Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort

por Lisbjerg, Kristian, Grønskov, Karen, Bertelsen, Mette, Møller, Lisbeth Birk, Kessel, Line
Publicado 2023

Genetic and Clinical Characterization of Danish Achromatopsia Patients

por Andersen, Mette Kjøbæk Gundestrup, Bertelsen, Mette, Grønskov, Karen, Kohl, Susanne, Kessel, Line
Publicado 2023

Comorbidity in patients with branch retinal vein occlusion: case-control study

por Bertelsen, Mette, Linneberg, Allan, Rosenberg, Thomas, Christoffersen, Nynne, Vorum, Henrik, Gade, Else, Larsen, Michael
Publicado 2012

The effect of five years versus two years of specialised assertive intervention for first episode psychosis - OPUS II: study protocol for a randomized controlled trial

por Melau, Marianne, Jeppesen, Pia, Thorup, Anne, Bertelsen, Mette, Petersen, Lone, Gluud, Christian, Krarup, Gertrud, Nordentoft, Merete
Publicado 2011

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes

por Zernant, Jana, Lee, Winston, Nagasaki, Takayuki, Collison, Frederick T., Fishman, Gerald A., Bertelsen, Mette, Rosenberg, Thomas, Gouras, Peter, Tsang, Stephen H., Allikmets, Rando
Publicado 2018

Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa

por Jespersgaard, Cathrine, Bertelsen, Mette, Arif, Farah, Gellert-Kristensen, Helene Gry, Fang, Mingyan, Jensen, Hanne, Rosenberg, Thomas, Tümer, Zeynep, Møller, Lisbeth Birk, Brøndum-Nielsen, Karen, Grønskov, Karen
Publicado 2020

Retinal Structure in RPE65-Associated Retinal Dystrophy

por Kumaran, Neruban, Georgiou, Michalis, Bainbridge, James W. B., Bertelsen, Mette, Larsen, Michael, Blanco-Kelly, Fiona, Ayuso, Carmen, Tran, Hoai Viet, Munier, Francis L., Kalitzeos, Angelos, Michaelides, Michel
Publicado 2020

Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy

por Jespersgaard, Cathrine, Fang, Mingyan, Bertelsen, Mette, Dang, Xiao, Jensen, Hanne, Chen, Yulan, Bech, Niels, Dai, Lanlan, Rosenberg, Thomas, Zhang, Jianguo, Møller, Lisbeth Birk, Tümer, Zeynep, Brøndum-Nielsen, Karen, Grønskov, Karen
Publicado 2019

A Missense Mutation in RAB28 in a Family with Cone-Rod Dystrophy and Postaxial Polydactyly Prevents Localization of RAB28 to the Primary Cilium

por Jespersgaard, Cathrine, Hey, Amalie Brunbjerg, Ilginis, Tomas, Hjortshøj, Tina Duelund, Fang, Mingyan, Bertelsen, Mette, Bech, Niels, Jensen, Hanne, Larsen, Lasse Jonsgaard, Tümer, Zeynep, Rosenberg, Thomas, Brøndum-Nielsen, Karen, Møller, Lisbeth Birk, Grønskov, Karen
Publicado 2020

Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

por Langouët, Maéva, Jolicoeur, Christine, Javed, Awais, Mattar, Pierre, Gearhart, Micah D., Daiger, Stephen P., Bertelsen, Mette, Tranebjærg, Lisbeth, Rendtorff, Nanna D., Grønskov, Karen, Jespersgaard, Catherine, Chen, Rui, Sun, Zixi, Li, Hui, Alirezaie, Najmeh, Majewski, Jacek, Bardwell, Vivian J., Sui, Ruifang, Koenekoop, Robert K., Cayouette, Michel
Publicado 2022

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis

por Siemiatkowska, Anna M., van den Born, L. Ingeborgh, van Genderen, Maria M., Bertelsen, Mette, Zobor, Ditta, Rohrschneider, Klaus, van Huet, Ramon A.C., Nurohmah, Siska, Klevering, B. Jeroen, Kohl, Susanne, Faradz, Sultana M.H., Rosenberg, Thomas, den Hollander, Anneke I., Collin, Rob W.J., Cremers, Frans P.M.
Publicado 2014

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

por Ascari, Giulia, Rendtorff, Nanna D., De Bruyne, Marieke, De Zaeytijd, Julie, Van Lint, Michel, Bauwens, Miriam, Van Heetvelde, Mattias, Arno, Gavin, Jacob, Julie, Creytens, David, Van Dorpe, Jo, Van Laethem, Thalia, Rosseel, Toon, De Pooter, Tim, De Rijk, Peter, De Coster, Wouter, Menten, Björn, Rey, Alfredo Dueñas, Strazisar, Mojca, Bertelsen, Mette, Tranebjaerg, Lisbeth, De Baere, Elfride
Publicado 2021