Congenital aortic stenosis due to unicuspid unicommissural aortic valve: a case report

Autor: Arnar B. Ingason, Gunnlaugur Sigfusson, Bjarni Torfason

Publikováno v: Journal of Cardiothoracic Surgery, Vol 13, Iss 1, Pp 1-4 (2018)

Abstract Background Unicuspid unicommissural aortic valve is an extremely rare congenital anomaly that usually presents in adulthood but can rarely present in infancy. We report a 17-year-old patient with congenital aortic stenosis secondary to unicu

Externí odkaz: https://doaj.org/article/50e0a8ba674141c98e3955f4f138c73d

Sjúkratilfelli - lífshættulegar truflanir á blóðsöltum hjá átta vikna dreng

Autor: Arni V Thorsson, Jon J. Jonsson, Gunnlaugur Sigfússon, Ragnar Bjarnason, Arndis Audur Sigmarsdottir

Publikováno v: Læknablaðið. 2010:343-346

Hyponatremia is the most common electrolyte abnormality in children and underlying causes are many. It is most often caused by excessive salt loss from the gut but is also associated with severe systemic disorders in which there is actual or apparent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::04061f99b3886e09e1f13f13b34b5df4
https://doi.org/10.17992/lbl.2010.05.294

A frameshift deletion in the sarcomere gene MYL4 causes early-onset familial atrial fibrillation

Autor: David O. Arnar, Jona Saemundsdottir, Solveig Gretarsdottir, Patrick Sulem, Hrefna Johannsdottir, G Thorgeirsson, Sigurjon A. Gudjonsson, Hilma Holm, Daniel F. Gudbjartsson, Gisli Masson, Hafdis T. Helgadottir, Augustine Kong, Olafur T. Magnusson, Larry Baum, Inger Njølstad, Gunnlaugur Sigfússon, Unnur Thorsteinsdottir, Asmundur Oddsson, Kari Stefansson, Maja-Lisa Løchen, Ronald C.W. Ma, Hannes Helgason, Jon Th. Sverrisson

Publikováno v: European heart journal. 38(1)

Aims Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia in man, causing substantial morbidity and mortality with a major worldwide public health impact. It is increasingly recognized as a highly heritable condition. This study a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::688473f0b55ab649f22e0a5754dbacf1
https://pubmed.ncbi.nlm.nih.gov/28110309

Large-scale whole-genome sequencing of the Icelandic population

Autor: Gisli Masson, Einar Björnsson, Hrefna Johannsdottir, Hilma Holm, Bjarni Thjodleifsson, Arnaldur Gylfason, Olafur Th Magnusson, Agnar Helgason, Asmundur Oddson, Gudmundur I. Eyjolfsson, Thora Steingrimsdottir, Thora S. Gudmundsdottir, Thorunn Rafnar, Augustine Kong, Asgeir Sigurdsson, Unnur Thorsteinsdottir, Hafdis T. Helgadottir, Sigurjon A. Gudjonsson, Olof Sigurdardottir, Søren Besenbacher, Eirikur Hjartarson, Simon N. Stacey, Daniel F. Gudbjartsson, Jon G. Jonasson, Florian Zink, David O. Arnar, Jon Th. Sverrisson, Gunnlaugur Sigfússon, Kari Stefansson, Gunnar Th. Sigurdsson, Petur Ludvigsson, G. Bragi Walters, Hildur Thorarinsdottir, Isleifur Olafsson, Ásgeir Theodórs, Hakon Gudbjartsson, Sigurdur Olafsson, Gyda Bjornsdottir, Patrick Sulem, Michael L. Frigge, Solveig Gretarsdottir, Hannes Helgason, Gisli Magnusson, Jon J. Jonsson, Bjarni V. Halldorsson, Ólafur Thorarensen, Jona Saemundsdottir, Gudmundur Thorgeirsson

Publikováno v: Gudbjartsson, D F, Helgason, H, Gudjonsson, S A, Zink, F, Oddson, A, Gylfason, A, Besenbacher, S, Magnusson, G, Halldorsson, B V, Hjartarson, E, Sigurdsson, G T, Stacey, S N, Frigge, M L, Holm, H, Saemundsdottir, J, Helgadottir, H T, Johannsdottir, H, Sigfusson, G, Thorgeirsson, G, Sverrisson, J T, Gretarsdottir, S, Walters, G B, Rafnar, T, Thjodleifsson, B, Bjornsson, E S, Olafsson, S, Thorarinsdottir, H, Steingrimsdottir, T, Gudmundsdottir, T S, Theodors, A, Jonasson, J G, Sigurdsson, A, Bjornsdottir, G, Jonsson, J J, Thorarensen, O, Ludvigsson, P, Gudbjartsson, H, Eyjolfsson, G I, Sigurdardottir, O, Olafsson, I, Arnar, D O, Magnusson, O T, Kong, A, Masson, G, Thorsteinsdottir, U, Helgason, A, Sulem, P & Stefansson, K 2015, ' Large-scale whole-genome sequencing of the Icelandic population ', Nature Genetics, vol. 47, no. 5, pp. 435-44 . https://doi.org/10.1038/ng.3247

Here we describe the insights gained from sequencing the whole genomes of 2,636 Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions-deletions (indels). We describe the density and frequency spectra of sequence va

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6a4b7ac4678f3250ce5fd928bdefd3df
https://pubmed.ncbi.nlm.nih.gov/25820286

Abnormalities of the Left Ventricular Outflow Tract Associated With Discrete Subaortic Stenosis in Children: An Echocardiographic Study

Autor: Edward G. Cape, Theresa A. Tacy, Michael D. VanAuker, Gunnlaugur Sigfússon

Publikováno v: Journal of the American College of Cardiology. 30:255-259

Objectives. The purpose of this study was to examine the echocardiographic abnormalities of the left ventricular outflow tract associated with subaortic stenosis in children.Background. Considerable evidence suggests that subaortic stenosis is an acq

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e85a0dbee4e7790886f7ecbb547e660
https://doi.org/10.1016/s0735-1097(97)00151-4