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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 1
1977 1
1978 1
1981 1
1983 1
1985 1
1987 1
1989 2
1990 1
1992 2
2000 2
2001 1
2007 1
2009 1
2010 3
2011 1
2013 1
2016 1
2017 2
2018 2
2022 1
2024 0

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PubMed (OMIM) for id: 219285

28 results

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Page 1
New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49).
Corral-Juan M, Casquero P, Giraldo-Restrepo N, Laurie S, Martinez-Piñeiro A, Mateo-Montero RC, Ispierto L, Vilas D, Tolosa E, Volpini V, Alvarez-Ramo R, Sánchez I, Matilla-Dueñas A. Corral-Juan M, et al. Brain Commun. 2022 Feb 10;4(2):fcac030. doi: 10.1093/braincomms/fcac030. eCollection 2022. Brain Commun. 2022. PMID: 35310830 Free PMC article.
Germline loss-of-function SAMD9 and SAMD9L alterations in adult myelodysplastic syndromes.
Nagata Y, Narumi S, Guan Y, Przychodzen BP, Hirsch CM, Makishima H, Shima H, Aly M, Pastor V, Kuzmanovic T, Radivoyevitch T, Adema V, Awada H, Yoshida K, Li S, Sole F, Hanna R, Jha BK, LaFramboise T, Ogawa S, Sekeres MA, Wlodarski MW, Cammenga J, Maciejewski JP. Nagata Y, et al. Blood. 2018 Nov 22;132(21):2309-2313. doi: 10.1182/blood-2017-05-787390. Epub 2018 Oct 15. Blood. 2018. PMID: 30322869 Free PMC article. No abstract available.
Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.
Wong JC, Bryant V, Lamprecht T, Ma J, Walsh M, Schwartz J, Del Pilar Alzamora M, Mullighan CG, Loh ML, Ribeiro R, Downing JR, Carroll WL, Davis J, Gold S, Rogers PC, Israels S, Yanofsky R, Shannon K, Klco JM. Wong JC, et al. JCI Insight. 2018 Jul 26;3(14):e121086. doi: 10.1172/jci.insight.121086. eCollection 2018 Jul 26. JCI Insight. 2018. PMID: 30046003 Free PMC article.
The genomic landscape of pediatric myelodysplastic syndromes.
Schwartz JR, Ma J, Lamprecht T, Walsh M, Wang S, Bryant V, Song G, Wu G, Easton J, Kesserwan C, Nichols KE, Mullighan CG, Ribeiro RC, Klco JM. Schwartz JR, et al. Nat Commun. 2017 Nov 16;8(1):1557. doi: 10.1038/s41467-017-01590-5. Nat Commun. 2017. PMID: 29146900 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. 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.
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
Chen DH, Below JE, Shimamura A, Keel SB, Matsushita M, Wolff J, Sul Y, Bonkowski E, Castella M, Taniguchi T, Nickerson D, Papayannopoulou T, Bird TD, Raskind WH. Chen DH, et al. Am J Hum Genet. 2016 Jun 2;98(6):1146-1158. doi: 10.1016/j.ajhg.2016.04.009. Am J Hum Genet. 2016. PMID: 27259050 Free PMC article.
Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies.
Makishima H, Jankowska AM, Tiu RV, Szpurka H, Sugimoto Y, Hu Z, Saunthararajah Y, Guinta K, Keddache MA, Putnam P, Sekeres MA, Moliterno AR, List AF, McDevitt MA, Maciejewski JP. Makishima H, et al. Leukemia. 2010 Oct;24(10):1799-804. doi: 10.1038/leu.2010.167. Epub 2010 Aug 19. Leukemia. 2010. PMID: 20724984 No abstract available.
28 results