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Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Nil Z, Deshwar AR, Huang Y, Barish S, Zhang X, Choufani S, Le Quesne Stabej P, Hayes I, Yap P, Haldeman-Englert C, Wilson C, Prescott T, Tveten K, Vøllo A, Haynes D, Wheeler PG, Zon J, Cytrynbaum C, Jobling R, Blyth M, Banka S, Afenjar A, Mignot C, Robin-Renaldo F, Keren B, Kanca O, Mao X, Wegner DJ, Sisco K, Shinawi M; Undiagnosed Disease Network; Wangler MF, Weksberg R, Yamamoto S, Costain G, Bellen HJ. Nil Z, et al. Among authors: tveten k. Am J Hum Genet. 2023 Nov 2;110(11):1919-1937. doi: 10.1016/j.ajhg.2023.09.009. Epub 2023 Oct 11. Am J Hum Genet. 2023. PMID: 37827158 Free PMC article.
A woman in her fifties with chronic muscle weakness.
Rustad CF, Tveten K, Braathen GJ, Merckoll E, Kirkhus E, Fossmo HL, Ørstavik K. Rustad CF, et al. Among authors: tveten k. Tidsskr Nor Laegeforen. 2022 Jan 7;142(1). doi: 10.4045/tidsskr.21.0038. Print 2022 Jan 11. Tidsskr Nor Laegeforen. 2022. PMID: 35026081 Free article. English, Norwegian.
Epidemiology and natural history in 101 subjects with FKRP-related limb-girdle muscular dystrophy R9. The Norwegian LGMDR9 cohort study (2020).
Jensen SM, Müller KI, Mellgren SI, Bindoff LA, Rasmussen M, Ørstavik K, Jonsrud C, Tveten K, Nilssen Ø, Van Ghelue M, Arntzen KA. Jensen SM, et al. Among authors: tveten k. Neuromuscul Disord. 2023 Feb;33(2):119-132. doi: 10.1016/j.nmd.2022.11.005. Epub 2022 Nov 25. Neuromuscul Disord. 2023. PMID: 36522254 Free article.
Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways.
Cameron J, Bogsrud MP, Tveten K, Strøm TB, Holven K, Berge KE, Leren TP. Cameron J, et al. Among authors: tveten k. Transl Res. 2012 Aug;160(2):125-30. doi: 10.1016/j.trsl.2012.01.010. Epub 2012 Jan 31. Transl Res. 2012. PMID: 22683370
53 results