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Page 1
Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes.
Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS. Levitin MO, et al. Among authors: terkelsen t. Brain. 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. Brain. 2023. PMID: 37437211 Free PMC article.
Erratum: Publisher Correction: Homologous recombination DNA repair defects in PALB2-associated breast cancers.
Li A, Geyer FC, Blecua P, Lee JY, Selenica P, Brown DN, Pareja F, Lee SSK, Kumar R, Rivera B, Bi R, Piscuoglio S, Wen HY, Lozada JR, Gularte-Mérida R, Cavallone L; kConFab Investigators; Rezoug Z, Nguyen-Dumont T, Peterlongo P, Tondini C, Terkelsen T, Rønlund K, Boonen SE, Mannerma A, Winqvist R, Janatova M, Rajadurai P, Xia B, Norton L, Robson ME, Ng PS, Looi LM, Southey MC, Weigelt B, Soo-Hwang T, Tischkowitz M, Foulkes WD, Reis-Filho JS. Li A, et al. Among authors: terkelsen t. NPJ Breast Cancer. 2019 Nov 19;5:44. doi: 10.1038/s41523-019-0140-8. eCollection 2019. NPJ Breast Cancer. 2019. PMID: 31754629 Free PMC article.
Restriction genes for retroviruses influence the risk of multiple sclerosis.
Nexø BA, Hansen B, Nissen KK, Gundestrup L, Terkelsen T, Villesen P, Bahrami S, Petersen T, Pedersen FS, Laska MJ. Nexø BA, et al. Among authors: terkelsen t. PLoS One. 2013 Sep 16;8(9):e74063. doi: 10.1371/journal.pone.0074063. eCollection 2013. PLoS One. 2013. PMID: 24066097 Free PMC article.
Homologous recombination DNA repair defects in PALB2-associated breast cancers.
Li A, Geyer FC, Blecua P, Lee JY, Selenica P, Brown DN, Pareja F, Lee SSK, Kumar R, Rivera B, Bi R, Piscuoglio S, Wen HY, Lozada JR, Gularte-Mérida R, Cavallone L; kConFab Investigators; Rezoug Z, Nguyen-Dumont T, Peterlongo P, Tondini C, Terkelsen T, Rønlund K, Boonen SE, Mannerma A, Winqvist R, Janatova M, Rajadurai P, Xia B, Norton L, Robson ME, Ng PS, Looi LM, Southey MC, Weigelt B, Soo-Hwang T, Tischkowitz M, Foulkes WD, Reis-Filho JS. Li A, et al. Among authors: terkelsen t. NPJ Breast Cancer. 2019 Aug 8;5:23. doi: 10.1038/s41523-019-0115-9. eCollection 2019. NPJ Breast Cancer. 2019. PMID: 31428676 Free PMC article.
Hailey-Hailey Disease Caused by a Novel Deep Intronic Variant in ATP2C1.
Blechingberg J, Terkelsen T, Jensen UB, Rønholt K, Sommerlund M, Vinter H, Graversen L. Blechingberg J, et al. Among authors: terkelsen t. Am J Med Genet A. 2024 Nov 10:e63933. doi: 10.1002/ajmg.a.63933. Online ahead of print. Am J Med Genet A. 2024. PMID: 39523677
Effects of centralizing acute stroke services: A prospective cohort study.
Hastrup S, Johnsen SP, Terkelsen T, Hundborg HH, von Weitzel-Mudersbach P, Simonsen CZ, Hjort N, Møller AT, Harbo T, Poulsen MS, Ruiz de Morales Ayudarte N, Damgaard D, Andersen G. Hastrup S, et al. Among authors: terkelsen t. Neurology. 2018 Jul 17;91(3):e236-e248. doi: 10.1212/WNL.0000000000005822. Epub 2018 Jun 15. Neurology. 2018. PMID: 29907609 Free PMC article.
Endogenous retroviruses and multiple sclerosis-new pieces to the puzzle.
Nissen KK, Laska MJ, Hansen B, Terkelsen T, Villesen P, Bahrami S, Petersen T, Pedersen FS, Nexø BA. Nissen KK, et al. Among authors: terkelsen t. BMC Neurol. 2013 Aug 28;13:111. doi: 10.1186/1471-2377-13-111. BMC Neurol. 2013. PMID: 23984932 Free PMC article. Review.
Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.
Gregersen PA, Hammarsjö A, Graversen L, Brix N, Lindelöf H, Jensen UB, Farholt S, Rubak S, Bjerre J, Piticchio SG, Terkelsen T, Nishimura G, Hellfritzsch MB, Grigelioniene G. Gregersen PA, et al. Among authors: terkelsen t. Clin Genet. 2025 Jan;107(1):78-82. doi: 10.1111/cge.14616. Epub 2024 Sep 6. Clin Genet. 2025. PMID: 39239663 Free PMC article.
39 results