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Ataxia-pancytopenia syndrome with SAMD9L mutations.
Gorcenco S, Komulainen-Ebrahim J, Nordborg K, Suo-Palosaari M, Andréasson S, Krüger J, Nilsson C, Kjellström U, Rahikkala E, Turkiewicz D, Karlberg M, Nilsson L, Cammenga J, Tedgård U, Davidsson J, Uusimaa J, Puschmann A. Gorcenco S, et al. Among authors: nilsson l, nilsson c. Neurol Genet. 2017 Aug 24;3(5):e183. doi: 10.1212/NXG.0000000000000183. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28852709 Free PMC article.
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms.
Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT. Tesi B, et al. Among authors: nilsson l. Blood. 2017 Apr 20;129(16):2266-2279. doi: 10.1182/blood-2016-10-743302. Epub 2017 Feb 15. Blood. 2017. PMID: 28202457 Free PMC article.
Constitutional SAMD9L mutations cause familial myelodysplastic syndrome and transient monosomy 7.
Pastor VB, Sahoo SS, Boklan J, Schwabe GC, Saribeyoglu E, Strahm B, Lebrecht D, Voss M, Bryceson YT, Erlacher M, Ehninger G, Niewisch M, Schlegelberger B, Baumann I, Achermann JC, Shimamura A, Hochrein J, Tedgård U, Nilsson L, Hasle H, Boerries M, Busch H, Niemeyer CM, Wlodarski MW. Pastor VB, et al. Among authors: nilsson l. Haematologica. 2018 Mar;103(3):427-437. doi: 10.3324/haematol.2017.180778. Epub 2017 Dec 7. Haematologica. 2018. PMID: 29217778 Free PMC article. Clinical Trial.
Failure to reach hematopoietic allogenic stem cell transplantation in patients with myelodysplastic syndromes planned for transplantation: a population-based study.
Lindholm C, Olofsson E, Creignou M, Nilsson L, Garelius HG, Cammenga J, Ljungman P, Ejerblad E, Tobiasson M. Lindholm C, et al. Among authors: nilsson l. Bone Marrow Transplant. 2022 Apr;57(4):598-606. doi: 10.1038/s41409-022-01582-0. Epub 2022 Feb 2. Bone Marrow Transplant. 2022. PMID: 35105966 Free PMC article.
Patient-Specific Measurable Residual Disease Markers Predict Outcome in Patients With Myelodysplastic Syndrome and Related Diseases After Hematopoietic Stem-Cell Transplantation.
Tobiasson M, Pandzic T, Illman J, Nilsson L, Weström S, Ejerblad E, Olesen G, Björklund A, Olsnes Kittang A, Werlenius O, Lorentz F, Rasmussen B, Cammenga J, Weber D, Lindholm C, Wiggh J, Dimitriou M, Moen AE, Yip Lundström L, von Bahr L, Baltzer-Sollander K, Jädersten M, Kytölä S, Walldin G, Ljungman P, Groenbaek K, Mielke S, Jacobsen SEW, Ebeling F, Cavelier L, Smidstrup Friis L, Dybedal I, Hellström-Lindberg E. Tobiasson M, et al. Among authors: nilsson l. J Clin Oncol. 2024 Apr 20;42(12):1378-1390. doi: 10.1200/JCO.23.01159. Epub 2024 Jan 17. J Clin Oncol. 2024. PMID: 38232336
2,139 results