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Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: raams a. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.
Attenuated XPC expression is not associated with impaired DNA repair in bladder cancer.
Naipal KA, Raams A, Bruens ST, Brandsma I, Verkaik NS, Jaspers NG, Hoeijmakers JH, van Leenders GJ, Pothof J, Kanaar R, Boormans J, van Gent DC. Naipal KA, et al. Among authors: raams a. PLoS One. 2015 Apr 30;10(4):e0126029. doi: 10.1371/journal.pone.0126029. eCollection 2015. PLoS One. 2015. PMID: 25927440 Free PMC article.
Heat-induced BRCA2 degradation in human tumours provides rationale for hyperthermia-PARP-inhibitor combination therapies.
van den Tempel N, Odijk H, van Holthe N, Naipal K, Raams A, Eppink B, van Gent DC, Hardillo J, Verduijn GM, Drooger JC, van Rhoon GC, Smedts DHPM, van Doorn HC, Boormans JL, Jager A, Franckena M, Kanaar R. van den Tempel N, et al. Among authors: raams a. Int J Hyperthermia. 2018 Jun;34(4):407-414. doi: 10.1080/02656736.2017.1355487. Epub 2017 Jul 31. Int J Hyperthermia. 2018. PMID: 28705099 Free article.
Neurological symptoms and natural course of xeroderma pigmentosum.
Anttinen A, Koulu L, Nikoskelainen E, Portin R, Kurki T, Erkinjuntti M, Jaspers NG, Raams A, Green MH, Lehmann AR, Wing JF, Arlett CF, Marttila RJ. Anttinen A, et al. Among authors: raams a. Brain. 2008 Aug;131(Pt 8):1979-89. doi: 10.1093/brain/awn126. Epub 2008 Jun 21. Brain. 2008. PMID: 18567921 Free article.
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype.
Theil AF, Botta E, Raams A, Smith DEC, Mendes MI, Caligiuri G, Giachetti S, Bione S, Carriero R, Liberi G, Zardoni L, Swagemakers SMA, Salomons GS, Sarasin A, Lehmann A, van der Spek PJ, Ogi T, Hoeijmakers JHJ, Vermeulen W, Orioli D. Theil AF, et al. Among authors: raams a. Am J Hum Genet. 2019 Aug 1;105(2):434-440. doi: 10.1016/j.ajhg.2019.06.017. Am J Hum Genet. 2019. PMID: 31374204 Free PMC article.
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
Kuo ME, Theil AF, Kievit A, Malicdan MC, Introne WJ, Christian T, Verheijen FW, Smith DEC, Mendes MI, Hussaarts-Odijk L, van der Meijden E, van Slegtenhorst M, Wilke M, Vermeulen W, Raams A, Groden C, Shimada S, Meyer-Schuman R, Hou YM, Gahl WA, Antonellis A, Salomons GS, Mancini GMS. Kuo ME, et al. Among authors: raams a. Am J Hum Genet. 2019 Mar 7;104(3):520-529. doi: 10.1016/j.ajhg.2019.01.006. Epub 2019 Feb 26. Am J Hum Genet. 2019. PMID: 30824121 Free PMC article.
50 results