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2024
1 Weiss, Jayne S.; Rapuano, Christopher J.; Seitz, Berthold; Busin, Massimo; Kivelä, Tero T.; Bouheraoua, Nacim; Bredrup, Cecilie; Nischal, Ken K.; Chawla, Harshvardhan; Borderie, Vincent; Kenyon, Kenneth R.; Kim, Eung Kweon; Møller, Hans Ulrik; Munier, Francis L.; Berger, Tim; Lisch, Walter.
IC3D Classification of Corneal Dystrophies - Edition 3. Cornea 2024 ;Volum 43.(4) s. 466-527
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2023
2 Cristea, Ileana; Abarca, Hugo; Christensen, Anne Elisabeth; Trubnykova, Milana; Mehrasa, Roya; Peters, Dorien J. M.; Houge, Gunnar Douzgos; Hennekam, Raoul C. M.; Rødahl, Eyvind; Bruland, Ove; Bredrup, Cecilie.
A Pellino-2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia. FEBS Letters 2023 ;Volum 597.(9) s. 1290-1299
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3 Gladkauskas, Titas; Bruland, Ove; Safieh, Leen Abu; Edward, Deepak P.; Rødahl, Eyvind; Bredrup, Cecilie.
Corneal Vascularization Associated With a Novel PDGFRB Variant. Investigative Ophthalmology and Visual Science 2023 ;Volum 64.(14) s. -
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4 Mehrasa, Roya; Cristea, Ileana; Bredrup, Cecilie; Rødahl, Eyvind; Bruland, Ove.
Functional characterization of all-trans retinoic acid-induced differentiation factor (ATRAID). FEBS Open Bio 2023 s. -
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2021
5 Bredrup, Cecilie; Cristea, Ileana; Safieh, Leen Abu; Di Maria, Emilio; Gjertsen, Bjørn Tore; Tveit, Kåre Steinar; Thu, Frode; Bull, Nils; Edward, Deepak P.; Hennekam, Raoul C.; Høvding, Gunnar Jr; Haugen, Olav H.; Houge, Gunnar Douzgos; Rødahl, Eyvind; Bruland, Ove.
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions. Human Molecular Genetics 2021 ;Volum 30.(1) s. 72-77
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6 Cristea, Ileana; Bruland, Ove; Aukrust, Ingvild; Rødahl, Eyvind; Bredrup, Cecilie.
Pellino-2 in nonimmune cells: novel interaction partners and intracellular localization. FEBS Letters 2021 ;Volum 595.(23) s. 2909-2921
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7 Cristea, Ileana; Bruland, Ove; Rødahl, Eyvind; Bredrup, Cecilie.
K+ regulates relocation of Pellino-2 to the site of NLRP3 inflammasome activation in macrophages. FEBS Letters 2021 s. 1-10
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8 Iznardo, Helena; Bredrup, Cecilie; Bernal, Sara; Gladkauskas, Titas; Mascaró, José-Manuel; Roé, Esther; Baselga, Eulalia.
Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome. American Journal of Medical Genetics. Part A 2021 s. -
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9 Rustad, Cecilie; Tveten, Kristian; Prescott, Trine; Bjerkeseth, Peder O.; Bredrup, Cecilie; Pfeiffer, Helle Cecilie.
Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome. American Journal of Medical Genetics. Part A 2021 s. -
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2020
10 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 s. 1-14
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2019
11 Bredrup, Cecilie; Haugen, Olav H..
Retroequatorial fixation sutures in esodeviations: Nordic experiences. NPOG/NSA 2019; 2019-08-29 - 2019-08-31
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2018
12 Bredrup, Cecilie; Stokowy, Tomasz; McGaughran, Julie; Lee, Samuel; Sapkota, Dipak; Cristea, Ileana; Xu, Linda; Tveit, Kåre Steinar; Høvding, Gunnar; Steen, Vidar Martin; Rødahl, Eyvind; Bruland, Ove; Houge, Gunnar.
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome.. European Journal of Human Genetics 2018
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13 Xu, Linda Zi Yan; Jensen, Hanne; Johnston, Jennifer; Di Maria, Emilio; Kloth, Katja; Cristea-Osuagwu, Ileana; Sapp, Julie; Darling, Thomas; Huryn, Laryssa; Tranebjærg, Lisbeth; Cinotti, Elisa; Kubisch, Christian; Rødahl, Eyvind; Bruland, Ove; Biesecker, Leslie; Houge, Gunnar; Bredrup, Cecilie.
Recurrent, activating variants in the receptor tyrosine kinase DDR2 cause Warburg-Cinotti syndrome. American Journal of Human Genetics 2018 ;Volum 103.(6) s. 976-983
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2017
14 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 ;Volum 100.(2) s. 323-333
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2016
15 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 ;Volum 95.(3) s. 240-246
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16 Haugen, Olav H.; Bredrup, Cecilie; Rødahl, Eyvind.
Nedsatt syn hos barn og unge i Norge. Tidsskrift for Den norske legeforening 2016 ;Volum 136.(11) s. 996-1000
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17 Haugen, Olav H.; Bredrup, Cecilie; Rødahl, Eyvind.
O.H. Haugen og medarbeidere svarer:. Tidsskrift for Den norske legeforening 2016 ;Volum 136.(16) s. 1329-1329
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18 Jansson, Ragnhild Wivestad; Berland, Siren; Bredrup, Cecilie; Austeng, Dordi; Andreasson, Sten; Wittström, Elisabeth.
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. Ophthalmic Genetics 2016 ;Volum 37.(2) s. 183-193
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19 Kamma-Lorger, Christina S.; Pinali, Christian; Martínez, Juan Carlos; Harris, John; Young, Robert D.; Bredrup, Cecilie; Crosas, Eva; Malfois, Marc; Rødahl, Eyvind; Meek, Keith M.; Knupp, Carlo.
Role of decorin core protein in collagen organisation in congenital stromal corneal dystrophy (CSCD). PLOS ONE 2016 ;Volum 11.(2)
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2015
20 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 ;Volum 159.(5) s. 973-979
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21 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 ;Volum 56.(5) s. 2909-2915
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22 Weiss, Jayne S.; Møller, Hans Ulrik; Aldave, Anthony J.; Seitz, Berthold; Bredrup, Cecilie; Kivelä, Tero; Munier, Francis L.; Rapuano, Christopher J.; Nischal, Kanwal K.; Kim, Eung Kweon; Sutphin, John; Busin, Massimo; Labbé, Antoine; Kenyon, Kenneth R.; Kinoshita, Shigeru; Lisch, Walter.
IC3D classification of corneal dystrophies-edition 2. Cornea 2015 ;Volum 34.(2) s. 117-159
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2014
23 Abarca, Hugo; Christensen, Anne Elisabeth; Trubnykova, Milana; Haugen, Olav H.; Høvding, Gunnar Jr; Tveit, Kåre Steinar; Houge, Gunnar; Bredrup, Cecilie; Hennekam, Raoul C..
Ocular pterygium - digital keloid dysplasia. American Journal of Medical Genetics. Part A 2014 ;Volum 164.(11) s. 2901-2907
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2013
24 Haugarvoll, Kristoffer; Johansson, Stefan; Tzoulis, Charalampos; Haukanes, Bjørn Ivar; Bredrup, Cecilie; Neckelmann, Gesche F; Boman, Helge; Knappskog, Per; Bindoff, Laurence.
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing. Orphanet Journal of Rare Diseases 2013 ;Volum 8. s. -
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25 Kjeka, Ole; Jansson, Ragnhild Wivestad; Bredrup, Cecilie; Krohn, Jørgen Gitlesen.
Early panretinal photocoagulation for ERG-verified ischaemic central retinal vein occlusion. Acta Ophthalmologica 2013 ;Volum 91.(1) s. 37-41
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2011
26 Bredrup, Cecilie; Saunier, Sophie; Oud, Machteld M.; Fiskerstrand, Torunn; Hoischen, Alexander; Brackman, Damien; Leh, Sabine; Midtbø, Marit; Filhol, Emilie; Bole-Feysot, Christine; Nitschke, Patrick; Gilissen, Christian; Haugen, Olav H.; Sanders, Jan-Stephan F.; Stolte-Dijkstra, Irene; Mans, Dorus A.; Steenbergen, Eric J.; Hamel, Ben C.J.; Matignon, Marie; Pfundt, Rolph; Jeanpierre, Cécilie; Boman, Helge; Veltman, Joris A.; Rødahl, Eyvind; Knappskog, Per; Knoers, Nine V.A.M.; Roepman, Ronald; Arts, Heleen .H.
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. American Journal of Human Genetics 2011 ;Volum 89.(5) s. 634-643
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27 Kjeka, Ole; Jansson, Ragnhild Wivestad; Bredrup, Cecilie; Krohn, Jørgen Gitlesen.
Early panretinal photocoagulation for ERGverified ischaemic central retinal vein occlusion. Acta Ophthalmologica 2011
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28 Weiss, Jayne S.; Møller, Hans Ulrik; Lisch, Walter; Kinoshita, Shigeru; Aldave, Anthony J.; Belin, Michael W.; Kivela, Tero; Busin, Massimo; Munier, Francis L.; Seitz, Berthold; Sutphin, John; Bredrup, Cecilie; Mannis, Mark J.; Rapuano, Christopher J.; Van Rij, Gabriel; Kim, Eung Kweon; Klintworth, Gordon K..
The IC3D Classification of the Corneal Dystrophies. Klinische Monatsblätter für Augenheilkunde 2011 ;Volum 228. s. S1-S39
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2010
29 Bindoff, Laurence; Fiskerstrand, Torunn; H'mida-Ben Brahim, D; Johansson, S; M'Zahem, A; Haukanes, BI; Drouot, N; Zimmermann, J; Cole, AJ; Vedeler, Christian A.; Bredrup, Cecilie; Assoum, M; Tazir, Meriem; Klockgether, T; Hamri, Abdelmadjid; Steen, Vidar Martin; Boman, Helge; Koenig, Michel; Knappskog, Per Morten.
Genetic characterisation of PHARC - a novel syndrome resembling Refsum's disease. Neuromuscular Disorders 2010 ;Volum 20.(9-10) s. 680-680
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30 Bredrup, Cecilie; Stang, Espen; Bruland, Ove; Palka, Barbara P; Young, Robert D; Haavik, Jan; Knappskog, Per Morten; Rødahl, Eyvind.
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy. Investigative Ophthalmology and Visual Science 2010 ;Volum 51.(11) s. 5578-5582
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31 Fiskerstrand, Torunn; Brahim, Dorra H'mida-Ben; Johansson, Stefan; M'Zahem, A; Drouot, Nathalie; Zimmermann, Julian; Cole, Andrew J; Vedeler, Christian A.; Bredrup, Cecilie; Assoum, Mirna; Tazir, Meriem; Klockgether, Thomas; Hamri, Abdelmadjid; Steen, Vidar Martin; Boman, Helge; Bindoff, Laurence; Koenig, Michel; Knappskog, Per Morten; Haukanes, Bjørn Ivar.
Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism. American Journal of Human Genetics 2010 ;Volum 87.(3) s. 410-417
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2009
32 Bredrup, Cecilie.
Clinical and molecular aspects of congenital hereditary eye disease. Universitetet i Bergen 2009
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2008
33 Bredrup, Cecilie; Matejas, Verena; Barrow, Margaret; Bláhová, Květa; Bockenhauer, Detlef; Fowler, Darren J.; Gregson, Richard M.; Maruniak-Chudek, Iwona; Medeira, Ana; Mendonça, Erica Laima; Kagan, Mikhail; Koenig, Jens; Krastel, Hermann; Kroes, Hester Y.; Saggar, Anand; Sawyer, Taylor; Schittkowski, Michael; Świetlińsk, Janusz; Thompson, Dorothy; VanDeVoorde, Rene G.; Wittebol-Post, Dienke; Woodruff, Geoffrey; Zurowska, Aleksandra; Hennekam, Raoul C.; Zenker, Martin; Russell-Eggitt, Isabelle.
Ophthalmological aspects of Pierson syndrome. American Journal of Ophthalmology 2008 ;Volum 146.(4) s. 602-611
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34 Bredrup, Cecilie; Riise, Rolf Bjarne; Rødahl, Eyvind; Haugen, Olav H..
Visual impairment in children in Norway. Acta Ophthalmologica 2008 ;Volum 86. Suppl. 241 s. 53-53
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35 Kjeka, Ole; Bredrup, Cecilie; Jansson, Ragnhild Wivelstad; Krohn, Jørgen Gitlesen.
Early panretinal photocoagulation for ischemic central retinal vein occlusion. Acta Ophthalmologica 2008 ;Volum 86. Suppl. 241 s. 50-50
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36 Vesterhus, Mette; Ræder, Helge; Aurlien, Harald; Gjesdal, Clara Gram; Bredrup, Cecilie; Holm, Pål Ivar; Molven, Anders; Bindoff, Laurence; Berstad, Arnold; Njølstad, Pål Rasmus.
Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations. Diabetes Care 2008 ;Volum 31.(9) s. 1738-1740
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37 Weiss, Jayne S.; Møller, Hans Ulrik; Lisch, Walter; Kinoshita, Shigeru; Aldave, Anthony J.; Belin, Michael W.; Kivela, Tero; Busin, Massimo; Munier, Francis L.; Seitz, Berthold; Sutphin, John; Bredrup, Cecilie; Mannis, Mark J.; Rapuano, Christopher J.; Van Rij, Gabriel; Kim, Eung Kweon; Klintworth, Gordon K..
The IC3D Classification of the Corneal Dystrophies. Cornea 2008 ;Volum 27.(10) s. S1-S42
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2007
38 Kjeka, Ole; Bredrup, Cecilie; Krohn, Jørgen Gitlesen.
Photopic 30 Hz flicker electroretinography predicts ocular neovascularization in central vein occlusion. Acta Ophthalmologica Scandinavica 2007 ;Volum 85.(6) s. 640-643
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2006
39 Rødahl, Eyvind; Van Ginderdeuren, Rita; Knappskog, Per; Bredrup, Cecilie; Boman, Helge.
A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy. American Journal of Ophthalmology 2006 ;Volum 142.(3) s. 520-521
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2005
40 Bredrup, Cecilie; Knappskog, Per; Majewski, Jacek; Rødahl, Eyvind; Boman, Helge.
Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene. Investigative Ophthalmology and Visual Science 2005 ;Volum 46. s. 420-426
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2003
41 Bredrup, Cecilie.
Synshemming hos barn og unge i Norge. Assistanse 2003 (2) s. 6-7
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2002
42 Bredrup, Cecilie.
Øyesykdommer hos eldre. Geriatrisk avdeling Haraldsplass; 2002-05-06 - 2002-05-06
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