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Fletta eftir efnisorði "Eggjastokkar"

Fletta eftir efnisorði "Eggjastokkar"

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    The BRCA1 c.4096+3A>G Variant Displays Classical Characteristics of Pathogenic BRCA1 Mutations in Hereditary Breast and Ovarian Cancers, But Still Allows Homozygous Viability 
    Arason, Adalgeir; Agnarsson, Bjarni A.; Jóhannesdóttir, Gudrún; Jóhannsson, Óskar Þór; Hilmarsdóttir, Bylgja; Reynisdóttir, Inga; Barkardottir, Rosa Bjork (MDPI AG, 2019-11-01)
    Mutations in BRCA1 result in predisposal to breast and ovarian cancers, but many variants exist with unknown clinical significance (VUS). One is BRCA1 c.4096+3A>G, which affects production of the full-length BRCA1 transcript, while augmenting transcripts ...
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    Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria 
    Day, Felix; Karaderi, Tugce; Jones, Michelle R.; Meun, Cindy; He, Chunyan; Drong, Alex; Kraft, Peter; Lin, Nan; Huang, Hongyan; Broer, Linda; Magi, Reedik; Saxena, Richa; Laisk, Triin; Urbanek, Margrit; Hayes, M. Geoffrey; Thorleifsson, Gudmar; Fernandez-Tajes, Juan; Mahajan, Anubha; Mullin, Benjamin H.; Stuckey, Bronwyn G. A.; Spector, Timothy D.; Wilson, Scott G.; Goodarzi, Mark O.; Davis, Lea; Obermayer-Pietsch, Barbara; Uitterlinden, André G.; Anttila, Verneri; Neale, Benjamin M.; Jarvelin, Marjo-Riitta; Fauser, Bart; Kowalska, Irina; Visser, Jenny A.; Andersen, Marianne; Ong, Ken; Stener-Victorin, Elisabet; Ehrmann, David; Legro, Richard S.; Salumets, Andres; McCarthy, Mark I.; Morin-Papunen, Laure; Thorsteinsdottir, Unnur; Stefansson, Kari; Styrkarsdottir, Unnur; Perry, John R. B.; Dunaif, Andrea; Laven, Joop; Franks, Steve; Lindgren, Cecilia M.; Welt, Corrine K. (Public Library of Science (PLoS), 2018-12-19)
    Polycystic ovary syndrome (PCOS) is a disorder characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. Affected women frequently have metabolic disturbances including insulin resistance and dysregulation of glucose ...
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    Randomized Noninferiority Trial of Telephone vs In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer: A 12-Month Follow-Up 
    Interrante, Mary K.; Segal, Hannah; Peshkin, Beth N.; Valdimarsdottir, Heiddis; Nusbaum, Rachel; Similuk, Morgan; DeMarco, Tiffani; Hooker, Gillian; Graves, Kristi; Isaacs, Claudine; Wood, Marie; McKinnon, Wendy; Garber, Judy; McCormick, Shelley; Heinzmann, Jessica; Kinney, Anita Y.; Schwartz, Marc D. (Oxford University Press (OUP), 2017-09-01)
    Background: Telephone delivery of genetic counseling is an alternative to in-person genetic counseling because it may extend the reach of genetic counseling. Previous reports have established the noninferiority of telephone counseling on short-term ...
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    Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits 
    Rafnar, Thorunn; Bjarni Gunnarsson; Ólafur A. Stefánsson; sulem, patrick; Ingason, Andrés; Frigge, Michael L.; Lilja Stefánsdóttir; Jón K. Sigurðsson; Tragante, Vinicius; Steinthorsdottir, Valgerdur; Styrkarsdottir, Unnur; Stacey, Simon N.; Gudmundsson, Julius; Arnadottir, Gudny; Oddsson, Asmundur; Zink, Florian; Halldorsson, Gisli; Sveinbjornsson, Gardar; Kristjansson, Ragnar; Ólafur B. Davíðsson; Anna Þórhildur Salvarsdóttir; Ásgeir Thoroddsen; Elísabet A. Helgadottir; Katrín Kristjánsdóttir; Orri Ingþórsson; Valur Guðmundsson; Geirsson, Reynir T.; Ragnheiður Árnadottir; Gudbjartsson, Daniel; Másson, Gísli; Asselbergs, Folkert W.; Jón Gunnlaugur Jónasson; Karl Ólafsson; Thorsteinsdottir, Unnur; Halldórsson, Bjarni; Thorleifsson, Gudmar; Stefansson, Kari (Springer Science and Business Media LLC, 2018-09-07)
    Uterine leiomyomas are common benign tumors of the myometrium. We performed a meta-analysis of two genome-wide association studies of leiomyoma in European women (16,595 cases and 523,330 controls), uncovering 21 variants at 16 loci that associate with ...