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Page 1
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional Data.
Frederiksen JH, Birkedal U, Bachmann S, Eliesen EV, Rasmussen LJ, Pedersen KV, Al-Zehhawi L, Boonen SE, Krogh L, Rønlund K, Graversen L, Assenholt J, Schmiegelow K, Wadt K, Gerdes AM, Hansen TVO. Frederiksen JH, et al. Mol Genet Genomic Med. 2024 Nov;12(11):e70026. doi: 10.1002/mgg3.70026. Mol Genet Genomic Med. 2024. PMID: 39548353 Free PMC article.
Galectin-7 reprograms skin carcinogenesis by fostering innate immune evasive programs.
Pinto NA, Abba MC, Laporte L, Pérez Sáez JM, Blidner AG, Torres NI, Morales RM, Gatto SG, Bach CA, Veigas F, García Rivello HJ, Song P, Frederiksen JH, Rasmussen LJ, Poirier F, Croci DO, Sundblad V, Rabinovich GA, Cerliani JP. Pinto NA, et al. Among authors: frederiksen jh. Cell Death Differ. 2023 Apr;30(4):906-921. doi: 10.1038/s41418-022-01108-7. Epub 2023 Jan 24. Cell Death Differ. 2023. PMID: 36693903 Free PMC article.
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Djursby M, Madsen MB, Frederiksen JH, Berchtold LA, Therkildsen C, Willemoe GL, Hasselby JP, Wikman F, Okkels H, Skytte AB, Nilbert M, Wadt K, Gerdes AM, van Overeem Hansen T. Djursby M, et al. Among authors: frederiksen jh. Front Genet. 2020 Sep 24;11:566266. doi: 10.3389/fgene.2020.566266. eCollection 2020. Front Genet. 2020. PMID: 33193653 Free PMC article.
A functional assay-based procedure to classify mismatch repair gene variants in Lynch syndrome.
Drost M, Tiersma Y, Thompson BA, Frederiksen JH, Keijzers G, Glubb D, Kathe S, Osinga J, Westers H, Pappas L, Boucher KM, Molenkamp S, Zonneveld JB, van Asperen CJ, Goldgar DE, Wallace SS, Sijmons RH, Spurdle AB, Rasmussen LJ, Greenblatt MS, de Wind N, Tavtigian SV. Drost M, et al. Among authors: frederiksen jh. Genet Med. 2019 Jul;21(7):1486-1496. doi: 10.1038/s41436-018-0372-2. Epub 2018 Dec 3. Genet Med. 2019. PMID: 30504929 Free PMC article.
14 results