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

Year Number of Results
1991 1
1992 11
1993 25
1994 30
1995 45
1996 64
1997 48
1998 40
1999 71
2000 52
2001 58
2002 54
2003 55
2004 73
2005 83
2006 45
2007 58
2008 74
2009 68
2010 52
2011 78
2012 90
2013 101
2014 108
2015 82
2016 100
2017 89
2018 66
2019 55
2020 2
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1,619 results
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Page 1
Rare FMR1 gene mutations causing fragile X syndrome: A review.
Sitzmann AF, Hagelstrom RT, Tassone F, Hagerman RJ, Butler MG. Sitzmann AF, et al. Am J Med Genet A. 2018 Jan;176(1):11-18. doi: 10.1002/ajmg.a.38504. Epub 2017 Nov 27. Am J Med Genet A. 2018. PMID: 29178241 Free PMC article. Review.
De novo mutations in epileptic encephalopathies.
Epi4K Consortium; Epilepsy Phenome/Genome Project, Allen AS, Berkovic SF, Cossette P, Delanty N, Dlugos D, Eichler EE, Epstein MP, Glauser T, Goldstein DB, Han Y, Heinzen EL, Hitomi Y, Howell KB, Johnson MR, Kuzniecky R, Lowenstein DH, Lu YF, Madou MR, Marson AG, Mefford HC, Esmaeeli Nieh S, O'Brien TJ, Ottman R, Petrovski S, Poduri A, Ruzzo EK, Scheffer IE, Sherr EH, Yuskaitis CJ, Abou-Khalil B, Alldredge BK, Bautista JF, Berkovic SF, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Dlugos D, Epstein MP, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Kuzniecky R, Lowenstein DH, McGuire SM, Motika PV, Novotny EJ, Ottman R, Paolicchi JM, Parent JM, Park K, Poduri A, Scheffer IE, Shellhaas RA, Sherr EH, Shih JJ, Singh R, Sirven J, Smith MC, Sullivan J, Lin Thio L, Venkat A, Vining EP, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. Epi4K Consortium, et al. Nature. 2013 Sep 12;501(7466):217-21. doi: 10.1038/nature12439. Epub 2013 Aug 11. Nature. 2013. PMID: 23934111 Free PMC article.
Fragile X syndrome: An overview and update of the FMR1 gene.
Mila M, Alvarez-Mora MI, Madrigal I, Rodriguez-Revenga L. Mila M, et al. Clin Genet. 2018 Feb;93(2):197-205. doi: 10.1111/cge.13075. Epub 2017 Oct 1. Clin Genet. 2018. PMID: 28617938 Review.
Fragile X syndrome.
Saldarriaga W, Tassone F, González-Teshima LY, Forero-Forero JV, Ayala-Zapata S, Hagerman R. Saldarriaga W, et al. Colomb Med (Cali). 2014 Dec 30;45(4):190-8. eCollection 2014 Oct-Dec. Colomb Med (Cali). 2014. PMID: 25767309 Free PMC article. Review.
Disease-Associated Short Tandem Repeats Co-localize with Chromatin Domain Boundaries.
Sun JH, Zhou L, Emerson DJ, Phyo SA, Titus KR, Gong W, Gilgenast TG, Beagan JA, Davidson BL, Tassone F, Phillips-Cremins JE. Sun JH, et al. Cell. 2018 Sep 20;175(1):224-238.e15. doi: 10.1016/j.cell.2018.08.005. Epub 2018 Aug 30. Cell. 2018. PMID: 30173918 Free PMC article.
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