Search Results

Linkage of osteoporosis to chromosome 20p12 and association to BMP2

by Styrkarsdottir, Unnur, Cazier, Jean-Baptiste, Kong, Augustine, Rolfsson, Ottar, Larsen, Helene, Bjarnadottir, Emma, Johannsdottir, Vala D, Sigurdardottir, Margret S, Bagger, Yu, Christiansen, Claus, Reynisdottir, Inga, Grant, Struan F A, Jonasson, Kristjan, Frigge, Michael L, Gulcher, Jeffrey R, Sigurdsson, Gunnar, Stefansson, Kari
Published in PLoS Biology (2007)

A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration)

by Fossdal, Ragnheidur, Jonasson, Fridbert, Kristjansdottir, Gudlaug T, Kong, Augustine, Stefansson, Hreinn, Gosh, Shyamali, Gulcher, Jeffrey R, Stefansson, Kari
Published in Human Molecular Genetics (2004)

Blöðrunýrnasjúkdómur með ríkjandi erfðamáta á Íslandi : erfðafræðileg rannsókn

by Ragnheiður Fossdal, Magnús Böðvarsson, Páll G. Ásmundsson, Jóhann Ragnarsson, Runólfur Pálsson
Published 2009

Mild haemophilia A in Iceland: clinical genetic studies of three families with the same mutation

by Jensson, O, Stenbjerg Bernvil, S, Jonsdottir, S, Ingerslev, J
Published in Journal of Internal Medicine (2011)

Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population.

by Gudnason, V, Sigurdsson, G, Nissen, H, Humphries, SE
Published 1997

Linkage study of the D5 dopamine receptor gene (DRD5) in multiplex Icelandic and English schizophrenia pedigrees.

by Kalsi, G, Sherrington, R, Mankoo, BS, Brynjolfsson, J, Sigmundsson, T, Curtis, D, Read, T, Murphy, P, Butler, R, Petursson, H, Gurling, HM
Published 1996

The BARD1 Cys557Ser variant and breast cancer risk in Iceland.

by Stacey, Simon N, Sulem, Patrick, Johannsson, Oskar T, Helgason, Agnar, Gudmundsson, Julius, Kostic, Jelena P, Kristjansson, Kristleifur, Jonsdottir, Thora, Sigurdsson, Helgi, Hrafnkelsson, Jon, Johannsson, Jakob, Sveinsson, Thorarinn, Myrdal, Gardar, Grimsson, Hlynur Niels, Bergthorsson, Jon T, Amundadottir, Laufey T, Gulcher, Jeffrey R, Thorsteinsdottir, Unnur, Kong, Augustine, Stefansson, Kari
Published in PLoS Medicine (2009)

Population-based study of changing breast cancer risk in Icelandic BRCA2 mutation carriers, 1920-2000

by Tryggvadottir, Laufey, Sigvaldason, Helgi, Olafsdottir, Gudridur H, Jonasson, Jon G, Jonsson, Thorvaldur, Tulinius, Hrafn, Eyfjörd, Jorunn E
Published in JNCI: Journal of the National Cancer Institute (2006)

Variant of TREM2 associated with the risk of Alzheimer's disease.

by Jonsson, Thorlakur, Stefansson, Hreinn, Steinberg, Stacy, Jonsdottir, Ingileif, Jonsson, Palmi V, Snaedal, Jon, Bjornsson, Sigurbjorn, Huttenlocher, Johanna, Levey, Allan I, Lah, James J, Rujescu, Dan, Hampel, Harald, Giegling, Ina, Andreassen, Ole A, Engedal, Knut, Ulstein, Ingun, Djurovic, Srdjan, Ibrahim-Verbaas, Carla, Hofman, Albert, Ikram, M Arfan, van Duijn, Cornelia M, Thorsteinsdottir, Unnur, Kong, Augustine, Stefansson, Kari
Published in New England Journal of Medicine (2013)

Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype

by Gudmundsson, J, Johannesdottir, G, Arason, A, Bergthorsson, J T, Ingvarsson, S, Egilsson, V, Barkardottir, R B
Published 2010

Linkage study of the D5 dopamine receptor gene (DRD5) in multiplex Icelandic and English schizophrenia pedigrees

by Kalsi, G, Sherrington, R, Mankoo, B S, Brynjolfsson, J, Sigmundsson, T, Curtis, D, Read, T, Murphy, P, Butler, R, Petursson, H, Gurling, H M
Published 2011

Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.

by Thorleifsson, Gudmar, Holm, Hilma, Edvardsson, Vidar, Walters, G Bragi, Styrkarsdottir, Unnur, Gudbjartsson, Daniel F, Sulem, Patrick, Halldorsson, Bjarni V, de Vegt, Femmie, d'Ancona, Frank C H, den Heijer, Martin, Franzson, Leifur, Christiansen, Claus, Alexandersen, Peter, Rafnar, Thorunn, Kristjansson, Kristleifur, Sigurdsson, Gunnar, Kiemeney, Lambertus A, Bodvarsson, Magnus, Indridason, Olafur S, Palsson, Runolfur, Kong, Augustine, Thorsteinsdottir, Unnur, Stefansson, Kari
Published in Nature Genetics (2009)

Increased frequency of C4B*Q0 alleles in patients with Henoch-Schönlein purpura

by Stefansson Thors, V, Kolka, R, Sigurdardottir, S L, Edvardsson, V O, Arason, G, Haraldsson, A
Published in Scandinavian Journal of Immunology (2005)

2,8-dihydroxyadeninuria: are there no cases in Scandinavia?

by Arnadottir, Margret, Laxdal, Throstur, Halldorsdottir, Bergljot
Published in Scandinavian Journal of Urology and Nephrology (2005)

Identification of low-frequency variants associated with gout and serum uric acid levels.

by Sulem, Patrick, Gudbjartsson, Daniel F, Walters, G Bragi, Helgadottir, Hafdis T, Helgason, Agnar, Gudjonsson, Sigurjon A, Zanon, Carlo, Besenbacher, Soren, Bjornsdottir, Gyda, Magnusson, Olafur T, Magnusson, Gisli, Hjartarson, Eirikur, Saemundsdottir, Jona, Gylfason, Arnaldur, Jonasdottir, Adalbjorg, Holm, Hilma, Karason, Ari, Rafnar, Thorunn, Stefansson, Hreinn, Andreassen, Ole A, Pedersen, Jesper H, Pack, Allan I, de Visser, Marieke C H, Kiemeney, Lambertus A, Geirsson, Arni J, Eyjolfsson, Gudmundur I, Olafsson, Isleifur, Kong, Augustine, Masson, Gisli, Jonsson, Helgi, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Stefansson, Kari
Published in Nature Genetics (2012)

Parallel evolution of Pitx1 underlies pelvic reduction in Scottish threespine stickleback (Gasterosteus aculeatus).

by Coyle, Susan M, Huntingford, Felicity A, Peichel, Catherine L
Published 2007

Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.

by Jakobsdottir, Johanna, van der Lee, Sven J, Bis, Joshua C, Chouraki, Vincent, Li-Kroeger, David, Yamamoto, Shinya, Grove, Megan L, Naj, Adam, Vronskaya, Maria, Salazar, Jose L, DeStefano, Anita L, Brody, Jennifer A, Smith, Albert V, Amin, Najaf, Sims, Rebecca, Ibrahim-Verbaas, Carla A, Choi, Seung-Hoan, Satizabal, Claudia L, Lopez, Oscar L, Beiser, Alexa, Ikram, M Arfan, Garcia, Melissa E, Hayward, Caroline, Varga, Tibor V, Ripatti, Samuli, Franks, Paul W, Hallmans, Göran, Rolandsson, Olov, Jansson, Jan-Håkon, Porteous, David J, Salomaa, Veikko, Eiriksdottir, Gudny, Rice, Kenneth M, Bellen, Hugo J, Levy, Daniel, Uitterlinden, Andre G, Emilsson, Valur, Rotter, Jerome I, Aspelund, Thor, Cohorts for Heart and Aging Research in Genomic Epidemiology consortium, Alzheimer’s Disease Genetic Consortium, Genetic and Environmental Risk in Alzheimer’s Disease consortium, O'Donnell, Christopher J, Fitzpatrick, Annette L, Launer, Lenore J, Hofman, Albert, Wang, Li-San, Williams, Julie, Schellenberg, Gerard D, Boerwinkle, Eric, Psaty, Bruce M, Seshadri, Sudha, Shulman, Joshua M, Gudnason, Vilmundur, van Duijn, Cornelia M
Published 2016

A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer.

by Gudmundsson, Julius, Sulem, Patrick, Gudbjartsson, Daniel F, Masson, Gisli, Agnarsson, Bjarni A, Benediktsdottir, Kristrun R, Sigurdsson, Asgeir, Magnusson, Olafur Th, Gudjonsson, Sigurjon A, Magnusdottir, Droplaug N, Johannsdottir, Hrefna, Helgadottir, Hafdis Th, Stacey, Simon N, Jonasdottir, Adalbjorg, Olafsdottir, Stefania B, Thorleifsson, Gudmar, Jonasson, Jon G, Tryggvadottir, Laufey, Navarrete, Sebastian, Fuertes, Fernando, Helfand, Brian T, Hu, Qiaoyan, Csiki, Irma E, Mates, Ioan N, Jinga, Viorel, Aben, Katja K H, van Oort, Inge M, Vermeulen, Sita H, Donovan, Jenny L, Hamdy, Freddy C, Ng, Chi-Fai, Chiu, Peter K F, Lau, Kin-Mang, Ng, Maggie C Y, Gulcher, Jeffrey R, Kong, Augustine, Catalona, William J, Mayordomo, Jose I, Einarsson, Gudmundur V, Barkardottir, Rosa B, Jonsson, Eirikur, Mates, Dana, Neal, David E, Kiemeney, Lambertus A, Thorsteinsdottir, Unnur, Rafnar, Thorunn, Stefansson, Kari
Published in Nature Genetics (2013)

RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability.

by Heikkinen, Katri, Rapakko, Katrin, Karppinen, Sanna-Maria, Erkko, Hannele, Knuutila, Sakari, Lundán, Tuija, Mannermaa, Arto, Børresen-Dale, Anne-Lise, Borg, Ake, Barkardottir, Rosa B, Petrini, John, Winqvist, Robert
Published in Carcinogenesis (2008)

2,8- díhýdroxýadenínúría

by Þröstur Laxdal
Published 2009