日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Associations between past infectious mononucleosis diagnosis and 47 inflammatory and vascular stress biomarkers

既往传染性单核细胞增多症诊断与47种炎症和血管应激生物标志物之间的关联

Kristjánsson, Ragnar P; Dietz, Jojo Biel-Nielsen; Davíðsson, Ólafur B; Kjerulff, Bertram; Rostgaard, Klaus; Dowsett, Joseph; Søegaard, Signe Holst; Rotbain, Emelie Curovic; Schwinn, Michael; Burgdorf, Kristoffer Sølvsten; Bay, Jakob Thaning; Mikkelsen, Christina; Ullum, Henrik; Brunak, Søren; Sørensen, Erik; Jensen, Bitten Aagaard; Bruun, Mie Topholm; Nyegaard, Mette; Ostrowski, Sisse Rye; Pedersen, Ole Birger; Erikstrup, Christian; Hansen, Thomas Folkmann; Hjalgrim, Henrik

Sequence variant affects GCSAML splicing, mast cell specific proteins, and risk of urticaria

序列变异影响 GCSAML 剪接、肥大细胞特异性蛋白和荨麻疹风险

Ragnar P Kristjansson #, Gudjon R Oskarsson #, Astros Skuladottir, Asmundur Oddsson, Solvi Rognvaldsson, Gardar Sveinbjornsson, Sigrun H Lund, Brynjar O Jensson, Edda L Styrmisdottir, Gisli H Halldorsson, Egil Ferkingstad, Grimur Hjorleifsson Eldjarn, Doruk Beyter, Snædis Kristmundsdottir, Kristinn

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

导致 CYBC1 缺陷的纯合功能丧失突变会引起慢性肉芽肿病

Gudny A Arnadottir, Gudmundur L Norddahl, Steinunn Gudmundsdottir, Arna B Agustsdottir, Snaevar Sigurdsson, Brynjar O Jensson, Kristbjorg Bjarnadottir, Fannar Theodors, Stefania Benonisdottir, Erna V Ivarsdottir, Asmundur Oddsson, Ragnar P Kristjansson, Gerald Sulem, Kristjan F Alexandersson, Thorhi

A rare missense variant in NR1H4 associates with lower cholesterol levels

NR1H4 中一种罕见的错义变异与较低的胆固醇水平有关

Aimee M Deaton, Patrick Sulem, Paul Nioi, Stefania Benonisdottir, Lucas D Ward, Olafur B Davidsson, Socheata Lao, Anna Helgadottir, Fan Fan, Brynjar O Jensson, Gudmundur L Norddahl, Aslaug Jonasdottir, Adalbjorg Jonasdottir, Asgeir Sigurdsson, Ragnar P Kristjansson, Asmundur Oddsson, Gudny A Arnadot

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin.

EPOR 的截断突变导致对促红细胞生成素反应低下,但血红蛋白正常

Oskarsson Gudjon R, Kristjansson Ragnar P, Lee Amy L, Sveinbjornsson Gardar, Magnusson Magnus K, Ivarsdottir Erna V, Benonisdottir Stefania, Oddsson Asmundur, Davidsson Olafur B, Saemundsdottir Jona, Halldorsson Gisli H, Arthur Joseph, Arnadottir Gudny A, Masson Gisli, Jensson Brynjar O, Holm Hilma, Olafsson Isleifur, Onundarson Pall T, Gudbjartsson Daniel F, Norddahl Gudmundur L, Thorsteinsdottir Unnur, Sulem Patrick, Stefansson Kari

Sequence variant at 4q25 near PITX2 associates with appendicitis

位于 4q25 区域 PITX2 基因附近的序列变异与阑尾炎相关

Kristjansson, Ragnar P; Benonisdottir, Stefania; Oddsson, Asmundur; Galesloot, Tessel E; Thorleifsson, Gudmar; Aben, Katja K; Davidsson, Olafur B; Jonsson, Stefan; Arnadottir, Gudny A; Jensson, Brynjar O; Walters, G Bragi; Sigurdsson, Jon K; Sigurdsson, Snaevar; Holm, Hilma; Arnar, David O; Thorgeirsson, Gudmundur; Alexiusdottir, Kristin; Jonsdottir, Ingileif; Thorsteinsdottir, Unnur; Kiemeney, Lambertus A; Jonsson, Thorvaldur; Gudbjartsson, Daniel F; Rafnar, Thorunn; Sulem, Patrick; Stefansson, Kari

Epigenetic and genetic components of height regulation

身高调控的表观遗传和遗传因素

Benonisdottir, Stefania; Oddsson, Asmundur; Helgason, Agnar; Kristjansson, Ragnar P; Sveinbjornsson, Gardar; Oskarsdottir, Arna; Thorleifsson, Gudmar; Davidsson, Olafur B; Arnadottir, Gudny A; Sulem, Gerald; Jensson, Brynjar O; Holm, Hilma; Alexandersson, Kristjan F; Tryggvadottir, Laufey; Walters, G Bragi; Gudjonsson, Sigurjon A; Ward, Lucas D; Sigurdsson, Jon K; Iordache, Paul D; Frigge, Michael L; Rafnar, Thorunn; Kong, Augustine; Masson, Gisli; Helgason, Hannes; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel F; Sulem, Patrick; Stefansson, Kari

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase

与血清肌酸激酶和乳酸脱氢酶水平相关的常见和罕见变异

Kristjansson, Ragnar P; Oddsson, Asmundur; Helgason, Hannes; Sveinbjornsson, Gardar; Arnadottir, Gudny A; Jensson, Brynjar O; Jonasdottir, Aslaug; Jonasdottir, Adalbjorg; Bragi Walters, G; Sulem, Gerald; Oskarsdottir, Arna; Benonisdottir, Stefania; Davidsson, Olafur B; Masson, Gisli; Magnusson, Olafur Th; Holm, Hilma; Sigurdardottir, Olof; Jonsdottir, Ingileif; Eyjolfsson, Gudmundur I; Olafsson, Isleifur; Gudbjartsson, Daniel F; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari

Identification of Common Genetic Variants Influencing Spontaneous Dizygotic Twinning and Female Fertility

影响自发性异卵双胞胎和女性生育力的常见遗传变异的鉴定

Mbarek, Hamdi; Steinberg, Stacy; Nyholt, Dale R; Gordon, Scott D; Miller, Michael B; McRae, Allan F; Hottenga, Jouke Jan; Day, Felix R; Willemsen, Gonneke; de Geus, Eco J; Davies, Gareth E; Martin, Hilary C; Penninx, Brenda W; Jansen, Rick; McAloney, Kerrie; Vink, Jacqueline M; Kaprio, Jaakko; Plomin, Robert; Spector, Tim D; Magnusson, Patrik K; Reversade, Bruno; Harris, R Alan; Aagaard, Kjersti; Kristjansson, Ragnar P; Olafsson, Isleifur; Eyjolfsson, Gudmundur Ingi; Sigurdardottir, Olof; Iacono, William G; Lambalk, Cornelis B; Montgomery, Grant W; McGue, Matt; Ong, Ken K; Perry, John R B; Martin, Nicholas G; Stefánsson, Hreinn; Stefánsson, Kari; Boomsma, Dorret I

'Wanting' and 'liking' skin picking: A validation of the Skin Picking Reward Scale

“想要”和“喜欢”抠皮:抠皮奖励量表的验证

Snorrason, Ivar; Olafsson, Ragnar P; Houghton, David C; Woods, Douglas W; Lee, Han-Joo