المؤلفون: Arnadottir, Gudny A, Norddahl, Gudmundur L, Gudmundsdottir, Steinunn, Agustsdottir, Arna B, Sigurdsson, Snaevar, Jensson, Brynjar O, Bjarnadottir, Kristbjorg, Theodors, Fannar, Benonisdottir, Stefania, Ivarsdottir, Erna V, Oddsson, Asmundur, Kristjansson, Ragnar P, Sulem, Gerald, Alexandersson, Kristjan F, Juliusdottir, Thorhildur, Gudmundsson, Kjartan R, Saemundsdottir, Jona, Jonasdottir, Adalbjorg, Jonasdottir, Aslaug, Sigurdsson, Asgeir, Manzanillo, Paolo, Gudjonsson, Sigurjon A, Thorisson, Gudmundur A, Magnusson, Olafur Th, Masson, Gisli, Orvar, Kjartan B, Holm, Hilma, Bjornsson, Sigurdur, Arngrimsson, Reynir, Gudbjartsson, Daniel F, Thorsteinsdottir, Unnur, Jonsdottir, Ingileif, Haraldsson, Asgeir, Sulem, Patrick, Stefansson, Kari

المساهمون: 1 deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. 2 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland. 3 Department of Internal Medicine, Landspitali University Hospital, Reykjavik, Iceland. 4 The Medical Center, Glaesibae, Reykjavik, Iceland. 5 Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland. 6 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 7 Children's Hospital Iceland, Landspitali University Hospital, Reykjavik, Iceland. 8 deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. patrick.sulem@decode.is. 9 deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. kari.stefansson@decode.is. 10 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. kari.stefansson@decode.is.

المصدر: Nature communications

مصطلحات موضوعية: Ónæmiskerfi, Stökkbreytingar, Gen, Granulomatous Disease, Chronic, Immune System Diseases, Mutation

العلاقة: https://www.nature.com/articles/s41467-018-06964-xTest; A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. 2018, 9(1):4447 Nat Commun; http://hdl.handle.net/2336/620759Test; Nature communications

الإتاحة: https://doi.org/10.1038/s41467-018-06964-xTest
http://hdl.handle.net/2336/620759Test

المؤلفون: Olafsson, Sigurgeir, Stridh, Pernilla, Bos, Steffan Daniël, Ingason, Andres, Euesden, Jack, Sulem, Patrick, Thorleifsson, Gudmar, Gustafsson, Omar, Johannesson, Ari, Geirsson, Arni J., Thorsson, Arni V., Sigurgeirsson, Bardur, Ludviksson, Bjorn Runar, Olafsson, Elias, Kristjansdottir, Helga, Jonasson, Jon G., Olafsson, Jon Hjaltalin, Orvar, Kjartan B., Benediktsson, Rafn, Bjarnason, Ragnar, Kristjansdottir, Sjofn, Gislason, Thorarinn, Valdimarsson, Trausti, Mikaelsdottir, Evgenia, Sigurdsson, Snaevar, Jonsson, Stefan, Rafnar, Thorunn, Aarsland, Dag, Djurovic, Srdjan, Fladby, Tormod, Knudsen, Gun Peggy, Celius, Elisabeth G., Myhr, Kjell-Morten, Grondal, Gerdur, Steinsson, Kristjan, Valdimarsson, Helgi, Bjornsson, Sigurdur, Bjornsdottir, Unnur S., Bjornsson, Einar S, Nilsson, Bjorn, Andreassen, Ole A., Alfredsson, Lars, Hillert, Jan, Kockum, Ingrid Skelton, Masson, Gisli, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Stefansson, Hreinn, Hjaltason, Haukur, Harbo, Hanne F., Olsson, Tomas, Jonsdottir, Ingileif, Stefansson, Kari

المساهمون: 1 deCODE Genet Amgen, Reykjavik, Iceland Show the Organization-Enhanced name(s) 2 Ctr Mol Med, Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden Show the Organization-Enhanced name(s) 3 Univ Oslo, Inst Clin Med, Oslo, Norway Show the Organization-Enhanced name(s) 4 Oslo Univ Hosp, Dept Neurol, Oslo, Norway Show the Organization-Enhanced name(s) 5 Kings Coll London, Inst Psychiat Psychol & Neurosci, MRC Social Genet & Dev Psychiat Ctr, London, England Show the Organization-Enhanced name(s) 6 Univ Bristol, Integrat Epidemiol Unit, Bristol, Avon, England Show the Organization-Enhanced name(s) 7 Natl Univ Hosp Iceland, Landspitali, Dept Med, Reykjavik, Iceland Show the Organization-Enhanced name(s) 8 Natl Univ Hosp Iceland, Landspitali, Ctr Rheumatol Res, Reykjavik, Iceland Show the Organization-Enhanced name(s) 9 Natl Univ Hosp Iceland, Landspitali, Childrens Med Ctr, Reykjavik, Iceland Show the Organization-Enhanced name(s) 10 Univ Iceland, Sch Hlth Sci, Fac Med, Dept Dermatol, Kopavogur, Iceland Show the Organization-Enhanced name(s) 11 Natl Univ Hosp Iceland, Landspitali, Dept Immunol, Reykjavik, Iceland Show the Organization-Enhanced name(s) 12 Univ Iceland, Sch Hlth Sci, Fac Med, Reykjavik, Iceland Show the Organization-Enhanced name(s) 13 Natl Univ Hosp Iceland, Landspitali, Dept Neurol, Reykjavik, Iceland Show the Organization-Enhanced name(s) 14 Natl Univ Hosp Iceland, Landspitali, Dept Pathol, Reykjavik, Iceland 15 Med Ctr, Reykjavik, Iceland Show the Organization-Enhanced name(s) 16 Natl Univ Hosp Iceland, Landspitali, Dept Endocrinol & Metab Med, Reykjavik, Iceland Show the Organization-Enhanced name(s) 17 Natl Univ Hosp Iceland, Landspitali, Dept Resp Med & Sleep, Reykjavik, Iceland 18 West Iceland Healthcare Ctr, Dept Med, Akranes, Iceland Show the Organization-Enhanced name(s) 19 Kings Coll London, Inst Psychiat Psychol & Neurosci, Dept Old Age Psychiat, London, England 20 Stavanger Univ Hosp, Div Psychiat, Stavanger, Norway Show the Organization-Enhanced name(s) 21 Oslo Univ Hosp, Dept Med Genet, Oslo, Norway Show the Organization-Enhanced name(s) 22 Akershus Univ Hosp, Dept Neurol, Lorenskog, Norway Show the Organization-Enhanced name(s) 23 Norwegian Inst Publ Hlth, Oslo, Norway Show the Organization-Enhanced name(s) 24 Univ Oslo, Hosp Ulleval, Dept Neurol, Oslo, Norway Show the Organization-Enhanced name(s) 25 Univ Oslo, Fac Med, Inst Hlth & Soc, Oslo, Norway Show the Organization-Enhanced name(s) 26 Univ Bergen, Dept Clin Med, Bergen, Norway Show the Organization-Enhanced name(s) 27 Haukeland Hosp, Norwegian MS Registry & Biobank, Dept Neurol, Bergen, Norway Show the Organization-Enhanced name(s) 28 Natl Univ Hosp Iceland, Landspitali, Dept Rheumatol, Reykjavik, Iceland 29 BMC, Dept Lab Med Hematol & Transfus Med, Lund, Sweden Show the Organization-Enhanced name(s) 30 Oslo Univ Hosp, KG Jebsen Ctr Psychosis Res, NORMENT, Div Mental Hlth & Addict, Oslo, Norway Show the Organization-Enhanced name(s) 31 Karolinska Inst, Inst Environm Med, Stockholm, Sweden Show the Organization-Enhanced name(s) 32 Stockholm Cty Council, Ctr Occupat & Environm Med, Stockholm, Sweden Show the Organization-Enhanced name(s) 33 Univ Iceland, Sch Engn & Nat Sci, Reykjavik, Iceland

مصطلحات موضوعية: MS sjúkdómur, Gen, RHE12, END12, PAD12, ORT12, EAM12, AAI12, NAF12, NEU12, Multiple Sclerosis, Genome-Wide Association Study, Genes

العلاقة: http://www.nature.com/articles/s41525-017-0027-2Test; Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations 2017, 2 (1) npj Genomic Medicine; http://hdl.handle.net/2336/620345Test; npj Genomic Medicine

الإتاحة: https://doi.org/10.1038/s41525-017-0027-2Test
http://hdl.handle.net/2336/620345Test

المؤلفون: Kristjansson, Ragnar P, Benonisdottir, Stefania, Oddsson, Asmundur, Galesloot, Tessel E, Thorleifsson, Gudmar, Aben, Katja K, Davidsson, Olafur B, Jonsson, Stefan, Arnadottir, Gudny A, Jensson, Brynjar O, Walters, G Bragi, Sigurdsson, Jon K, Sigurdsson, Snaevar, Holm, Hilma, Arnar, David O, Thorgeirsson, Gudmundur, Alexiusdottir, Kristin, Jonsdottir, Ingileif, Thorsteinsdottir, Unnur, Kiemeney, Lambertus A, Jonsson, Thorvaldur, Gudbjartsson, Daniel F, Rafnar, Thorunn, Sulem, Patrick, Stefansson, Kari

المساهمون: deCODE genetics/Amgen, Inc, Reykjavik, 101, Iceland. ragnarpk@decode.is. 2 deCODE genetics/Amgen, Inc, Reykjavik, 101, Iceland. 3 Radboud University Medical Center, Radboud Institute for Health Sciences, Department for Health Evidence, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. 4 Netherlands Comprehensive Cancer Organisation, PO Box 19079, 3501 DB, Utrecht, The Netherlands. 5 Department of Medicine, Landspítali - The National University Hospital of Iceland, Hringbraut, 101, Reykjavik, Iceland. 6 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. 7 Department of Surgery, Landspítali - The National University Hospital of Iceland, Hringbraut, 101, Reykjavik, Iceland. 8 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland. 9 deCODE genetics/Amgen, Inc, Reykjavik, 101, Iceland. kari.stefansson@decode.is. 10 Faculty of Medicine, University of Iceland, Reykjavik, Iceland. kari.stefansson@decode.is.

مصطلحات موضوعية: Botnlangabólga, Gen, CAR12, ONC12, Appendicitis, Genome-Wide Association Study

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5465083/pdf/41598_2017_Article_3353.pdfTest; Sequence variant at 4q25 near PITX2 associates with appendicitis. 2017, 7 (1):3119 Sci Rep; http://hdl.handle.net/2336/620253Test; Scientific reports

الإتاحة: https://doi.org/10.1038/s41598-017-03353-0Test
http://hdl.handle.net/2336/620253Test

المؤلفون: Kirby, Andrew, Gnirke, Andreas, Jaffe, David B., Baresova, Veronika, Pochet, Nathalie, Blumenstiel, Brendan, Ye, Chun, Aird, Daniel, Stevens, Christine, Robinson, James T., Cabili, Moran N., Gat-Viks, Irit, Kelliher, Edward, Daza, Riza, DeFelice, Matthew, Hulkova, Helena, Sovova, Jana, Vylet'al, Petr, Antignac, Corinne, Guttman, Mitchell, Handsaker, Robert E., Perrin, Danielle, Steelman, Scott, Sigurdsson, Snaevar, Scheinman, Steven J., Sougnez, Carrie, Cibulskis, Kristian, Parkin, Melissa, Green, Todd, Rossin, Elizabeth, Zody, Michael C., Xavier, Ramnik J., Pollak, Martin R., Alper, Seth L., Lindblad-Toh, Kerstin, Gabriel, Stacey B., Hart, P. Suzanne, Regev, Aviv, Nusbaum, Chad, Kmoch, Stanislav, Bleyer, Anthony J., Daly, Mark J., Lander, Eric Steven

المساهمون: Massachusetts Institute of Technology. Department of Biology, Regev, Aviv, Lander, Eric S.

المصدر: Regev via Courtney Crummett

وصف الملف: application/pdf

العلاقة: http://dx.doi.org/10.1038/ng.2543Test; Nature Genetics; http://hdl.handle.net/1721.1/80712Test; Kirby, Andrew, Andreas Gnirke, David B Jaffe, Veronika Barešová, Nathalie Pochet, Brendan Blumenstiel, Chun Ye, et al. “Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.” Nature Genetics 45, no. 3 (February 10, 2013): 299-303.; orcid:0000-0001-8567-2049

الإتاحة: https://doi.org/10.1038/ng.2543Test
http://hdl.handle.net/1721.1/80712Test

المؤلفون: Sandling, Johanna K, Garnier, Sophie, Sigurdsson, Snaevar, Wang, Chuan, Nordmark, Gunnel, Gunnarsson, Iva, Svenungsson, Elisabet, Padyukov, Leonid, Sturfelt, Gunnar, Jönsen, Andreas, Bengtsson, Anders A, Truedsson, Lennart, Eriksson, Catharina, Rantapää-Dahlqvist, Solbritt, Mälarstig, Anders, Strawbridge, Rona J., Hamsten, Anders, Criswell, Lindsey A, Graham, Robert R, Behrens, Timothy W, Eloranta, Maija-Leena, Alm, Gunnar, Rönnblom, Lars, Syvänen, Ann-Christine

وصف الملف: text

العلاقة: http://eprints.gla.ac.uk/141294/1/141294.pdfTest; Sandling, J. K. et al. (2011) A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE. European Journal of Human Genetics , 19(4), pp. 479-484. (doi:10.1038/ejhg.2010.197 ) (PMID:21179067) (PMCID:PMC3060320)

الإتاحة: https://doi.org/10.1038/ejhg.2010.197Test
http://eprints.gla.ac.uk/141294Test/
http://eprints.gla.ac.uk/141294/1/141294.pdfTest

المؤلفون: Syvänen, Ann-Christine, Sandling, Johanna K, Garnier, Sophie, Sigurdsson, Snaevar, Wang, Chuan, Nordmark, Gunnel, Gunnarsson, Iva, Svenungsson, Elisabet, Padyukov, Leonid, Sturfelt, Gunnar, Jönsen, Andreas, Bengtsson, Anders, Truedsson, Lennart, Eriksson, Catharina, Rantapää-Dahlqvist, Solbritt, Mälarstig, Anders, Strawbridge, Rona Juliette, Hamsten, Anders, Criswell, Lindsey A, Graham, Robert R, Behrens, Timothy, Eloranta, Maija-Leena, Alm, Gunnar, Rönnblom, Lars

المساهمون: Department of Medical Sciences

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: candidate gene study, type I interferon system, systemic lupus erythematosus

العلاقة: hal-00602289; https://hal.archives-ouvertes.fr/hal-00602289Test; https://hal.archives-ouvertes.fr/hal-00602289/documentTest; https://hal.archives-ouvertes.fr/hal-00602289/file/PEER_stage2_10.1038%252Fejhg.2010.197.pdfTest

الإتاحة: https://doi.org/10.1038/ejhg.2010.197Test
https://hal.archives-ouvertes.fr/hal-00602289Test
https://hal.archives-ouvertes.fr/hal-00602289/documentTest
https://hal.archives-ouvertes.fr/hal-00602289/file/PEER_stage2_10.1038%252Fejhg.2010.197.pdfTest

المؤلفون: Olafsson, Sigurgeir, Stridh, Pernilla, Bos, Steffan Daniël, Ingason, Andres, Euesden, Jack, Sulem, Patrick, Thorleifsson, Gudmar, Gustafsson, Omar, Johannesson, Ari, Geirsson, Arni J., Thorsson, Arni V., Sigurgeirsson, Bardur, Ludviksson, Bjorn Runar, Olafsson, Elias, Kristjansdottir, Helga, Jonasson, Jon G., Olafsson, Jon Hjaltalin, Orvar, Kjartan B., Benediktsson, Rafn, Bjarnason, Ragnar, Kristjansdottir, Sjofn, Gislason, Thorarinn, Valdimarsson, Trausti, Mikaelsdottir, Evgenia, Sigurdsson, Snaevar, Jonsson, Stefan, Rafnar, Thorunn, Aarsland, Dag, Djurovic, Srdjan, Fladby, Tormod, Knudsen, Gun Peggy, Celius, Elisabeth G., Myhr, Kjell Morten, Grondal, Gerdur, Steinsson, Kristjan, Valdimarsson, Helgi, Bjornsson, Sigurdur, Bjornsdottir, Unnur S., Bjornsson, Einar S., Nilsson, Bjorn, Andreassen, Ole A., Alfredsson, Lars, Hillert, Jan, Kockum, Ingrid Skelton, Masson, Gisli, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F., Stefansson, Hreinn, Hjaltason, Haukur, Harbo, Hanne F., Olsson, Tomas, Jonsdottir, Ingileif, Stefansson, Kari

المصدر: npj Genomic Medicine; 2(1), no 24 (2017) ; ISSN: 2056-7944

مصطلحات موضوعية: Medical Genetics

العلاقة: https://lup.lub.lu.se/record/e7a61e6b-fa4d-41f2-a091-9e246e6a4b36Test; http://dx.doi.org/10.1038/s41525-017-0027-2Test; scopus:85042299417; pmid:29263835

الإتاحة: https://doi.org/10.1038/s41525-017-0027-2Test
https://lup.lub.lu.se/record/e7a61e6b-fa4d-41f2-a091-9e246e6a4b36Test

المؤلفون: Ivarsdottir, Erna V, Steinthorsdottir, Valgerdur, Daneshpour, Maryam S, Thorleifsson, Gudmar, Sulem, Patrick, Holm, Hilma, Sigurdsson, Snaevar, Hreidarsson, Astradur B, Sigurdsson, Gunnar, Bjarnason, Ragnar, Thorsson, Arni V, Benediktsson, Rafn, Eyjolfsson, Gudmundur, Sigurdardottir, Olof, Olafsson, Isleifur, Zeinali, Sirous, Azizi, Fereidoun, Thorsteinsdottir, Unnur, Gudbjartsson, Daniel F, Stefansson, Kari

المساهمون: 1 deCODE Genetics/Amgen, Inc., Reykjavik, Iceland. 2 School of Engineering and Natural Sciences, University of Iceland, Reykjavik, Iceland. 3 Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran. 4 Department of Endocrinology and Metabolic Medicine, Landspitali, National University Hospital of Iceland, Reykjavik, Iceland. 5 Children's Medical Center, Landspitali, National University Hospital of Iceland, Reykjavik, Iceland. 6 Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland. 7 Laboratory in Mjodd, RAM, Reykjavik, Iceland. 8 Department of Clinical Biochemistry, Akureyri Hospital, Akureyri, Iceland. 9 Department of Clinical Biochemistry, Landspitali, National University Hospital of Iceland, Reykjavik, Iceland. 10 Iranian Molecular Medicine Network, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran. 11 Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

مصطلحات موضوعية: Sykursýki, Gen, END12, PED12, MAB12, Genetic Association Studies, Blood Glucose, Diabetes Mellitus, Type 2

العلاقة: https://www.nature.com/ng/journal/v49/n9/pdf/ng.3928.pdfTest; Effect of sequence variants on variance in glucose levels predicts type 2 diabetes risk and accounts for heritability. 2017, 49 (9):1398-1402 Nat. Genet.; http://hdl.handle.net/2336/620311Test; Nature genetics

الإتاحة: https://doi.org/10.1038/ng.3928Test
http://hdl.handle.net/2336/620311Test

المؤلفون: Sandling, Johanna K., Garnier, Sophie, Sigurdsson, Snaevar, Wang, Chuan, Nordmark, Gunnel, Gunnarsson, Iva, Svenungsson, Elisabet, Padyukov, Leonid, Sturfelt, Gunnar, Jönsen, Andreas, Bengtsson, Anders, Truedsson, Lennart, Eriksson, Catharina, Rantapaa-Dahlqvist, Solbritt, Malarstig, Anders, Strawbridge, Rona J., Hamsten, Anders, Criswell, Lindsey A., Graham, Robert R., Behrens, Timothy W., Eloranta, Maija-Leena, Alm, Gunnar, Ronnblom, Lars, Syvanen, Ann-Christine

المصدر: European Journal of Human Genetics; 19(4), pp 479-484 (2011) ; ISSN: 1476-5438

مصطلحات موضوعية: Medical Genetics, systemic lupus erythematosus, type I interferon system, candidate gene, study, single nucleotide polymorphism, IKBKE, IL8

العلاقة: https://lup.lub.lu.se/record/1936264Test; http://dx.doi.org/10.1038/ejhg.2010.197Test; wos:000288505000020; scopus:79952773104

الإتاحة: https://doi.org/10.1038/ejhg.2010.197Test
https://lup.lub.lu.se/record/1936264Test

المؤلفون: Sandling, Johanna, Garnier, Sophie, Sigurdsson, Snaevar, Wang, Chuan, Nordmark, Gunnel, Gunnarsson, Iva, Svenungsson, Elisabet, Padyukov, Leonid, Sturfelt, Gunnar, Jönsen, Andreas, Bengtsson, Anders, Truedsson, Lennart, Eriksson, Catharina, Rantapää-Dahlqvist, Solbritt, Mälarstig, Anders, Strawbridge, Rona, Hamsten, Anders, Criswell, Lindsey, Graham, Robert, Behrens, Timothy, Eloranta, Maija-Leena, Alm, Gunnar, Rönnblom, Lars, Syvänen, Ann-Christine

المساهمون: Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition CHU Pitié Salpêtrière (IHU ICAN), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)

المصدر: ISSN: 1018-4813.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

العلاقة: hal-03994939; https://hal.science/hal-03994939Test

الإتاحة: https://doi.org/10.1038/ejhg.2010.197Test
https://hal.science/hal-03994939Test