte; Yilmaz, Ahmet; Haraldsson, Stefan; sulem, patrick; Stefansson, Tryggvi; Shields, Peter G.; Sigurðsson, Fridbjörn; Bekaii-Saab, Tanios; Moller, Pall H.; Steinarsdóttir, Margrét; Alexíusdóttir, Kristín; Hitchins, Megan; Pritchard, Colin C.; de la Chapelle, Albert; Jónasson, Jón Gunnlaugur; Goldberg, Richard M.; Stefansson, Kari (Springer Nature, 2017-05-03)
    Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch ...
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    Sequence variant at 4q25 near PITX2 associates with appendicitis 
    Kristjansson, Ragnar; Benonisdottir, Stefania; Oddsson, Asmundur; Galesloot, Tessel E.; Þorleifsson, Guðmar; Aben, Katja K.; Davíðsson, Ólafur B.; Jónsson, Stefán; Arnadottir, Gudny; Jensson, Brynjar Örn; Walters, G. Bragi; Sigurðsson, Jón K.; Sigurðsson, Snævar; Holm, Hilma; Arnar, Davíð O.; Thorgeirsson, Gudmundur; Alexíusdóttir, Kristín; Jonsdottir, Ingileif; Thorsteinsdottir, Unnur; Kiemeney, Lambertus A.; Jónsson, Þorvaldur; Gudbjartsson, Daniel; Rafnar, Thorunn; sulem, patrick; Stefansson, Kari (Springer Nature, 2017-06-08)
    Appendicitis is one of the most common conditions requiring acute surgery and can pose a threat to the lives of affected individuals. We performed a genome-wide association study of appendicitis in 7,276 Icelandic and 1,139 Dutch cases and large groups ...