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

Year Number of Results
1994 1
2000 1
2002 1
2003 1
2004 2
2005 2
2006 2
2008 1
2009 1
2011 1
2012 1
2014 4
2015 2
2016 3
2017 4
2018 6
2019 7
2020 6
2021 5
2022 3
2023 2
2024 0

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PubMed for id: 55209

48 results

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Page 1
Structure, activity and function of the lysine methyltransferase SETD5.
Li M, Hou Y, Zhang Z, Zhang B, Huang T, Sun A, Shao G, Lin Q. Li M, et al. Front Endocrinol (Lausanne). 2023 Feb 17;14:1089527. doi: 10.3389/fendo.2023.1089527. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36875494 Free PMC article. Review.
Genetic variations on SETD5 underlying autistic conditions.
Fernandes IR, Cruz ACP, Ferrasa A, Phan D, Herai RH, Muotri AR. Fernandes IR, et al. Dev Neurobiol. 2018 May;78(5):500-518. doi: 10.1002/dneu.22584. Epub 2018 Mar 5. Dev Neurobiol. 2018. PMID: 29484850 Review.
Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.
Powis Z, Farwell Hagman KD, Mroske C, McWalter K, Cohen JS, Colombo R, Serretti A, Fatemi A, David KL, Reynolds J, Immken L, Nagakura H, Cunniff CM, Payne K, Barbaro-Dieber T, Gripp KW, Baker L, Stamper T, Aleck KA, Jordan ES, Hersh JH, Burton J, Wentzensen IM, Guillen Sacoto MJ, Willaert R, Cho MT, Petrik I, Huether R, Tang S. Powis Z, et al. Clin Genet. 2018 Apr;93(4):752-761. doi: 10.1111/cge.13132. Epub 2018 Jan 7. Clin Genet. 2018. PMID: 28881385
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
Kuechler A, Zink AM, Wieland T, Lüdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom TM, Novarino G, Engels H. Kuechler A, et al. Eur J Hum Genet. 2015 Jun;23(6):753-60. doi: 10.1038/ejhg.2014.165. Epub 2014 Aug 20. Eur J Hum Genet. 2015. PMID: 25138099 Free PMC article.
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
Grozeva D, Carss K, Spasic-Boskovic O, Parker MJ, Archer H, Firth HV, Park SM, Canham N, Holder SE, Wilson M, Hackett A, Field M, Floyd JA; UK10K Consortium; Hurles M, Raymond FL. Grozeva D, et al. Am J Hum Genet. 2014 Apr 3;94(4):618-24. doi: 10.1016/j.ajhg.2014.03.006. Epub 2014 Mar 27. Am J Hum Genet. 2014. PMID: 24680889 Free PMC article.
48 results