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Fletta eftir efnisorði "Genotype"

Fletta eftir efnisorði "Genotype"

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    Characteristics of white blood cell count in acute lymphoblastic leukemia : A COST LEGEND phenotype-genotype study 
    Helenius, Marianne; Vaitkeviciene, Goda; Abrahamsson, Jonas; Jónsson, Ólafur Gisli; Lund, Bendik; Harila-Saari, Arja; Vettenranta, Kim; Mikkel, Sirje; Stanulla, Martin; Lopez-Lopez, Elixabet; Waanders, Esmé; Madsen, Hans O; Marquart, Hanne Vibeke; Modvig, Signe; Gupta, Ramneek; Schmiegelow, Kjeld; Nielsen, Rikke Linnemann (2022-03-22)
    Background: White blood cell count (WBC) as a measure of extramedullary leukemic cell survival is a well-known prognostic factor in acute lymphoblastic leukemia (ALL), but its biology, including impact of host genome variants, is poorly understood. ...
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    Coding and regulatory variants are associated with serum protein levels and disease 
    Emilsson, Valur; Gudmundsdottir, Valborg; Gudjonsson, Alexander; Jonmundsson, Thorarinn; Jonsson, Brynjolfur G; Karim, Mohd A; Ilkov, Marjan; Staley, James R; Gudmundsson, Elias F; Launer, Lenore J; Lindeman, Jan H; Morton, Nicholas M; Aspelund, Thor; Lamb, John R; Jennings, Lori L; Gudnason, Vilmundur (2022-01-25)
    Circulating proteins can be used to diagnose and predict disease-related outcomes. A deep serum proteome survey recently revealed close associations between serum protein networks and common disease. In the current study, 54,469 low-frequency and common ...
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    Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality 
    DBDS Genomic Consortium (2023-06-10)
    Genotypes causing pregnancy loss and perinatal mortality are depleted among living individuals and are therefore difficult to find. To explore genetic causes of recessive lethality, we searched for sequence variants with deficit of homozygosity among ...
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    Genetic Risk Factors in Drug-Induced Liver Injury Due to Isoniazid-Containing Antituberculosis Drug Regimens 
    Nicoletti, Paola; Devarbhavi, Harshad; Goel, Ashish; Venkatesan, Radha; Eapen, Chundamannil E.; Grove, Jane I.; Zafer, Samreen; Björnsson, Einar Stefán; Lucena, M. Isabel; Andrade, Raul J.; Pirmohamed, Munir; Wadelius, Mia; Larrey, Dominique; Maitland-van der Zee, Anke Hilse; Ibanez, Luisa; Watkins, Paul B.; Daly, Ann K.; Aithal, Guruprasad P. (2021-04)
    Drug-induced liver injury (DILI) is a complication of treatment with antituberculosis (TB) drugs, especially in isoniazid (INH)-containing regimens. To investigate genetic risk factors, we performed a genomewide association study (GWAS) involving anti-TB ...
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    A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis 
    DBDS Genomic Consortium; Thorsteinsdottir, Unnur (2021-02-03)
    Iron is essential for many biological functions and iron deficiency and overload have major health implications. We performed a meta-analysis of three genome-wide association studies from Iceland, the UK and Denmark of blood levels of ferritin (N = ...
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    Large-scale plasma proteomics comparisons through genetics and disease associations 
    Eldjarn, Grimur Hjorleifsson; Ferkingstad, Egil; Lund, Sigrun H.; Helgason, Hannes; Magnusson, Olafur Th; Gunnarsdottir, Kristbjorg; Olafsdottir, Thorunn A.; Halldorsson, Bjarni V.; Olason, Pall I.; Zink, Florian; Gudjonsson, Sigurjon A.; Sveinbjornsson, Gardar; Magnusson, Magnus I.; Helgason, Agnar; Oddsson, Asmundur; Halldorsson, Gisli H.; Magnusson, Magnus K.; Sævarsdóttir, Sædís; Eiriksdottir, Thjodbjorg; Masson, Gisli; Stefansson, Hreinn; Jonsdottir, Ingileif; Holm, Hilma; Rafnar, Thorunn; Melsted, Pall; Saemundsdottir, Jona; Norddahl, Gudmundur L.; Thorleifsson, Gudmar; Ulfarsson, Magnus O.; Gudbjartsson, Daniel F.; Thorsteinsdottir, Unnur; Sulem, Patrick; Stefansson, Kari (2023-10-04)
    High-throughput proteomics platforms measuring thousands of proteins in plasma combined with genomic and phenotypic information have the power to bridge the gap between the genome and diseases. Here we performed association studies of Olink Explore ...
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    Phenotypic and genotypic variation in the subtidal gastropod Buccinum undatum 
    Magnúsdóttir, Hildur (Háskóli Íslands, 2020-10)
    Variation in morphology of shelled marine gastropods across small spatial scales may reflect restricted population connectivity, resulting in evolutionary or plastic responses to environmental heterogeneity. Species delimitation of shelled gastropods ...
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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 ...
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    Subclinical intestinal inflammation and sacroiliac changes in relatives of patients with ankylosing spondylitis 
    Bjarnason, Ingvar; Helgason, Kristján Orri; Geirsson, Árni Jón; Sigthorsson, Gudmundur; Reynisdóttir, Inga; Gudbjartsson, Daniel; Einarsdottir, Anna S; Sherwood, Roy; Kristjansson, Kristleifur; Kjartansson, Olafur; Thjodleifsson, Bjarni (2003-12-01)
    BACKGROUND & AIMS: It has been suggested that subclinical intestinal inflammation plays a pathogenic role in the spondylarthropathy of ankylosing spondylitis (AS). We assessed the possible presence and inheritance pattern of subclinical intestinal ...