Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Per-Morten Knappskog"'
Autor:
Nicola Bassi, Henrikke Nilsen Hovland, Kashif Rasheed, Elisabeth Jarhelle, Nikara Pedersen, Eunice Kabanyana Mchaina, Sara Marie Engelsvold Bakkan, Nina Iversen, Hildegunn Høberg-Vetti, Bjørn Ivar Haukanes, Per Morten Knappskog, Ingvild Aukrust, Elisabet Ognedal, Marijke Van Ghelue
Publikováno v:
BMC Cancer, Vol 23, Iss 1, Pp 1-13 (2023)
Abstract Background Damaging alterations in the BRCA1 gene have been extensively described as one of the main causes of hereditary breast and ovarian cancer (HBOC). BRCA1 alterations can lead to impaired homologous recombination repair (HRR) of doubl
Externí odkaz:
https://doaj.org/article/3cfc411134d040d8a50b6bbb38b22097
Autor:
Daniel Eriksson, Ellen Christine Røyrvik, Maribel Aranda-Guillén, Amund Holte Berger, Nils Landegren, Haydee Artaza, Åsa Hallgren, Marianne Aardal Grytaas, Sara Ström, Eirik Bratland, Ileana Ruxandra Botusan, Bergithe Eikeland Oftedal, Lars Breivik, Marc Vaudel, Øyvind Helgeland, Alberto Falorni, Anders Palmstrøm Jørgensen, Anna-Lena Hulting, Johan Svartberg, Olov Ekwall, Kristian Johan Fougner, Jeanette Wahlberg, Bjørn Gunnar Nedrebø, Per Dahlqvist, The Norwegian Addison Registry Study Group, The Swedish Addison Registry Study Group, Per Morten Knappskog, Anette Susanne Bøe Wolff, Sophie Bensing, Stefan Johansson, Olle Kämpe, Eystein Sverre Husebye
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-14 (2021)
Autoimmune Addison’s disease is a rare complex disease, which has not yet been characterized by non-biased genetic studies. Here, the authors perform the first GWAS for the disease, identifying nine loci including two coding variants in the gene Au
Externí odkaz:
https://doaj.org/article/0be85e9204274eff9b1cb72be80b2205
Autor:
Henrikke Nilsen Hovland, Eunice Kabanyana Mchaina, Hildegunn Høberg-Vetti, Sarah Louise Ariansen, Wenche Sjursen, Marijke Van Ghelue, Bjørn Ivar Haukanes, Per Morten Knappskog, Ingvild Aukrust, Elisabet Ognedal
Publikováno v:
Genes
Volume 14
Issue 2
Pages: 262
Volume 14
Issue 2
Pages: 262
This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https:// creativecommons.org/licenses/by/ 4.0/). The BRCA1 protein is implicated in numerous important cellular pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb910324b4c9e7f227f6fa8185b8c119
Autor:
Kristoffer Haugarvoll, Stefan Johansson, Carlos E Rodriguez, Helge Boman, Bjørn Ivar Haukanes, Ove Bruland, Francisco Roque, Inge Jonassen, Maria Blomqvist, Wenche Telstad, Jan-Eric Månsson, Per Morten Knappskog, Laurence A Bindoff
Publikováno v:
PLoS ONE, Vol 12, Iss 1, p e0169309 (2017)
With the advent new sequencing technologies, we now have the tools to understand the phenotypic diversity and the common occurrence of phenocopies. We used these techniques to investigate two Norwegian families with an autosomal recessive cerebellar
Externí odkaz:
https://doaj.org/article/3540ac85428d464080612b7de6c19184
Autor:
Ove Bruland, Per Morten Knappskog
Publikováno v:
BioTechniques, Vol 37, Iss 6, Pp 906-912 (2004)
Externí odkaz:
https://doaj.org/article/e6cf23c0f32a46efa955271dfdcc742c
Autor:
Charalampos Tzoulis, Stefan Johansson, Bjørn Ivar Haukanes, Helge Boman, Per Morten Knappskog, Laurence A Bindoff
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e66145 (2013)
We employed whole exome sequencing to investigate three Norwegian siblings with an autosomal recessive spastic ataxia and epilepsy. All patients were compound heterozygous (c.13352T>C, p.Leu4451Pro; c.6890T>G, p.Leu2297Trp) for mutations in the SACS
Externí odkaz:
https://doaj.org/article/f140a043b13343ffab0860b05d3fe752
Publikováno v:
Journal of Neuro-Oncology
373–381
373–381
Introduction Ionizing radiation is a known etiologic factor in tumorigenesis and its role in inducing malignancy in the treatment of vestibular schwannoma has been debated. The purpose of this study was to identify a copy number aberration (CNA) prof
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8ca1a8ebd3cfd7e9a692658a63c9300
https://hdl.handle.net/11250/2739528
https://hdl.handle.net/11250/2739528
Autor:
Hildegunn, Høberg-Vetti, Elisabet, Ognedal, Adrien, Buisson, Tone Bøe Aaman, Vamre, Sarah, Ariansen, Jacqueline M, Hoover, Geir Egil, Eide, Gunnar, Houge, Torunn, Fiskerstrand, Bjørn Ivar, Haukanes, Cathrine, Bjorvatn, Per Morten, Knappskog
Publikováno v:
European Journal of Human Genetics
Rare sequence variants in the non-coding part of the BRCA genes are often reported as variants of uncertain significance (VUS), which leave patients and doctors in a challenging position. The aim of this study was to determine the pathogenicity of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::50e48572c289ca58acf59c1fed269167
https://pubmed.ncbi.nlm.nih.gov/32203205
https://pubmed.ncbi.nlm.nih.gov/32203205
Autor:
Andres Ingason, Stefan Johansson, Hreinn Stefansson, Ester Ingvarsdottir, Gyda S Haraldsdottir, Ted Reichborn-Kjennerud, Omar Gustafsson, Gisli Baldursson, Ole A. Andreassen, Ida E Sønderby, Kari Stefansson, Engilbert Sigurdsson, G. Bragi Walters, Lavinia Athanasiu, Olafur O Gudmundsson, Srdjan Djurovic, Per-Morten Knappskog, Lina Jonsson, Jan Haavik, Gudbjorn F. Jonsson, Páll Magnússon, Ragna Bugge Askeland, Muhammad Nawaz, Katrin Davidsdottir, Tetyana Zayats, Daniel F. Gudbjartsson, Gun Peggy Knudsen
Publikováno v:
Translational psychiatry
Translational Psychiatry, Vol 9, Iss 1, Pp 1-9 (2019)
Translational Psychiatry
Translational Psychiatry, Vol 9, Iss 1, Pp 1-9 (2019)
Translational Psychiatry
Publisher's version (útgefin grein).
Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple neurodevelopmental disorders
Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable common childhood-onset neurodevelopmental disorder. Some rare copy number variations (CNVs) affect multiple neurodevelopmental disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1073eb93160adb892208803093067b5
http://hdl.handle.net/11250/2634369
http://hdl.handle.net/11250/2634369
Autor:
Bernarda, Lozic, Stefan, Johansson, Sanja, Lovric Kojundzic, Josko, Markic, Per Morten, Knappskog, Angelika F, Hahn, Helge, Boman
Publikováno v:
Annals of Clinical and Translational Neurology
The sodium leak channel, a Na+‐permeable, nonselective cation channel, is widely expressed in the nervous system, contributing a basal Na+‐leak conductance and regulating neuronal excitability. A 3‐year‐old girl, heterozygous for a de novo mi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2aeaaa8d83e99d28bafd2445681be09e
https://pubmed.ncbi.nlm.nih.gov/27844033
https://pubmed.ncbi.nlm.nih.gov/27844033