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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Lacombe D, Bloch-Zupan A, Bredrup C, Cooper EB, Houge SD, García-Miñaúr S, Kayserili H, Larizza L, Lopez Gonzalez V, Menke LA, Milani D, Saettini F, Stevens CA, Tooke L, Van der Zee JA, Van Genderen MM, Van-Gils J, Waite J, Adrien JL, Bartsch O, Bitoun P, Bouts AHM, Cueto-González AM, Dominguez-Garrido E, Duijkers FA, Fergelot P, Halstead E, Huisman SA, Meossi C, Mullins J, Nikkel SM, Oliver C, Prada E, Rei A, Riddle I, Rodriguez-Fonseca C, Rodríguez Pena R, Russell J, Saba A, Santos-Simarro F, Simpson BN, Smith DF, Stevens MF, Szakszon K, Taupiac E, Totaro N, Valenzuena Palafoll I, Van Der Kaay DCM, Van Wijk MP, Vyshka K, Wiley S, Hennekam RC. Lacombe D, et al. Among authors: bredrup c. J Med Genet. 2024 Mar 26:jmg-2023-109438. doi: 10.1136/jmg-2023-109438. Online ahead of print. J Med Genet. 2024. PMID: 38471765 Review.
IC3D Classification of Corneal Dystrophies-Edition 3.
Weiss JS, Rapuano CJ, Seitz B, Busin M, Kivelä TT, Bouheraoua N, Bredrup C, Nischal KK, Chawla H, Borderie V, Kenyon KR, Kim EK, Møller HU, Munier FL, Berger T, Lisch W. Weiss JS, et al. Among authors: bredrup c. Cornea. 2024 Apr 1;43(4):466-527. doi: 10.1097/ICO.0000000000003420. Epub 2024 Feb 12. Cornea. 2024. PMID: 38359414 Free PMC article.
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.
Muñoz-Oreja M, Sandoval A, Bruland O, Perez-Rodriguez D, Fernandez-Pelayo U, de Arbina AL, Villar-Fernandez M, Hernández-Eguiazu H, Hernández I, Park Y, Goicoechea L, Pascual-Frías N, Garcia-Ruiz C, Fernandez-Checa J, Martí-Carrera I, Gil-Bea FJ, Hasan MT, Gegg ME, Bredrup C, Knappskog PM, Gereñu-Lopetegui G, Varhaug KN, Bindoff LA, Spinazzola A, Yoon WH, Holt IJ. Muñoz-Oreja M, et al. Among authors: bredrup c. Brain. 2024 May 3;147(5):1899-1913. doi: 10.1093/brain/awae018. Brain. 2024. PMID: 38242545 Free PMC article.
Corneal Vascularization Associated With a Novel PDGFRB Variant.
Gladkauskas T, Bruland O, Abu Safieh L, Edward DP, Rødahl E, Bredrup C. Gladkauskas T, et al. Among authors: bredrup c. Invest Ophthalmol Vis Sci. 2023 Nov 1;64(14):9. doi: 10.1167/iovs.64.14.9. Invest Ophthalmol Vis Sci. 2023. PMID: 37934158 Free PMC article.
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