OpenURL Connection Search

Select item for more details and to access through your institution.

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-1
By:
- Haugarvoll, Kristoffer;
- Johansson, Stefan;
- Tzoulis, Charalampos;
- Haukanes, Bjørn Ivar;
- Bredrup, Cecilie;
- Neckelmann, Gesche;
- Boman, Helge;
- Knappskog, Per Morten;
- Bindoff, Laurence A.
Publication type:
Article
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
Published in:
2013
By:
- Haugarvoll, Kristoffer;
- Johansson, Stefan;
- Tzoulis, Charalampos;
- Haukanes, Bjørn Ivar;
- Bredrup, Cecilie;
- Neckelmann, Gesche;
- Boman, Helge;
- Knappskog, Per Morten;
- Bindoff, Laurence A
Publication type:
journal article
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Published in:
Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1899, doi. 10.1093/brain/awae018
By:
- Muñoz-Oreja, Mikel;
- Sandoval, Abigail;
- Bruland, Ove;
- Perez-Rodriguez, Diego;
- Fernandez-Pelayo, Uxoa;
- Arbina, Amaia Lopez de;
- Villar-Fernandez, Marina;
- Hernández-Eguiazu, Haizea;
- Hernández, Ixiar;
- Park, Yohan;
- Goicoechea, Leire;
- Pascual-Frías, Nerea;
- Garcia-Ruiz, Carmen;
- Fernandez-Checa, Jose;
- Martí-Carrera, Itxaso;
- Gil-Bea, Francisco Javier;
- Hasan, Mazahir T;
- Gegg, Matthew E;
- Bredrup, Cecilie;
- Knappskog, Per-Morten
Publication type:
Article
Clinical and molecular response to dasatinib in an adult patient with Penttinen syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2022, v. 188, n. 4, p. 1233, doi. 10.1002/ajmg.a.62603
By:
- Iznardo, Helena;
- Bredrup, Cecilie;
- Bernal, Sara;
- Gladkauskas, Titas;
- Mascaró, José‐Manuel;
- Roé, Esther;
- Baselga, Eulalia
Publication type:
Article
Positive response to imatinib in PDGFRB‐related Kosaki overgrowth syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2597, doi. 10.1002/ajmg.a.62264
By:
- Rustad, Cecilie F.;
- Tveten, Kristian;
- Prescott, Trine E.;
- Bjerkeseth, Peder O.;
- Bredrup, Cecilie;
- Pfeiffer, Helle Cecilie Viekilde
Publication type:
Article
Ocular pterygium-Digital keloid dysplasia.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2901, doi. 10.1002/ajmg.a.36713
By:
- Abarca, Hugo;
- Mellgren, Anne E Christensen;
- Trubnykova, Milana;
- Haugen, Olav H.;
- Høvding, Gunnar;
- Tveit, Kåre Steinar;
- Houge, Gunnar;
- Bredrup, Cecilie;
- Hennekam, Raoul C
Publication type:
Article
A Pellino‐2 variant is associated with constitutive NLRP3 inflammasome activation in a family with ocular pterygium–digital keloid dysplasia.
Published in:
FEBS Letters, 2023, v. 597, n. 9, p. 1290, doi. 10.1002/1873-3468.14597
By:
- 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
Publication type:
Article
Pellino‐2 in nonimmune cells: novel interaction partners and intracellular localization.
Published in:
FEBS Letters, 2021, v. 595, n. 23, p. 2909, doi. 10.1002/1873-3468.14212
By:
- Cristea, Ileana;
- Bruland, Ove;
- Aukrust, Ingvild;
- Rødahl, Eyvind;
- Bredrup, Cecilie
Publication type:
Article
K<sup>+</sup> regulates relocation of Pellino‐2 to the site of NLRP3 inflammasome activation in macrophages.
Published in:
FEBS Letters, 2021, v. 595, n. 19, p. 2437, doi. 10.1002/1873-3468.14176
By:
- Cristea, Ileana;
- Bruland, Ove;
- Rødahl, Eyvind;
- Bredrup, Cecilie
Publication type:
Article
Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions.
Published in:
Human Molecular Genetics, 2021, v. 30, n. 1, p. 72, doi. 10.1093/hmg/ddab014
By:
- Bredrup, Cecilie;
- Cristea, Ileana;
- Safieh, Leen Abu;
- Maria, Emilio Di;
- Gjertsen, Bjørn Tore;
- Tveit, Kåre Steinar;
- Thu, Frode;
- Bull, Nils;
- Edward, Deepak P;
- Hennekam, Raoul C M;
- Høvding, Gunnar;
- Haugen, Olav H;
- Houge, Gunnar;
- Rødahl, Eyvind;
- Bruland, Ove
Publication type:
Article
Corneal neovascularization associated with a novel PDGFRB gene variant: Implications for precision medicine treatment.
Published in:
Acta Ophthalmologica (1755375X), 2022, v. 100, p. N.PAG, doi. 10.1111/j.1755-3768.2022.0187
By:
- Gladkauskas, Titas;
- Bruland, Ove;
- Safieh, Leen;
- Deepak, Edward;
- Rødahl, Eyvind;
- Bredrup, Cecilie
Publication type:
Article
Clinical features and molecular genetics of patients with ABCA4‐retinal dystrophies.
Published in:
Acta Ophthalmologica (1755375X), 2021, v. 99, n. 5, p. e733, doi. 10.1111/aos.14679
By:
- Holtan, Josephine Prener;
- Aukrust, Ingvild;
- Jansson, Ragnhild Wivestad;
- Berland, Siren;
- Bruland, Ove;
- Gjerde, Birgitt Løkhaug;
- Stokowy, Tomasz;
- Bojovic, Ognjen;
- Forsaa, Vegard;
- Austeng, Dordi;
- Rødahl, Eyvind;
- Bredrup, Cecilie;
- Knappskog, Per Morten;
- Bragadóttir, Ragnheiður
Publication type:
Article
Activating mutations in discoidin domain receptor 2 cause Warburg‐Cinotti syndrome.
Published in:
Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5376
By:
- Zi Yan Xu, Linda;
- Jensen, Hanne;
- Johnston, Jennifer J.;
- Di Maria, Emilio;
- Kloth, Katja;
- Cristea, Ileana;
- Sapp, Julie C.;
- Darling, Thomas N.;
- Huryn, Laryssa A.;
- Tranebjærg, Lisbeth;
- Cinotti, Elisa;
- Kubisch, Christian;
- Rødahl, Eyvind;
- Bruland, Ove;
- Biesecker, Leslie G.;
- Houge, Gunnar;
- Bredrup, Cecilie
Publication type:
Article
The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.
Published in:
Acta Ophthalmologica (1755375X), 2017, v. 95, n. 3, p. 240, doi. 10.1111/aos.13273
By:
- Aukrust, Ingvild;
- Jansson, Ragnhild W.;
- Bredrup, Cecilie;
- Rusaas, Hilde E.;
- Berland, Siren;
- Jørgensen, Agnete;
- Haug, Marte G.;
- Rødahl, Eyvind;
- Houge, Gunnar;
- Knappskog, Per M.
Publication type:
Article
Early panretinal photocoagulation for ERG-verified ischaemic central retinal vein occlusion.
Published in:
Acta Ophthalmologica (1755375X), 2013, v. 91, n. 1, p. 37, doi. 10.1111/j.1755-3768.2011.02320.x
By:
- Kjeka, Ole;
- Jansson, Ragnhild W.;
- Bredrup, Cecilie;
- Krohn, Jørgen
Publication type:
Article
Role of Decorin Core Protein in Collagen Organisation in Congenital Stromal Corneal Dystrophy (CSCD).
Published in:
PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0147948
By:
- 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
Publication type:
Article
Functional characterization of all‐trans retinoic acid‐induced differentiation factor (ATRAID).
Published in:
FEBS Open Bio, 2023, v. 13, n. 10, p. 1874, doi. 10.1002/2211-5463.13685
By:
- Mehrasa, Roya;
- Cristea, Ileana;
- Bredrup, Cecilie;
- Rødahl, Eyvind;
- Bruland, Ove
Publication type:
Article
Neurological Features and Enzyme Therapy in Patients With Endocrine and Exocrine Pancreas Dysfunction Due to CEL Mutations.
Published in:
Diabetes Care, 2008, v. 31, n. 9, p. 1738, doi. 10.2337/dc07-2217
By:
- Vesterhus, Mette;
- Ræeder, Helge;
- Aurlien, Harald;
- Gjesdal, Clara G.;
- Bredrup, Cecilie;
- Holm, Pål I.;
- Molven, Anders;
- Bindoff, Laurence;
- Berstad, Arnold;
- Njølstad, Pål R.
Publication type:
Article
O.H. Haugen og medarbeidere svarer:.
Published in:
Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2016, v. 136, n. 16, p. 1329, doi. 10.4045/tidsskr.16.0698
By:
- Haugen, Olav H.;
- Bredrup, Cecilie;
- Rødahl, Eyvind
Publication type:
Article
Re: Nedsatt syn hos barn og unge i Norge.
Published in:
Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2016, v. 136, n. 16, p. 1328, doi. 10.4045/tidsskr.16.0697
By:
- Hansen, Egill;
- Haugen, Olav H.;
- Bredrup, Cecilie;
- Rødahl, Eyvind
Publication type:
Article
Nedsatt syn hos barn og unge i Norge.
Published in:
Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2016, v. 136, n. 11, p. 996, doi. 10.4045/tidsskr.15.1243
By:
- Haugen, Olav H.;
- Bredrup, Cecilie;
- Rødahl, Eyvind
Publication type:
Article

Found: 21