IC3D classification of corneal dystrophies--edition 2
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
Published in Cornea (01.02.2015)
Published in Cornea (01.02.2015)
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Journal Article
Functional characterization of all‐trans retinoic acid‐induced differentiation factor (ATRAID)
Mehrasa, Roya, Cristea, Ileana, Bredrup, Cecilie, Rødahl, Eyvind, Bruland, Ove
Published in FEBS open bio (01.10.2023)
Published in FEBS open bio (01.10.2023)
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Journal Article
A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome
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
Published in European journal of human genetics : EJHG (01.04.2019)
Published in European journal of human genetics : EJHG (01.04.2019)
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Journal Article
Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism
Fiskerstrand, Torunn, H'mida-Ben Brahim, Dorra, Johansson, Stefan, M'zahem, Abderrahim, Haukanes, Bjørn Ivar, Drouot, Nathalie, Zimmermann, Julian, Cole, Andrew J., Vedeler, Christian, Bredrup, Cecilie, Assoum, Mirna, Tazir, Meriem, Klockgether, Thomas, Hamri, Abdelmadjid, Steen, Vidar M., Boman, Helge, Bindoff, Laurence A., Koenig, Michel, Knappskog, Per M.
Published in American journal of human genetics (10.09.2010)
Published in American journal of human genetics (10.09.2010)
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Journal Article
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD)
Kamma-Lorger, Christina S, Pinali, Christian, Martínez, Juan Carlos, Harris, Jon, Young, Robert D, Bredrup, Cecilie, Crosas, Eva, Malfois, Marc, Rødahl, Eyvind, Meek, Keith M, Knupp, Carlo
Published in PloS one (01.02.2016)
Published in PloS one (01.02.2016)
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Journal Article
Development of congenital stromal corneal dystrophy is dependent on export and extracellular deposition of truncated decorin
Mellgren, Anne Elisabeth Christensen, Bruland, Ove, Vedeler, Anni, Saraste, Jaakko, Schönheit, Jürgen, Bredrup, Cecilie, Knappskog, Per Morten, Rødahl, Eyvind
Published in Investigative ophthalmology & visual science (01.05.2015)
Published in Investigative ophthalmology & visual science (01.05.2015)
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Journal Article
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing
Haugarvoll, Kristoffer, Johansson, Stefan, Tzoulis, Charalampos, Haukanes, Bjørn Ivar, Bredrup, Cecilie, Neckelmann, Gesche, Boman, Helge, Knappskog, Per Morten, Bindoff, Laurence A
Published in Orphanet journal of rare diseases (03.01.2013)
Published in Orphanet journal of rare diseases (03.01.2013)
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Journal Article
Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy
Bredrup, Cecilie, Stang, Espen, Bruland, Ove, Palka, Barbara P, Young, Robert D, Haavik, Jan, Knappskog, Per M, Rødahl, Eyvind
Published in Investigative ophthalmology & visual science (01.11.2010)
Published in Investigative ophthalmology & visual science (01.11.2010)
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Journal Article
Ophthalmological Aspects of Pierson Syndrome
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, Świetliński, Janusz, Thompson, Dorothy, VanDeVoorde, Rene G, Wittebol-Post, Dienke, Woodruff, Geoffrey, Zurowska, Aleksandra, Hennekam, Raoul C, Zenker, Martin, Russell-Eggitt, Isabelle
Published in American journal of ophthalmology (01.10.2008)
Published in American journal of ophthalmology (01.10.2008)
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Journal Article
Neurological Features and Enzyme Therapy in Patients With Endocrine and Exocrine Pancreas Dysfunction Due to CEL Mutations
Vesterhus, Mette, Ræder, Helge, Aurlien, Harald, Gjesdal, Clara G, Bredrup, Cecilie, Holm, Pål I, Molven, Anders, Bindoff, Laurence, Berstad, Arnold, Njølstad, Pål R
Published in Diabetes care (01.09.2008)
Published in Diabetes care (01.09.2008)
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Journal Article
K+ regulates relocation of Pellino‐2 to the site of NLRP3 inflammasome activation in macrophages
Cristea, Ileana, Bruland, Ove, Rødahl, Eyvind, Bredrup, Cecilie
Published in FEBS letters (01.10.2021)
Published in FEBS letters (01.10.2021)
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Journal Article
Pellino‐2 in nonimmune cells: novel interaction partners and intracellular localization
Cristea, Ileana, Bruland, Ove, Aukrust, Ingvild, Rødahl, Eyvind, Bredrup, Cecilie
Published in FEBS letters (01.12.2021)
Published in FEBS letters (01.12.2021)
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Journal Article
Corneal neovascularization associated with a novel PDGFRB gene variant: Implications for precision medicine treatment
Gladkauskas, Titas, Bruland, Ove, Safieh, Leen, Deepak, Edward, Rødahl, Eyvind, Bredrup, Cecilie
Published in Acta ophthalmologica (Oxford, England) (01.12.2022)
Published in Acta ophthalmologica (Oxford, England) (01.12.2022)
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Journal Article
Corneal Vascularization Associated With a Novel PDGFRB Variant
Gladkauskas, Titas, Bruland, Ove, Abu Safieh, Leen, Edward, Deepak P., Rødahl, Eyvind, Bredrup, Cecilie
Published in Investigative ophthalmology & visual science (01.11.2023)
Published in Investigative ophthalmology & visual science (01.11.2023)
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Journal Article
Functional Characterization of ABCA4 Missense Variants Aids Variant Interpretation and Phenotype Prediction in Patients With ABCA4-Retinal Dystrophies
Aslaksen, Sigrid, Aukrust, Ingvild, Molday, Laurie, Holtan, Josephine Prener, Jansson, Ragnhild Wivestad, Berland, Siren, Rødahl, Eyvind, Bredrup, Cecilie, Bragadóttir, Ragnheiður, Bratland, Eirik, Molday, Robert S, Knappskog, Per Morten
Published in Investigative ophthalmology & visual science (01.08.2024)
Published in Investigative ophthalmology & visual science (01.08.2024)
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Journal Article
Long-Term Follow-Up of Pediatric Excimer Laser-Assisted Penetrating Keratoplasty for Congenital Stromal Corneal Dystrophy
Berger, Tim, Hasenfus, Andrea, Bredrup, Cecilie, Gatzioufas, Zisis, Flockerzi, Fidelis, Käsmann-Kellner, Barbara, Daas, Loay, Flockerzi, Elias, Knappskog, Per M, Stang, Espen, Seitz, Berthold
Published in Cornea (01.06.2024)
Published in Cornea (01.06.2024)
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Journal Article
IC3D Classification of Corneal Dystrophies-Edition 3
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
Published in Cornea (01.04.2024)
Published in Cornea (01.04.2024)
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Journal Article
A Pellino‐2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia
Cristea, Ileana, Abarca, Hugo, Christensen Mellgren, Anne E., Trubnykova, Milana, Mehrasa, Roya, Peters, Dorien J. M., Houge, Gunnar, Hennekam, Raoul C. M., Rødahl, Eyvind, Bruland, Ove, Bredrup, Cecilie
Published in FEBS letters (01.05.2023)
Published in FEBS letters (01.05.2023)
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Journal Article