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Rare copy number variation in autoimmune Addison's disease Artaza, Haydee; Eriksson, Daniel; Lavrichenko, Ksenia; Aranda-Guillen, Maribel; Bratland, Eirik; Vaudel, Marc; Knappskog, Per; Husebye, Eystein S.; Bensing, Sophie; Wolff, Anette S. B.; Kampe, Olle; Royrvik, Ellen C.; Johansson, Stefan 分享 收藏
A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1 Oftedal, Bergithe Eikeland; Berger, Amund Holte; Bruserud, Oyvind; Goldfarb, Yael; Sulen, Andre; Breivik, Lars; Hellesen, Alexander; Ben-Dor, Shifra; Haffner-Krausz, Rebecca; Knappskog, Per M.; Johansson, Stefan; Wolff, Anette S. B.; Bratland, Eirik; Abramson, Jakub; Husebye, Eystein Sverre 分享 收藏
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays Bassi, Nicola; Hovland, Henrikke Nilsen; Rasheed, Kashif; Jarhelle, Elisabeth; Pedersen, Nikara; Mchaina, Eunice Kabanyana; Bakkan, Sara Marie Engelsvold; Iversen, Nina; Hoberg-Vetti, Hildegunn; Haukanes, Bjorn Ivar; Knappskog, Per Morten; Aukrust, Ingvild; Ognedal, Elisabet; Van Ghelue, Marijke 分享 收藏
Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies Sjogren, Thea; Bratland, Eirik; Royrvik, Ellen C.; Grytaas, Marianne Aa; Benneche, Andreas; Knappskog, Per M.; Kampe, Olle; Oftedal, Bergithe E.; Husebye, Eystein S.; Wolff, Anette S. B. 分享 收藏
Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik; Norton, William H. J.; Rolfsnes, Hans O.; Bindoff, Laurence A.; Tzoulis, Charalampos; Aukrust, Ingvild; Knappskog, Per M.; Johansson, Stefan; Ellingsen, Stale 分享 收藏
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Potential Transcriptional Biomarkers to Guide Glucocorticoid Replacement in Autoimmune Addison's Disease Saevik, Ase Bjorvatn; Wolff, Anette B.; Bjornsdottir, Sigridur; Simunkova, Katerina; Hynne, Martha Schei; Dolan, David William Peter; Bratland, Eirik; Knappskog, Per M.; Methlie, Paal; Carlsen, Siri; Isaksson, Magnus; Bensing, Sophie; Kampe, Olle; Husebye, Eystein S.; Lovas, Kristian; oksnes, Marianne 分享 收藏
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies ABCA4-retinal营养不良患者的临床特征和分子遗传学研究 Holtan, Josephine Prener; Aukrust, Ingvild; Jansson, Ragnhild Wivestad; Berland, Siren; Bruland, Ove; Gjerde, Birgitt Lokhaug; Stokowy, Tomasz; Bojovic, Ognjen; Forsaa, Vegard; Austeng, Dordi; Rodahl, Eyvind; Bredrup, Cecilie; Knappskog, Per Morten; Bragadottir, Ragnheiour 分享 收藏
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents Smajlagic, Dinka; Lavrichenko, Ksenia; Berland, Siren; Helgeland, Oyvind; Knudsen, Gun Peggy; Vaudel, Marc; Haavik, Jan; Knappskog, Per Morten; Njolstad, Pal Rasmus; Houge, Gunnar; Johansson, Stefan 分享 收藏
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Shared genetic background between children and adults with attention deficit/hyperactivity disorder Rovira, Paula; Demontis, Ditte; Sanchez-Mora, Cristina; Zayats, Tetyana; Klein, Marieke; Mota, Nina Roth; Weber, Heike; Garcia-Martinez, Iris; Pagerols, Mireia; Vilar-Ribo, Laura; Arribas, Lorena; Richarte, Vanesa; Corrales, Montserrat; Fadeuilhe, Christian; Bosch, Rosa; Martin, Gemma Espanol; Almos, Peter; Doyle, Alysa E.; Grevet, Eugenio Horacio; Grimm, Oliver; Halmoy, Anne; Hoogman, Martine; Hutz, Mara; Jacob, Christian P.; Kittel-Schneider, Sarah; Knappskog, Per M.; Lundervold, Astri J.; Rivero, Olga; Rovaris, Diego Luiz; Salatino-Oliveira, Angelica; da Silva, Bruna Santos; Svirin, Evgeniy; Sprooten, Emma; Strekalova, Tatyana; Arias-Vasquez, Alejandro; Sonuga-Barke, Edmund J. S.; Asherson, Philip; Bau, Claiton Henrique Dotto; Buitelaar, Jan K.; Cormand, Bru; Faraone, Stephen V.; Haavik, Jan; Johansson, Stefan E.; Kuntsi, Jonna; Larsson, Henrik; Lesch, Klaus-Peter; Reif, Andreas; Rohde, Luis Augusto; Casas, Miquel; Borglum, Anders D.; Franke, Barbara; Ramos-Quiroga, Josep Antoni; Soler Artigas, Maria; Ribases, Marta 分享 收藏
The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance? Hoberg-Vetti, Hildegunn; Ognedal, Elisabet; Buisson, Adrien; Vamre, Tone Boe Aaman; Ariansen, Sarah; Hoover, Jacqueline M.; Eide, Geir Egil; Houge, Gunnar; Fiskerstrand, Torunn; Haukanes, Bjorn Ivar; Bjorvatn, Cathrine; Knappskog, Per Morten 分享 收藏
Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease 线粒体途径中罕见的遗传变异会影响帕金森氏病的风险 Gaare, Johannes J.; Nido, Gonzalo S.; Sztromwasser, Pawel; Knappskog, Per M.; Dahl, Olav; Lund-Johansen, Morten; Maple-Grodem, Jodi; Alves, Guido; Tysnes, Ole-Bjorn; Johansson, Stefan; Haugarvoll, Kristoffer; Tzoulis, Charalampos 分享 收藏
No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease Gaare, Johannes J.; Nido, Gonzalo S.; Sztromwasser, Pawel; Knappskog, Per M.; Dahl, Olav; Lund-Johansen, Morten; Alves, Guido; Tysnes, Ole-Bjorn; Johansson, Stefan; Haugarvoll, Kristoffer; Tzoulis, Charalampos 分享 收藏
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1 Orlova, Elizaveta M.; Sozaeva, Leila S.; Kareva, Maria A.; Oftedal, Bergithe E.; Wolff, Anette S. B.; Breivik, Lars; Zakharova, Ekaterina Y.; Ivanova, Olga N.; Kampe, Olle; Dedov, Ivan I.; Knappskog, Per M.; Peterkova, Valentina A.; Husebye, Eystein S. 分享 收藏
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins Pakdaman, Yasaman; Sanchez-Guixe, Monica; Kleppe, Rune; Erdal, Sigrid; Bustad, Helene J.; Bjrkhaug, Lise; Haugarvoll, Kristoffer; Tzoulis, Charalampos; Heimdal, Ketil; Knappskog, Per M.; Johansson, Stefan; Aukrust, Ingvild 分享 收藏
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