Zobrazeno 1 - 10
of 69
pro vyhledávání: '"Mette, Bertelsen"'
Autor:
Giulia Ascari, Nanna D. Rendtorff, Marieke De Bruyne, Julie De Zaeytijd, Michel Van Lint, Miriam Bauwens, Mattias Van Heetvelde, Gavin Arno, Julie Jacob, David Creytens, Jo Van Dorpe, Thalia Van Laethem, Toon Rosseel, Tim De Pooter, Peter De Rijk, Wouter De Coster, Björn Menten, Alfredo Dueñas Rey, Mojca Strazisar, Mette Bertelsen, Lisbeth Tranebjaerg, Elfride De Baere
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Inactivating variants as well as a missense variant in the centrosomal CEP78 gene have been identified in autosomal recessive cone-rod dystrophy with hearing loss (CRDHL), a rare syndromic inherited retinal disease distinct from Usher syndrome. Apart
Externí odkaz:
https://doaj.org/article/483ae383a34a48e1a6bbe9032362f8b3
Publikováno v:
Ophthalmic Genetics. 43:876-881
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::582e732b09e5cab443d28e16415feba6
https://doi.org/10.1080/13816810.2022.2141789
https://doi.org/10.1080/13816810.2022.2141789
Autor:
Kristian Lisbjerg, Mette Bertelsen, Julie Lyng Forman, Karen Grønskov, Josephine Prener Holtan, Line Kessel
Publikováno v:
Ophthalmic Genetics. 44:139-146
To investigate the natural history of PRPF31-related retinitis pigmentosa (RP11). We identified individuals with RP11 and collected retrospective data from disease onset to present date including genetics, demographic data, Goldmann visual field area
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12eb841849ceb8d189a7823eb7ea7b19
https://doi.org/10.1080/13816810.2022.2123006
https://doi.org/10.1080/13816810.2022.2123006
Publikováno v:
Genes
Volume 14
Issue 2
Pages: 435
Volume 14
Issue 2
Pages: 435
(1) Background/aims: To examine potential genetic modifiers of disease penetrance in PRPF31-associated retinitis pigmentosa 11 (RP11). (2) Methods: Blood samples from individuals (n = 37) with PRPF31 variants believed to be disease-causing were used
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c4402f83469aabfff63a92f3fb24dbe
Publikováno v:
Ugeskrift for laeger. 184(45)
Inherited retinal disorders (IRD) are a common cause of severe visual impairment among children and young adults in Denmark. Gene therapy with voretigene neparvovec for a specific, and in Denmark common, cause of IRD (RPE65-related retinal dystrophy)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::53a56d5730fdfc42f82141136b1e3511
https://pubmed.ncbi.nlm.nih.gov/36345897
https://pubmed.ncbi.nlm.nih.gov/36345897
Autor:
Maéva Langouët, Christine Jolicoeur, Awais Javed, Pierre Mattar, Micah D. Gearhart, Stephen P. Daiger, Mette Bertelsen, Lisbeth Tranebjærg, Nanna D. Rendtorff, Karen Grønskov, Catherine Jespersgaard, Rui Chen, Zixi Sun, Hui Li, Najmeh Alirezaie, Jacek Majewski, Vivian J. Bardwell, Ruifang Sui, Robert K. Koenekoop, Michel Cayouette
Publikováno v:
Science Advances. 8
Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health and disease. Here, we show that BCL6 co-repressor (BCO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76424388799c8d3c69b887e5c430c544
https://doi.org/10.1126/sciadv.abh2868
https://doi.org/10.1126/sciadv.abh2868
Autor:
Maéva, Langouët, Christine, Jolicoeur, Awais, Javed, Pierre, Mattar, Micah D, Gearhart, Stephen P, Daiger, Mette, Bertelsen, Lisbeth, Tranebjærg, Nanna D, Rendtorff, Karen, Grønskov, Catherine, Jespersgaard, Rui, Chen, Zixi, Sun, Hui, Li, Najmeh, Alirezaie, Jacek, Majewski, Vivian J, Bardwell, Ruifang, Sui, Robert K, Koenekoop, Michel, Cayouette
Publikováno v:
Science advances. 8(36)
Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health and disease. Here, we show that BCL6 co-repressor (BCO
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f1f63ad03990eb0680b90dc00d2333e6
https://pubmed.ncbi.nlm.nih.gov/36070393
https://pubmed.ncbi.nlm.nih.gov/36070393
Autor:
Nicolai Utzon-Frank, Nina Breinegaard, Mette Bertelsen, Marianne Borritz, Nanna Hurwitz Eller, Merete Nordentoft, Kasper Olesen, Naja Hulvej Rod, Reiner Rugulies, Jens Peter Bonde
Publikováno v:
Scandinavian Journal of Work, Environment & Health, Vol 40, Iss 3, Pp 215-229 (2014)
OBJECTIVE: Post-traumatic stress disorder (PTSD) develops according to consensus criteria within the first 1–6 months after a horrifying traumatic event, but it is alleged that PTSD may develop later. The objective was to review the evidence addres
Externí odkaz:
https://doaj.org/article/730dad04065d4c1485690fd71e723455
Publikováno v:
Genes; Volume 14; Issue 3; Pages: 690
Achromatopsia is a rare congenital condition with cone photoreceptor dysfunction causing color blindness, reduced vision, nystagmus and photophobia. New treatments are being developed, but the current evidence is still conflicting regarding possible
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a752dec077b45582b37d51f921907f0b
https://doi.org/10.3390/genes14030690
https://doi.org/10.3390/genes14030690
Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen
Autor:
Michael Bau Mortensen, Mads Thomassen, Maja Dembic, Mette Bertelsen, Trine Aaquist, Lene Gaarsmand Christensen, Sönke Detlefsen, Karin de Stricker
Publikováno v:
Aaquist, T, Dembic, M, Thomassen, M, de Stricker, K, Bertelsen, M, Christensen, L G, Mortensen, M B & Detlefsen, S 2021, ' Synchronous detection of pancreatic adenocarcinoma and paraganglioma in a Whipple resection specimen ', Pathology, Research and Practice, vol. 226, 153590 . https://doi.org/10.1016/j.prp.2021.153590
We report a case of a pancreatic ductal adenocarcinoma (PDAC) presenting synchronously with a paraganglioma (PGL) in a Whipple reaction specimen. The patient was a 72-year-old female with a history of breast and vulvar cancer. The simultaneous occurr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::331827f602c14b60d4a1de94ad6e7e15
https://pubmed.ncbi.nlm.nih.gov/34454393
https://pubmed.ncbi.nlm.nih.gov/34454393