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Sökning: WFRF:(Hellmann Per)

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1.
  • Gunnarsdottir, Guorun Mist, et al. (författare)
  • Endurtekin krampaköst hjá ungri konu : sjúkratilfelli
  • 2016
  • Ingår i: Laeknabladid. - : Laeknabladid/The Icelandic Medical Journal. - 0023-7213. ; 102:7-8, s. 339-342
  • Tidskriftsartikel (refereegranskat)abstract
    • 18 ára hraust stúlka kom endurtekið á slysadeild á 6 vikna tímabili vegna krampakasta. Engin fyrri saga var um flogaveiki og hún tók engin lyf. Myndrannsóknir og heilalínurit bentu ekki til flogaveiki. Hún mældist með lækkaðan blóðsykur í tvígang á slysadeild, 1,3 mmól/L og 1,7 mmól/L (4,0-6,0 mmól/L). Vaknaði þá grunur um insúlínmyndandi æxli. Gerð var víðtæk leit að æxlisvexti sem bar engan árangur. Var hún því send erlendis í frekari uppvinnslu, meðal annars í jáeindaskanna og sérhæfða æðamyndatöku. Hún var að lokum greind með nesidioblastosis. Hér verður fjallað um sjúkratilfellið auk yfirferðar um þennan sjaldgæfa sjúkdóm og uppvinnslu á honum.
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2.
  • Ji, Xuemei, et al. (författare)
  • Protein-altering germline mutations implicate novel genes related to lung cancer development
  • 2020
  • Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 11:1
  • Tidskriftsartikel (refereegranskat)abstract
    • Few germline mutations are known to affect lung cancer risk. We performed analyses of rare variants from 39,146 individuals of European ancestry and investigated gene expression levels in 7,773 samples. We find a large-effect association with an ATM L2307F (rs56009889) mutation in adenocarcinoma for discovery (adjusted Odds Ratio=8.82, P=1.18x10(-15)) and replication (adjusted OR=2.93, P=2.22x10(-3)) that is more pronounced in females (adjusted OR=6.81 and 3.19 and for discovery and replication). We observe an excess loss of heterozygosity in lung tumors among ATM L2307F allele carriers. L2307F is more frequent (4%) among Ashkenazi Jewish populations. We also observe an association in discovery (adjusted OR=2.61, P=7.98x10(-22)) and replication datasets (adjusted OR=1.55, P=0.06) with a loss-of-function mutation, Q4X (rs150665432) of an uncharacterized gene, KIAA0930. Our findings implicate germline genetic variants in ATM with lung cancer susceptibility and suggest KIAA0930 as a novel candidate gene for lung cancer risk. In lung cancer, relatively few germline mutations are known to impact risk. Here the authors looked at rare variants in 39,146 individuals and find novel germline mutations associated with risk, as well as implicating ATM and a new candidate gene for lung cancer risk.
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3.
  • Yamamoto, Shinji, 1969-, et al. (författare)
  • Tumors of the Adrenal Glands
  • 2014
  • Ingår i: Nuclear Oncology. - Philadelphia : Wolters Kluwer. - 9781451186857 - 9781469883496 ; , s. 251-264
  • Bokkapitel (övrigt vetenskapligt/konstnärligt)
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