Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Vigdis Stefansdottir"'
Autor:
Haukur Einarsson, Johanna Run Runarsdottir, Thordur Tryggvason, Petur Snaebjornsson, Agnes Smaradottir, Vigdis Stefansdottir, Asgeir Thoroddsen, Reynir Arngrimsson, Jon Gunnlaugur Jonasson, Sigurdis Haraldsdottir
Publikováno v:
Genetics in Medicine. 24:999-1007
Universal screening for Lynch syndrome (LS) on resected colorectal carcinomas (CRCs) and endometrial carcinomas (ECs) was implemented in Iceland in 2017 using immunohistochemistry (IHC) for mismatch repair (MMR) proteins. We examined the efficacy of
Autor:
Francesca, Forzano, Olga, Antonova, Angus, Clarke, Guido, de Wert, Sabine, Hentze, Yalda, Jamshidi, Yves, Moreau, Markus, Perola, Inga, Prokopenko, Andrew, Read, Alexandre, Reymond, Vigdis, Stefansdottir, Carla, van El, Maurizio, Genuardi, Fiona, Ulph
Publikováno v:
European journal of human genetics : EJHG.
Autor:
Patrick Sulem, Gudny Arnadottir, Brynjar Jensson, Adalbjorg Jonasdottir, Hildigunnur Katrinardottir, Run Fridriksdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Sigurjon Gudjonsson, Jon Jonsson, Vigdis Stefansdottir, Ragnar Danielsen, Astridur Palsdottir, Hakon Jonsson, Agnar Helgason, Olafur Magnusson, Unnur Thorsteinsdottir, Hans Björnsson, Kari Stefansson, Elin Klemenzdottir
Marfan syndrome is an autosomal dominant condition characterized by aortic aneurysm, skeletal abnormalities, and lens dislocation, and is caused by mutations in the FBN1 gene. To explore causes of Marfan syndrome and the prevalence in Iceland we coll
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1c8f76013f527db6e8a32fc12d2f342b
https://doi.org/10.21203/rs.3.rs-2085746/v1
https://doi.org/10.21203/rs.3.rs-2085746/v1
Autor:
Kristin Rut Haraldsdottir, Eirny Thorolfsdottir, Vigdis Stefansdottir, Hulda Hjartardottir, Åshild Lunde
Publikováno v:
Journal of Genetic Counseling. 29:644-657
First-trimester combined screening (FTS) has been offered to all pregnant women in Iceland since 2003. Individuals with high-risk FTS results are offered an invasive test option with a ≤1% risk of fetal loss. This study gives insight into the prena
Autor:
Qurratulain Hasan, Heidi C. Howard, Richard Milne, Lauren Robarts, Jack Pollard, Vigdis Stefansdottir, Vera L. Izhevskaya, Cornelia Tandre, Alexandra Soulier, Jerome Atutornu, Virginia Romano, Claire Steed, Megumi Kimura, Jonathan Roberts, Marie Rivière, Peter Goodhand, A. P. Costa, Charlotta Ingvoldstad Malmgren, Go Yoshizawa, Adrian Thorogood, Josepine Fernow, Aleksandra Jędrzejak, Brandi Leach, Torsten Heinemann, Deborah Mascalzoni, Haytham A. Sheerah, Christine Critchley, Anne V. West, Paul Bevan, Shamim Anwer, Emilia Niemiec, Maria Cerezo, Mohamed A. Almarri, Elena E. Baranova, Yali Cong, Keying Liu, Nan Wang, Erika Kleiderman, Christine Patch, Dianne Nicol, Aiko Hibino, Álvaro Mendes, Katherine I. Morley, Cao Jinhong, Gry Houeland, Jusaku Minari, S. Zakir Hussain, James Smith, Anna Middleton, Barbara Prainsack
Publikováno v:
Genome Medicine
Genome Medicine, BioMed Central, 2021, 13, pp.92. ⟨10.1186/s13073-021-00903-0⟩
Genome Medicine, BioMed Central, 2021, 13 (1), ⟨10.1186/s13073-021-00903-0⟩
Genome medicine 13, 92 (2021). doi:10.1186/s13073-021-00903-0
Genome Medicine, Vol 13, Iss 1, Pp 1-12 (2021)
Genome Medicine, BioMed Central, 2021, 13, pp.92. ⟨10.1186/s13073-021-00903-0⟩
Genome Medicine, BioMed Central, 2021, 13 (1), ⟨10.1186/s13073-021-00903-0⟩
Genome medicine 13, 92 (2021). doi:10.1186/s13073-021-00903-0
Genome Medicine, Vol 13, Iss 1, Pp 1-12 (2021)
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
Autor:
Vera L. Izhevskaya, Gry Houeland, Aleksandra Jędrzejak, Dianne Nicol, Deborah Mascalzoni, Jerome Atutornu, Josepine Fernow, Jack Pollard, Alexandra Soulier, Aiko Hibino, Christine Critchley, Jusaku Minari, Erika Kleiderman, Lauren Robarts, Keying Liu, James Smith, Álvaro Mendes, Adrian Thorogood, Shamim Anwer, Heidi Carmen Howard, Cornelia Tandre, Katherine I. Morley, Virginia Romano, Brandi Leach, Torsten Heinemann, Charlotta Ingvoldstad Malmgren, Paul Bevan, Nan Wang, Anne V. West, Jonathan Roberts, Cao Jinhong, Anna Middleton, Vigdis Stefansdottir, Barbara Prainsack, Christine Patch, Peter Goodhand, Haytham A. Sheerah, Go Yoshizawa, S. Zakir Hussain, Mohamed A. Almarri, Yali Cong, Claire Steed, Emilia Niemiec, Qurratulain Hasan, Maria Cerezo, Richard Milne, Elena E. Baranova, Marie Rivière, Megumi Kimura
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2020, ⟨10.1016/j.ajhg.2020.08.023⟩
The American journal of human genetics 107(4), 743-752 (2020). doi:10.1016/j.ajhg.2020.08.023
American Journal of Human Genetics, Elsevier (Cell Press), 2020, ⟨10.1016/j.ajhg.2020.08.023⟩
The American journal of human genetics 107(4), 743-752 (2020). doi:10.1016/j.ajhg.2020.08.023
Analyzing genomic data across populations is central to understanding the role of genetic factors in health and disease. Successful data sharing relies on public support, which requires attention to whether people around the world are willing to dona
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::072c94135fd2d8d37b9ee4804a4866ef
https://hdl.handle.net/11250/2760207
https://hdl.handle.net/11250/2760207
Autor:
Elizabeth C, Page, Elizabeth K, Bancroft, Mark N, Brook, Melissa, Assel, Mona, Hassan Al Battat, Sarah, Thomas, Natalie, Taylor, Anthony, Chamberlain, Jennifer, Pope, Holly Ni, Raghallaigh, D Gareth, Evans, Jeanette, Rothwell, Lovise, Maehle, Eli Marie, Grindedal, Paul, James, Lyon, Mascarenhas, Joanne, McKinley, Lucy, Side, Tessy, Thomas, Christi, van Asperen, Hans, Vasen, Lambertus A, Kiemeney, Janneke, Ringelberg, Thomas Dyrsø, Jensen, Palle J S, Osther, Brian T, Helfand, Elena, Genova, Rogier A, Oldenburg, Cezary, Cybulski, Dominika, Wokolorczyk, Kai-Ren, Ong, Camilla, Huber, Jimmy, Lam, Louise, Taylor, Monica, Salinas, Lidia, Feliubadaló, Jan C, Oosterwijk, Wendy, van Zelst-Stams, Jackie, Cook, Derek J, Rosario, Susan, Domchek, Jacquelyn, Powers, Saundra, Buys, Karen, O'Toole, Margreet G E M, Ausems, Rita K, Schmutzler, Kerstin, Rhiem, Louise, Izatt, Vishakha, Tripathi, Manuel R, Teixeira, Marta, Cardoso, William D, Foulkes, Armen, Aprikian, Heleen, van Randeraad, Rosemarie, Davidson, Mark, Longmuir, Mariëlle W G, Ruijs, Apollonia T J M, Helderman van den Enden, Muriel, Adank, Rachel, Williams, Lesley, Andrews, Declan G, Murphy, Dorothy, Halliday, Lisa, Walker, Annelie, Liljegren, Stefan, Carlsson, Ashraf, Azzabi, Irene, Jobson, Catherine, Morton, Kylie, Shackleton, Katie, Snape, Helen, Hanson, Marion, Harris, Marc, Tischkowitz, Amy, Taylor, Judy, Kirk, Rachel, Susman, Rakefet, Chen-Shtoyerman, Allan, Spigelman, Nicholas, Pachter, Munaza, Ahmed, Teresa, Ramon Y Cajal, Janez, Zgajnar, Carole, Brewer, Neus, Gadea, Angela F, Brady, Theo, van Os, David, Gallagher, Oskar, Johannsson, Alan, Donaldson, Julian, Barwell, Nicola, Nicolai, Eitan, Friedman, Elias, Obeid, Lynn, Greenhalgh, Vedang, Murthy, Lucia, Copakova, Sibel, Saya, John, McGrath, Peter, Cooke, Karina, Rønlund, Kate, Richardson, Alex, Henderson, Soo H, Teo, Banu, Arun, Karin, Kast, Alexander, Dias, Neil K, Aaronson, Audrey, Ardern-Jones, Chris H, Bangma, Elena, Castro, David, Dearnaley, Diana M, Eccles, Karen, Tricker, Jorunn, Eyfjord, Alison, Falconer, Christopher, Foster, Henrik, Gronberg, Freddie C, Hamdy, Vigdis, Stefansdottir, Vincent, Khoo, Geoffrey J, Lindeman, Jan, Lubinski, Karol, Axcrona, Christos, Mikropoulos, Anita, Mitra, Clare, Moynihan, Gadi, Rennert, Mohnish, Suri, Penny, Wilson, Tim, Dudderidge, Judith, Offman, Zsofia, Kote-Jarai, Andrew, Vickers, Hans, Lilja, Rosalind A, Eeles
Publisher's version (útgefin grein).
Background: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with g
Background: Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::041561ac7768dda1598f1ea52243e35e
https://hdl.handle.net/20.500.11815/1523
https://hdl.handle.net/20.500.11815/1523
Autor:
Christine Patch, Sabine Hentze, Eirny Thorolfsdottir, Christophe Cordier, Vigdis Stefansdottir, Álvaro Mendes, Hakon B Hognason, Jon J. Jonsson, Carla G. van El
Publikováno v:
Eur J Hum Genet
Stefansdottir, V, Thorolfsdottir, E, Hognason, H B, Patch, C, van El, C, Hentze, S, Cordier, C, Mendes, Á & Jonsson, J J 2020, ' Web-based return of BRCA2 research results : one-year genetic counselling experience in Iceland ', European Journal of Human Genetics, vol. 28, no. 12, pp. 1656-1661 . https://doi.org/10.1038/s41431-020-0665-1
European Journal of Human Genetics, 28(12), 1656-1661. Nature Publishing Group
Stefansdottir, V, Thorolfsdottir, E, Hognason, H B, Patch, C, van El, C, Hentze, S, Cordier, C, Mendes, Á & Jonsson, J J 2020, ' Web-based return of BRCA2 research results : one-year genetic counselling experience in Iceland ', European Journal of Human Genetics, vol. 28, no. 12, pp. 1656-1661 . https://doi.org/10.1038/s41431-020-0665-1
European Journal of Human Genetics, 28(12), 1656-1661. Nature Publishing Group
There is an increased pressure to return results from research studies. In Iceland, deCODE Genetics has emphasised the importance of returning results to research participants, particularly the founder pathogenic BRCA2 variant; NM_000059.3:c.771_775d
Autor:
Vigdis Stefansdottir, Jon J. Jonsson
Publikováno v:
Annals of clinical biochemistry. 56(6)
Autor:
Gudridur H Olafsdottir, Elinborg J Olafsdottir, Bjarni A. Agnarsson, Hrefna Stefansdottir, Adalgeir Arason, Rodrigo Munoz Mitev, Kristin Alexiusdottir, R B Barkardottir, Jorunn E. Eyfjord, Steven A. Narod, Jon G. Jonasson, Laufey Tryggvadottir, Olafur A. Stefansson, Kristrun Olafsdottir, Vigdis Stefansdottir, Oskar T. Johannsson, Katrin Olafsdottir, Helgi Sigurdsson
Publikováno v:
British Journal of Cancer
Background: The impact of an inherited BRCA2 mutation on the prognosis of women with breast cancer has not been well documented. We studied the effects of oestrogen receptor (ER) status, other prognostic factors and treatments on survival in a large