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Fletta eftir höfundi "Stefánsdóttir, Vigdís Fjóla"

Fletta eftir höfundi "Stefánsdóttir, Vigdís Fjóla"

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    Aukin notkun á erfðaheilbrigðisþjónustu á Íslandi árin 2012-2017 
    Högnason, Hákon Björn; Stefánsdóttir, Vigdís Fjóla; Þórólfsdóttir, Eirný Þöll; Jónsson, Jón Jóhannes; Björnsson, Hans Tómas (2022-01-04)
    INNGANGUR Formleg erfðaráðgjafareining hefur verið starfrækt á Landspítala við Hringbraut frá árinu 2006. Samhliða hefur áhugi og þörf á erfðalæknisfræði í almennri heilbrigðisþjónustu aukist til muna. Í þessari grein er starfsemi og útkoma erfðarannsókna ...
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    Demonstrating trustworthiness when collecting and sharing genomic data : public views across 22 countries 
    Milne, Richard; Morley, Katherine I.; Almarri, Mohamed A.; Anwer, Shamim; Atutornu, Jerome; Baranova, Elena E.; Bevan, Paul; Cerezo, Maria; Cong, Yali; Costa, Alessia; Critchley, Christine; Fernow, Josepine; Goodhand, Peter; Hasan, Qurratulain; Hibino, Aiko; Houeland, Gry; Howard, Heidi C.; Hussain, S. Zakir; Malmgren, Charlotta Ingvoldstad; Izhevskaya, Vera L.; Jędrzejak, Aleksandra; Jinhong, Cao; Kimura, Megumi; Kleiderman, Erika; Leach, Brandi; Liu, Keying; Mascalzoni, Deborah; Mendes, Álvaro; Minari, Jusaku; Nicol, Dianne; Niemiec, Emilia; Patch, Christine; Pollard, Jack; Prainsack, Barbara; Rivière, Marie; Robarts, Lauren; Roberts, Jonathan; Romano, Virginia; Sheerah, Haytham A.; Smith, James; Soulier, Alexandra; Steed, Claire; Stefánsdóttir, Vigdís Fjóla; Tandre, Cornelia; Thorogood, Adrian; Voigt, Torsten H.; Wang, Nan; West, Anne V.; Yoshizawa, Go; Middleton, Anna (2021-12)
    Background: Public trust is central to the collection of genomic and health data and the sustainability of genomic research. To merit trust, those involved in collecting and sharing data need to demonstrate they are trustworthy. However, it is unclear ...
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    Molecular genetics of inherited retinal degenerations in Icelandic patients 
    Thorsteinsson, Daniel A.; Stefánsdóttir, Vigdís Fjóla; Eysteinsson, Þór; Thorisdottir, Sigridur; Jónsson, Jón Jóhannes (2021-08)
    The study objective was to delineate the genetics of inherited retinal degenerations (IRDs) in Iceland, a small nation of 364.000 and a genetic isolate. Benefits include delineating novel pathogenic genetic variants and defining genetically homogenous ...
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    A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome 
    Klemenzdottir, Elin Ola; Arnadottir, Gudny A; Jensson, Brynjar Orn; Jonasdottir, Adalbjorg; Katrinardottir, Hildigunnur; Fridriksdottir, Run; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Gudjonsson, Sigurjon Axel; Jónsson, Jón Jóhannes; Stefánsdóttir, Vigdís Fjóla; Danielsen, Ragnar; Palsdottir, Astridur; Jonsson, Hakon; Helgason, Agnar Sturla; Magnusson, Olafur Thor; Thorsteinsdottir, Unnur; Björnsson, Hans Tómas; Stefansson, Kari; Sulem, Patrick (2023)
    Marfan syndrome (MFS) is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is caused by variants in the FBN1 gene. To explore causes of MFS and the prevalence of the disease in Iceland ...
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    Return of genomic results does not motivate intent to participate in research for all : Perspectives across 22 countries 
    Milne, Richard; Morley, Katherine I; Almarri, Mohamed A; Atutornu, Jerome; Baranova, Elena E; Bevan, Paul; Cerezo, Maria; Cong, Yali; Costa, Alessia; Feijao, Carolina; de Freitas, Cláudia; Fernow, Josepine; Goodhand, Peter; Hasan, Qurratulain; Hibino, Aiko; Houeland, Gry; Howard, Heidi C; Hussain Sheikh, Zakir; Malmgren, Charlotta Ingvoldstad; Izhevskaya, Vera L; Jędrzejak, Aleksandra; Jinhong, Cao; Kimura, Megumi; Kleiderman, Erika; Liu, Keying; Mascalzoni, Deborah; Mendes, Álvaro; Minari, Jusaku; Nicol, Dianne; Niemiec, Emilia; Patch, Christine; Prainsack, Barbara; Rivière, Marie; Robarts, Lauren; Roberts, Jonathan; Romano, Virginia; Sheerah, Haytham A; Smith, James; Soulier, Alexandra; Steed, Claire; Stefánsdóttir, Vigdís Fjóla; Tandre, Cornelia; Thorogood, Adrian; Voigt, Torsten H; Wang, Nan; Yoshizawa, Go; Middleton, Anna (2022-05)
    PURPOSE: The aim of this study was to determine how attitudes toward the return of genomic research results vary internationally. METHODS: We analyzed the "Your DNA, Your Say" online survey of public perspectives on genomic data sharing including ...
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    The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice 
    Forzano, Francesca; Antonova, Olga; Clarke, Angus; de Wert, Guido; Hentze, Sabine; Jamshidi, Yalda; Moreau, Yves; Perola, Markus; Prokopenko, Inga; Read, Andrew; Reymond, Alexandre; Stefánsdóttir, Vigdís Fjóla; van El, Carla; Genuardi, Maurizio; Peterlin, Borut; Oliveira, Carla; Writzl, Karin; Houge, Gunnar Douzgos; Cordier, Christophe; Howard, Heidi; Macek, Milan; Melegh, Béla; Mendes, Alvaro; Radojkovic, Dragica; Rial-Sebbag, Emmanuelle; Ulph, Fiona; Jamshidi, Yalda (2022-05)
    Y Polygenic risk score analyses on embryos (PGT-P) are being marketed by some private testing companies to parents using in vitro fertilisation as being useful in selecting the embryos that carry the least risk of disease in later life. It appears that ...