Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Reynir Arngrimsson"'
Autor:
Gudny A. Arnadottir, Gudmundur L. Norddahl, Steinunn Gudmundsdottir, Arna B. Agustsdottir, Snaevar Sigurdsson, Brynjar O. Jensson, Kristbjorg Bjarnadottir, Fannar Theodors, Stefania Benonisdottir, Erna V. Ivarsdottir, Asmundur Oddsson, Ragnar P. Kristjansson, Gerald Sulem, Kristjan F. Alexandersson, Thorhildur Juliusdottir, Kjartan R. Gudmundsson, Jona Saemundsdottir, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Paolo Manzanillo, Sigurjon A. Gudjonsson, Gudmundur A. Thorisson, Olafur Th. Magnusson, Gisli Masson, Kjartan B. Orvar, Hilma Holm, Sigurdur Bjornsson, Reynir Arngrimsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Ingileif Jonsdottir, Asgeir Haraldsson, Patrick Sulem, Kari Stefansson
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-9 (2018)
Mutations in genes encoding NAPDH oxidase subunits are known to be causative for the primary immunodeficiency chronic granulomatous disease (CGD). Here, the authors identify CYBC1 mutations in patients with CGD and show that CYBC1 is important for fo
Externí odkaz:
https://doaj.org/article/57f493162206468b9eb899348fd4d5e3
Autor:
Brynjar O. Jensson, Sif Hansdottir, Gudny A. Arnadottir, Gerald Sulem, Ragnar P. Kristjansson, Asmundur Oddsson, Stefania Benonisdottir, Hakon Jonsson, Agnar Helgason, Jona Saemundsdottir, Olafur T. Magnusson, Gisli Masson, Gudmundur A. Thorisson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Ingileif Jonsdottir, Vigdis Petursdottir, Jon R. Kristinsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Gunnar Gudmundsson, Kari Stefansson
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)
Abstract Background Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant mode of inheritance
Externí odkaz:
https://doaj.org/article/17b82beed8f640dc8ff4b312e80a5ff4
Autor:
Gudny A. Arnadottir, Brynjar O. Jensson, Sigurdur E. Marelsson, Gerald Sulem, Asmundur Oddsson, Ragnar P. Kristjansson, Stefania Benonisdottir, Sigurjon A. Gudjonsson, Gisli Masson, Gudmundur A. Thorisson, Jona Saemundsdottir, Olafur Th. Magnusson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson, Daniel F. Gudbjartsson, Unnur Thorsteinsdottir, Reynir Arngrimsson, Patrick Sulem, Kari Stefansson
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-5 (2017)
Abstract Background Epileptic encephalopathies are a group of childhood epilepsies that display high phenotypic and genetic heterogeneity. The recent, extensive use of next-generation sequencing has identified a large number of genes in epileptic enc
Externí odkaz:
https://doaj.org/article/3ecb8fc5078b40faa4921489a2b36192
Autor:
Sigurdis Haraldsdottir, Thorunn Rafnar, Wendy L. Frankel, Sylvia Einarsdottir, Asgeir Sigurdsson, Heather Hampel, Petur Snaebjornsson, Gisli Masson, Daniel Weng, Reynir Arngrimsson, Birte Kehr, Ahmet Yilmaz, Stefan Haraldsson, Patrick Sulem, Tryggvi Stefansson, Peter G. Shields, Fridbjorn Sigurdsson, Tanios Bekaii-Saab, Pall H. Moller, Margret Steinarsdottir, Kristin Alexiusdottir, Megan Hitchins, Colin C. Pritchard, Albert de la Chapelle, Jon G. Jonasson, Richard M. Goldberg, Kari Stefansson
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-11 (2017)
Lynch syndrome is characterized by predisposition to colorectal cancer and mutations in genes involved in mismatch repair. Here, the authors use whole genome sequencing and immunohistochemistry of mismatch repair proteins to show a high prevalence of
Externí odkaz:
https://doaj.org/article/892427e1e8434dbab0cf538d0c78f168
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1789a55d70400134f15617b629337d9
https://doi.org/10.1016/j.gim.2022.01.012
https://doi.org/10.1016/j.gim.2022.01.012
Autor:
Reynir, Arngrimsson
Publikováno v:
Laeknabladid. 104(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::06bee02c1c01c3586afefa2cd12acaff
https://pubmed.ncbi.nlm.nih.gov/30178750
https://pubmed.ncbi.nlm.nih.gov/30178750
Autor:
Reynir, Arngrimsson
Publikováno v:
Laeknabladid. 104(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b7c1545b42d3d97b42cedaed9ae0613f
https://pubmed.ncbi.nlm.nih.gov/29303107
https://pubmed.ncbi.nlm.nih.gov/29303107
Autor:
John Tolmie, Reynir Arngrimsson, John B.P. Stephenson, David Doyle, William R. Lee, Brian J Clark
Publikováno v:
British Journal of Ophthalmology. 81:470-475
AIMS/BACKGROUND To report a novel pattern of oculocerebral malformation related to the group of diseases characterised by cobblestone lissencephaly. METHODS By means of a case report with specialist descriptions of the novel neuropathological and oph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2ec84886ed611d651c55a2595e4eb09
https://doi.org/10.1136/bjo.81.6.470
https://doi.org/10.1136/bjo.81.6.470
Publikováno v:
Laeknabladid. 98(6)
We describe Ehlers-Danlos syndrome type IV in adult patients with a confirmed diagnosis and a systematic review of expected clinical findings in the disease. Serious complications were found in four individuals, two with gastrointestinal perforation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::52d371eb19bdec443c0467aa43741058
https://pubmed.ncbi.nlm.nih.gov/22647446
https://pubmed.ncbi.nlm.nih.gov/22647446
Publikováno v:
BJOG: An International Journal of Obstetrics and Gynaecology. 100:1151-1152
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6c9eac5bff5da2ffafa6da04f32d88f2
https://doi.org/10.1111/j.1471-0528.1993.tb15190.x
https://doi.org/10.1111/j.1471-0528.1993.tb15190.x