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2023
1 Bassi, Nicola; Hovland, Henrikke; Rasheed, Kashif; Jarhelle, Elisabeth; Pedersen, Nikara; Kabanyana Mchaina, Eunice; Bakkan, Sara Marie Engelsvold; Iversen, Nina; Vetti, Hildegunn Høberg; Haukanes, Bjørn Ivar; Knappskog, Per Morten; Aukrust, Ingvild; Berge, Elisabet Ognedal; Van Ghelue, Marijke.
Functional analyses of rare germline BRCA1 variants by transcriptional activation and homologous recombination repair assays. BMC Cancer 2023 ;Volume 23.(1) p. -
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2 Hovland, Henrikke Nilsen; Mchaina, Eunice Kabanyana; Vetti, Hildegunn Høberg; Ariansen, Sarah Louise; Sjursen, Wenche; Van Ghelue, Marijke; Haukanes, Bjørn Ivar; Knappskog, Per Morten; Aukrust, Ingvild; Berge, Elisabet Ognedal.
Functional Analyses of Rare Germline Missense BRCA1 Variants Located within and outside Protein Domains with Known Functions. Genes 2023 ;Volume 14.(262) p. -
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3 Oftedal, Bergithe Eikeland; Berger, Amund Holte; Bruserud, Øyvind; Goldfarb, Yael; Sulen, André; Breivik, Lars Ertesvåg; Hellesen, Richard Alexander Svortevik; Haffner-Krausz, Rebecca; Knappskog, Per Morten; Johansson, Stefan; Wolff, Anette Susanne Bøe; Bratland, Eirik; Abramson, Jakub; Husebye, Eystein Sverre.
A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1. Journal of Clinical Investigation 2023 ;Volume 133.(21) p. -
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2022
4 Hovland, Henrikke Nilsen; Al-Adhami, Rafal Isam Fatoohi; Ariansen, Sarah Louise; Van Ghelue, Marijke; Sjursen, Wenche; Anfinsen, Sigrid Lima; Bolstad, Marte; Berger, Amund Holte; Vetti, Hildegunn Høberg; Knappskog, Per Morten; Haukanes, Bjørn Ivar; Aukrust, Ingvild; Ognedal, Elisabet.
BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories. Familial Cancer 2022 ;Volume 21. p. 389-398
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5 Krendel, Mira; Leh, Sabine; Garone, Michael E.; Edwards-Richards, Alcia; Lin, Jen-Jar; Brackman, Damien; Knappskog, Per Morten; Mikhailov, Alexei.
Focal segmental glomerulosclerosis and proteinuria associated with Myo1E mutations: novel variants and histological phenotype analysis. Pediatric nephrology (Berlin, West) 2022 ;Volume 38. p. 439-449
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6 Sjøgren, Thea; Bratland, Eirik; Røyrvik, Ellen Christine; Grytaas, Marianne; Benneche, Andreas; Knappskog, Per Morten; Kämpe, Olle; Oftedal, Bergithe Eikeland; Husebye, Eystein Sverre; Wolff, Anette Susanne Bøe.
Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies. Journal of Autoimmunity 2022 ;Volume 133:102917. p. 1-?
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2021
7 Eriksson, Daniel; Røyrvik, Ellen Christine; Aranda-Guillen, Maribel; Berger, Amund Holte; Landegren, Nils; Alvarez, Haydee Maribel Artaza; Hallgren, Åsa; Grytaas, Marianne; Strøm, Sara; Bratland, Eirik; Botusan, Ileana; Oftedal, Bergithe Eikeland; Breivik, Lars Ertesvåg; Vaudel, Marc; Helgeland, Øyvind; Falorni, Alberto; Jørgensen, Anders Palmstrøm; Hulting, Anna-Lena; Svartberg, Johan; Ekwall, Olov; Fougner, Kristian J; Wahlberg, Jeanette; Nedrebø, Bjørn Gunnar; Dahlqvist, Per; Knappskog, Per Morten; Wolff, Anette Susanne Bøe; Bensing, Sophie; Johansson, Stefan; Kämpe, Olof; Husebye, Eystein Sverre.
GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility. Nature Communications 2021 ;Volume 12:959. p. 1-14
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8 Håvik, Aril Løge; Bruland, Ove; Miletic, Hrvoje; Poulsgaard, Lars; Scheie, David; Fugleholm, Kåre; Lund-Johansen, Morten; Knappskog, Per Morten.
Genetic alterations associated with malignant transformation of sporadic vestibular schwannoma. Acta Neurochirurgica 2021 p. 1-10
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9 Pakdaman, Yasaman; Berland, Siren; Bustad, Helene J.; Erdal, Sigrid; Thompson, Bryony A.; James, Paul A.; Power, Kjersti; Ellingsen, Ståle; Krooni, Martin; Berge, Line Iden; Sexton, Adrienne; Bindoff, Laurence Albert; Knappskog, Per Morten; Johansson, Stefan; Aukrust, Ingvild.
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16. International Journal of Molecular Sciences 2021 ;Volume 22.(11)
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10 Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik; Norton, William H.J.; Rolfsnes, Hans Olav; Bindoff, Laurence Albert; Tzoulis, Charalampos; Aukrust, Ingvild; Knappskog, Per Morten; Johansson, Stefan; Ellingsen, Ståle.
Chip protein U-box domain truncation affects Purkinje neuron morphology and leads to behavioral changes in zebrafish. Frontiers in Molecular Neuroscience 2021 ;Volume 14:723912. p. 1-19
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11 Sævik, Åse Bjorvatn; Wolff, Anette Susanne Bøe; Björnsdottir, Sigridur; Simunkova, Katerina; Hynne, Martha Schei; Dolan, David William Peter; Bratland, Eirik; Knappskog, Per M; Methlie, Paal; Carlsen, Siri; Isaksson, Magnus; Bensing, Sophie; Kämpe, Olle; Husebye, Eystein S; Løvås, Kristian; Øksnes, Marianne.
Potential Transcriptional Biomarkers to Guide Glucocorticoid Replacement in Autoimmune Addison's Disease. Journal of the Endocrine Society (JES) 2021 ;Volume 5.(3) p. 1-10
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12 Taule-Sivertsen, Peter; Bruland, Ove; Håvik, Aril Løge; Bratland, Eirik; Lund-Johansen, Morten; Knappskog, Per Morten.
The SH3PXD2A-HTRA1 fusion transcript is extremely rare in Norwegian sporadic vestibular schwannoma patients. Journal of Neuro-Oncology 2021 ;Volume 154. p. 35-40
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2020
13 Holtan, Josephine Prener; Aukrust, Ingvild; Jansson, Ragnhild Wivestad; Berland, Siren; Bruland, Ove; Gjerde, Birgitt Løkhaug; Stokowy, Tomasz; Bojovic, Ognjen; Forsaa, Vegard Asgeir; Austeng, Dordi; Rødahl, Eyvind; Bredrup, Cecilie; Knappskog, Per; Bragadottir, Ragnheidur.
Clinical features and molecular genetics of patients with ABCA4-retinal dystrophies. Acta Ophthalmologica 2020 p. 1-14
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14 Håvik, Aril Løge; Bruland, Ove; Dhayalan, Dhanushan; Lund-Johansen, Morten; Knappskog, Per.
Gamma Knife Radiosurgery does not alter the copy number aberration profile in sporadic vestibular schwannoma. Journal of Neuro-Oncology 2020 ;Volume 149. p. 373-381
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15 Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik; Johansson, Stefan; Aukrust, Ingvild; Knappskog, Per; Ellingsen, Ståle.
Modeling neurodegeneration in zebrafish – mutation in spinocerebellar ataxia 16 associated gene stub1 affects Purkinje neuron morphology and leads to behavioral changes.. The ZDMS13 Annual Meeting; 2020-07-06 - 2020-07-09
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16 Pakdaman, Yasaman; Denker, Elsa; Austad, Eirik; Johansson, Stefan; Aukrust, Ingvild; Knappskog, Per; Ellingsen, Ståle.
Modeling Spinocerebellar Ataxia in zebrafish:U-box domain knockout of stub1 gene affects Purkinje neuron morphology and leads to behavioral changes.. The 11th EUROPEAN ZEBRAFISH MEETING 2020 - Virtual; 2020-10-26 - 2020-10-27
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17 Rovira, Paula; Demontis, Ditte; Sánchez-Mora, Cristina; Zayats, Tetyana; Klein, Marieke; Mota, Nina Roth; Weber, Heike; Garcia-Martínez, Iris; Pagerols, Mireia; Vilar-Ribó, Laura; Arribas, Lorena; Richarte, Vanesa; Corrales, Montserrat; Fadeuilhe, Christian; Bosch, Rosa; Martin, Gemma Español; Almos, Peter; Doyle, Alysa E.; Grevet, Eugenio Horacio; Grimm, Oliver; Halmøy, Anne; Hoogman, Martine; Hutz, Mara; Jacob, Christian P.; Kittel-Schneider, Sarah; Knappskog, Per Morten; Lundervold, Astri J.; Rivero, Olga; Rovaris, Diego Luiz; Salatino-Oliveira, Angelica; Silva, Bruna Santos da; Svirin, Evgeniy; Sprooten, Emma; Strekalova, Tatyana; Arias-Vasquez, Alejandro; Sonuga-Barke, Edmund J. S.; Asherson, Philip; Dotto Bau, Claiton Henrique; Buitelaar, Jan K.; Cormand, Bru; Faraone, Stephen; Haavik, Jan; Johansson, Stefan; Kuntsi, Jonna; Larsson, Henrik Bo W.; Lesch, Klaus-Peter; Reif, Andreas; Rohde, Luis Augusto; Casas, Miquel; Børglum, Anders D.; Franke, Barbara; Ramos-Quiroga, Josep Antoni; Artigas, María Soler.
Shared genetic background between children and adults with attention deficit/hyperactivity disorder. Neuropsychopharmacology 2020 ;Volume 45.(10) p. 1617-1626
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18 Smajlagic, Dinka; Lavrichenko, Ksenia; Berland, Siren; Helgeland, Øyvind; Knudsen, Gun Peggy Strømstad; Vaudel, Marc; Haavik, Jan; Knappskog, Per; Njølstad, Pål Rasmus; Houge, Gunnar; Johansson, Stefan.
Population prevalence and inheritance pattern of recurrent CNVs associated with neurodevelopmental disorders in 12,252 newborns and their parents. European Journal of Human Genetics 2020 ;Volume 29. p. 205-215
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19 Varhaug, Kristin Nielsen; Sanchez Nido, Gonzalo; de Coo, Irenaeus; Isohanni, Pirjo; Suomalainen, Anu; Tzoulis, Charalampos; Knappskog, Per; Bindoff, Laurence.
Using urine to diagnose large-scale mtDNA deletions in adult patients. Annals of clinical and translational neurology 2020 ;Volume 7.(8) p. 1318-1326
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20 Vetti, Hildegunn Høberg; Berge, Elisabet Ognedal; Buisson, Adrien; VAMRE, TONE BØE AAMAN; Ariansen, Sarah Louise; Hoover, Jacqueline; Eide, Geir Egil; Houge, Gunnar; Fiskerstrand, Torunn v/dødsbo; Haukanes, Bjørn Ivar; Bjorvatn, Cathrine; Knappskog, Per.
The intronic BRCA1 c.5407-25T>A variant causing partly skipping of exon 23-a likely pathogenic variant with reduced penetrance?. European Journal of Human Genetics 2020 ;Volume 28.(8) p. 1078-1086
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2019
21 Gudmundsson, Ólafur Ó.; Walters, Gudmundur Bragi; Ingason, Andrés; Johansson, Stefan; Zayats, Tetyana; Athanasiu, Lavinia; Sønderby, Ida Elken; Gustafsson, Omar; Nawaz, Muhammad Sulaman; Jónsson, Gudbjörn F.; Jónsson, Lina; Knappskog, Per; Ingvarsdóttir, Ester; Davidsdóttir, Katrin; Djurovic, Srdjan; Knudsen, Gun Peggy Strømstad; Askeland, Ragna Bugge; Haraldsdóttir, Gyda S.; Baldursson, Gísli; Magnússon, Páll; Sigurdsson, Engilbert; Gudbjartsson, Daníel Fannar; Stéfansson, Hreinn; Andreassen, Ole Andreas; Haavik, Jan; Reichborn-Kjennerud, Ted; Stefánsson, Kári.
Attention-deficit hyperactivity disorder shares copy number variant risk with schizophrenia and autism spectrum disorder. Translational Psychiatry 2019 ;Volume 9. p. 1-9
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22 Pakdaman, Yasaman; Austad, Eirik; Denker, Elsa; Johansson, Stefan; Aukrust, Ingvild; Knappskog, Per; Ellingsen, Ståle.
Characterization of STUB1in zebrafish-development of a new knock-out model to study neurodegeneration. European Human Genetics Conference; 2019-06-15 - 2019-06-18
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23 Tronstad, Rune Rose.
Clinical and molecular effects of guanylate cyclase C-activation. : Universitetet i Bergen 2019 (ISBN 9788230854426)
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2018
24 Berger, Amund Holte.
Sensing foul AIRE: Investigating possible reporter genes for AIRE mutations. : Klinisk institutt 2, Universitetet i Bergen 2018
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25 Eriksson, Daniel; Dalin, Frida; Eriksson, Gabriel Nordling; Landegren, Nils; Bianchi, Matteo; Hallgren, Åsa; Dahlqvist, Per; Wahlberg, Jeanette; Ekwall, Olov; Winqvist, Ola; Catrina, Sergiu-Bogdan; Rönnelid, Johan; Hulting, Anna-Lena; Lindblad-Toh, Kerstin; Alimohammadi, Mohammad; Husebye, Eystein Sverre; Knappskog, Per; Pielberg, Gerli Rosengren; Bensing, Sophie; Kämpe, Olle.
Cytokine autoantibody screening in the Swedish Addison Registry identifies patients with undiagnosed APS1. Journal of Clinical Endocrinology and Metabolism (JCEM) 2018 ;Volume 103.(1) p. 179-186
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26 Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Sztromwasser, Pawel Szymon; Knappskog, Per; Dahl, Olav; Lund-Johansen, Morten; Alves, Guido; Tysnes, Ole-Bjørn; Johansson, Stefan; Haugarvoll, Kristoffer; Tzoulis, Charalampos.
No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease. Brain 2018 ;Volume 141.(3) p. e16-e16
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27 Gaare, Johannes Jernqvist; Sanchez Nido, Gonzalo; Sztromwasser, Pawel Szymon; Knappskog, Per; Dahl, Olav; Lund-Johansen, Morten; Maple-Grødem, Jodi; Alves, Guido; Tysnes, Ole-Bjørn; Johansson, Stefan; Haugarvoll, Kristoffer; Tzoulis, Charalampos.
Rare genetic variation in mitochondrial pathways influences the risk for parkinson's disease. Movement Disorders 2018 ;Volume 33.(10) p. 1591-1600
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28 Håvik, Aril Løge; Bruland, Ove; Aarhus, Mads; Kalland, Karl-Henning; Stokowy, Tomasz; Lund-Johansen, Morten; Knappskog, Per.
Screening for viral nucleic acids in vestibular schwannoma. Journal of Neurovirology 2018 ;Volume 24.(6) p. 730-737
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29 Stige, Kjersti Eline; Gjerde, Ivar Otto; Houge, Gunnar Douzgos; Knappskog, Per Morten; Charalampos, Tzoulis.
Beta-propeller protein-associated neurodegeneration: a case report and review of the literature.. Clinical Case Reports 2018
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30 Szigetvari, Peter Daniel; Muruganandam, Gopinath; Kallio, Juha; Hallin, Erik Ingmar; Fossbakk, Agnete; Loris, Remy; Kursula, Inari; Møller, Lisbeth Birk; Knappskog, Per; Kursula, Petri; Haavik, Jan.
The quaternary structure of human tyrosine hydroxylase: effects of dystonia‐associated missense variants on oligomeric state and enzyme activity. Journal of Neurochemistry 2018 ;Volume 148.(2) p. 291-306
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31 Tronstad, Rune Rose; Polushina, Tatiana; Brattbakk, Hans-Richard; Stansberg, Christine; Volkmann, Hilde Løland Von; Hanevik, Kurt; Ellinghaus, Eva; Jørgensen, Silje Fjellgård; Ersland, Kari Merete; Pham, Khanh Do-Cong; Gilja, Odd Helge; Hovdenak, Nils; Hausken, Trygve; Vatn, Morten H; Franke, Andre; Knappskog, Per; Le Hellard, Stephanie; Karlsen, Tom Hemming; Fiskerstrand, Torunn.
Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea. Scandinavian Journal of Gastroenterology 2018 ;Volume 53.(10-11) p. 1264-1273
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2017
32 Haugarvoll, Kristoffer; Johansson, Stefan; Rodriguez, Carlos E.; Boman, Helge; Haukanes, Bjørn Ivar; Bruland, Ove; Roque, Francisco; Jonassen, Inge; Blomqvist, Maria; Telstad, Wenche; Månsson, Jan-Eric; Knappskog, Per; Bindoff, Laurence.
GBA2 mutations cause a Marinesco-Sjogren-like syndrome: Genetic and biochemical studies. PLOS ONE 2017 ;Volume 12:e0169309.(1) p. 1-10
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33 Håvik, Aril Løge; Bruland, Ove; Myrseth, Erling; Miletic, Hrvoje; Aarhus, Mads; Knappskog, Per; Lund-Johansen, Morten.
Genetic landscape of sporadic vestibular schwannoma. Journal of Neurosurgery 2017 ;Volume 128.(3) p. 911-922
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34 Macia, Maxence S.; Halbritter, Jan; Delous, Marion; Bredrup, Cecilie; Gutter, Arthur; Filhol, Emilie; Christensen, Anne Elisabeth; Leh, Sabine Maria; Bizet, Albane; Braun, Daniela A.; Gee, Heon Y.; Silbermann, Flora; Henry, Charline; Krug, Pauline; Bole-Feysot, Christine; Nitschké, Patrick; Joly, Dominique; Nicoud, Philippe; Paget, André; Haugland, Heidi; Brackman, Damien; Ahmet, Nayir; Sandford, Richard; Cengiz, Nurcan; Knappskog, Per; Boman, Helge; Linghu, Bolan; Yang, Fan; Oakeley, Edward J.; Saint Mézard, Pierre; Sailer, Andreas W.; Johansson, Stefan; Rødahl, Eyvind; Saunier, Sophie; Hildebrandt, Friedhelm; Benmerah, Alexandre.
Mutations in MAPKBP1 cause juvenile or late-onset cilia-independent nephronophthisis. American Journal of Human Genetics 2017 ;Volume 100.(2) p. 323-333
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35 Neveling, Kornelia; Mensenkamp, Arjen R.; Derks, Ronny; Kwint, Michael; Ouchene, Hicham; Steehouwer, Marloes; Lier, Bart Van; Bosgoed, Ermanno; Rikken, Alwin; Tychon, Marloes; Zafeiropoulou, Dimitra; Castelein, Steven; Hehir-Kwa, Jayne; Thung, Djie Tjwan; Hofste, Tom; Lelieveld, Stefan H.; Bertens, Stijn M.M.; Adan, Ivo B.J.F.; Eijkelenboom, Astrid; Tops, Bastiaan B.; Yntema, Helger; Stokowy, Tomasz; Knappskog, Per; Vetti, Hildegunn Høberg; Steen, Vidar Martin; Boyle, Evan; Martin, Beth; Ligtenberg, Marjolijn J.L.; Shendure, Jay; Nelen, Marcel R.; Hoischen, Alexander.
BRCA testing by single-molecule molecular inversion probes. Clinical Chemistry 2017 ;Volume 63.(2) p. 503-512
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36 Orlova, Elizaveta M.; Sozaeva, Leila S.; Kareva, Maria A.; Oftedal, Bergithe Eikeland; Wolff, Anette Susanne Bøe; Breivik, Lars Ertesvåg; Zakharova, Ekaterina Y.; Ivanova, Olga N.; Kämpe, Olle; Dedov, Ivan I.; Knappskog, Per; Peterkova, Valentina A.; Husebye, Eystein Sverre.
Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.. Journal of Pediatric Endocrinology & Metabolism (JPEM) 2017 ;Volume 102.(9) p. 3546-3556
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37 Pakdaman, Yasaman; Sanchez Guixe, Monica; Kleppe, Rune; Erdal, Sigrid; Bustad, Helene J.; Bjørkhaug, Lise; Haugarvoll, Kristoffer; Tzoulis, Charalampos; Heimdal, Ketil Riddervold; Knappskog, Per; Johansson, Stefan; Aukrust, Ingvild.
In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins. Bioscience Reports 2017 ;Volume 37.(2) p. 1-12
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38 Tzoulis, Charalampos; Sztromwasser, Pawel Szymon; Johansson, Stefan; Gjerde, Ivar Otto; Knappskog, Per; Bindoff, Laurence.
PNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema. Cerebellum 2017 ;Volume 16.(1) p. 272-275
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2016
39 Aukrust, Ingvild; Jansson, Ragnhild Wivestad; Bredrup, Cecilie; Rusaas, Hilde E.; Berland, Siren; Jørgensen, Agnete; Haug, Marte Gjøl; Rødahl, Eyvind; Houge, Gunnar; Knappskog, Per.
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. Acta Ophthalmologica 2016 ;Volume 95.(3) p. 240-246
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40 Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina; Teixeira, Pedro; Sztromwasser, Pawel Szymon; Fernandez-Vizarra, Erika; Cerutti, Raffaele; Reyes, Aurelio; Preziuso, Carmela; D'Amati, Giulia; Baruffini, Enrico; Goffrini, Paola; Viscomi, Carlo; Ferrero, Ileana; Boman, Helge; Telstad, Wenche; Johansson, Stefan; Glaser, Elzbieta; Knappskog, Per; Zeviani, Massimo; Bindoff, Laurence.
Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. EMBO Molecular Medicine 2016 ;Volume 8.(3) p. 176-190
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41 Bruserud, Øyvind; Oftedal, Bergithe Eikeland; Landegren, Nils; Erichsen, Martina Moter; Bratland, Eirik; Lima, Kari; Jørgensen, Anders Palmstrøm; Myhre, Anne Grethe; Svartberg, Johan; Fougner, Kristian J; Bakke, Åsne; Nedrebø, Bjørn Gunnar; Mella, Bjarne; Breivik, Lars Ertesvåg; Viken, Marte K; Knappskog, Per; Cuida Marthinussen, Ileana Mihaela; Løvås, Kristian; Kämpe, Olle; Wolff, Anette Susanne Bøe; Husebye, Eystein Sverre.
A longitudinal follow-up of autoimmune polyendocrine syndrome type 1. Journal of Clinical Endocrinology and Metabolism (JCEM) 2016 ;Volume 101.(8) p. 2975-2983
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42 Flønes, Irene Hana; Sztromwasser, Pawel Szymon; Haugarvoll, Kristoffer; Dölle, Christian; Lykouri, Maria; Schwarzlmüller, Thomas; Jonassen, Inge; Miletic, Hrvoje; Johansson, Stefan; Knappskog, Per; Bindoff, Laurence; Tzoulis, Charalampos.
Novel SLC19A3 promoter deletion and allelic silencing in biotin-thiamine-responsive basal ganglia encephalopathy. PLOS ONE 2016 ;Volume 11.(2)
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43 Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per; Johansson, Stefan; Boman, Helge; Sztromwasser, Pawel Szymon; Lien, Espen; Brodtkorb, Eylert; Ghezzi, Daniele; Bindoff, Laurence.
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?. European Journal of Neurology 2016 ;Volume 23.(7) p. 1188-1194
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44 Lozić, Bernarda; Johansson, Stefan; Lovric Kojundzic, Sanja; Markić, Joško; Knappskog, Per; Hahn, Angelika F.; Boman, Helge.
Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity. Annals of clinical and translational neurology 2016 ;Volume 3.(11) p. 876-883
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45 Vetti, Hildegunn Høberg; Bjorvatn, Cathrine; Fiane, Bent; Aas, Turid; Woie, Kathrine; Espelid, Helge; Eikesdal, Hans Petter; Listøl, Wenche; Haavind, Marianne Tveit; Knappskog, Per; Rusken, Tone; Haukanes, Bjørn Ivar; Steen, Vidar Martin; Hoogerbrugge, Nicoline.
BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. European Journal of Human Genetics 2016 ;Volume 24.(6) p. 881-888
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2015
46 Aarnes, Siv; Hagen, Snorre; Andreassen, Rune; Schregel, Julia; Knappskog, Per; Hailer, Frank; Stenhouse, Gordon; Janke, Axel; Eiken, Hans Geir.
Y-chromosomal testing of brown bears (Ursus arctos): Validation of a multiplex PCR-approach for nine STRs suitable for fecal and hair samples. Forensic Science International: Genetics 2015 ;Volume 19. p. 197-204
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47 Bredrup, Cecilie; Johansson, Stefan; Bindoff, Laurence; Sztromwasser, Pawel Szymon; Kråkenes, Jostein; Christensen, Anne Elisabeth; Brurås, Kari Røine; Lind, Ola; Boman, Helge; Knappskog, Per; Rødahl, Eyvind.
High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2). American Journal of Ophthalmology 2015 ;Volume 159.(5) p. 973-979
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48 Christensen, Anne Elisabeth; Bruland, Ove; Vedeler, Anni; Saraste, Jaakko; Schönheit, Jürgen; Bredrup, Cecilie; Knappskog, Per; Rødahl, Eyvind.
Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin. Investigative Ophthalmology and Visual Science 2015 ;Volume 56.(5) p. 2909-2915
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49 Oftedal, Bergithe Eikeland; Hellesen, Alexander; Erichsen, Martina Moter; Bratland, Eirik; Vardi, Ayelet; Perheentupa, Jaakko; Kemp, E. Helen; Fiskerstrand, Torunn; Viken, Marte K; Weetman, Anthony P.; Fleishman, Sarel J.; Banka, Siddharth; Newman, William G.; Sewell, William A. Carrock; Sozaeva, Leila S.; Zayats, Tetyana; Haugarvoll, Kristoffer; Orlova, Elizaveta M.; Haavik, Jan; Johansson, Stefan; Knappskog, Per; Løvås, Kristian; Wolff, Anette Susanne Bøe; Abramson, Jakub; Husebye, Eystein Sverre.
Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases. Immunity 2015 ;Volume 42.(6) p. 1185-1196
UiB HAUKELAND UiO OUS Untitled
 
50 Szigetvari, Peter Daniel.
Functional studies of tyrosine hydroxylase (TH) variants associated with DOPA responsive dystonia. : Institutt for biomedisin, Universitetet i Bergen 2015
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