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

Year Number of Results
1990 1
1994 1
1997 1
2000 1
2002 1
2003 2
2005 1
2006 2
2007 4
2008 3
2009 1
2010 3
2011 5
2012 4
2013 5
2014 4
2015 1
2016 5
2017 4
2018 6
2019 1
2020 1
2021 1
2023 1
2024 1

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48 results

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Page 1
Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism.
Wang P, Carrion P, Qiao Y, Tyson C, Hrynchak M, Calli K, Lopez-Rangel E, Andrieux J, Delobel B, Duban-Bedu B, Thuresson AC, Annerén G, Liu X, Rajcan-Separovic E, Suzanne Lewis ME. Wang P, et al. Among authors: thuresson ac. Eur J Med Genet. 2013 Aug;56(8):420-5. doi: 10.1016/j.ejmg.2013.05.006. Epub 2013 May 29. Eur J Med Genet. 2013. PMID: 23727450 Review.
A Role for the Chromatin-Remodeling Factor BAZ1A in Neurodevelopment.
Zaghlool A, Halvardson J, Zhao JJ, Etemadikhah M, Kalushkova A, Konska K, Jernberg-Wiklund H, Thuresson AC, Feuk L. Zaghlool A, et al. Among authors: thuresson ac. Hum Mutat. 2016 Sep;37(9):964-75. doi: 10.1002/humu.23034. Epub 2016 Jul 8. Hum Mutat. 2016. PMID: 27328812 Free PMC article.
De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.
Becker K, Di Donato N, Holder-Espinasse M, Andrieux J, Cuisset JM, Vallée L, Plessis G, Jean N, Delobel B, Thuresson AC, Annerén G, Ravn K, Tümer Z, Tinschert S, Schrock E, Jønch AE, Hackmann K. Becker K, et al. Among authors: thuresson ac. Eur J Med Genet. 2012 Aug-Sep;55(8-9):490-7. doi: 10.1016/j.ejmg.2012.03.003. Epub 2012 Apr 12. Eur J Med Genet. 2012. PMID: 22561202 Review.
Inhibition of poly(A) polymerase by aminoglycosides.
Thuresson AC, Kirsebom LA, Virtanen A. Thuresson AC, et al. Biochimie. 2007 Oct;89(10):1221-7. doi: 10.1016/j.biochi.2007.06.001. Epub 2007 Jun 8. Biochimie. 2007. PMID: 17629605
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, Dubourgm C, Rossi M, Bottani A, Gagnebin M, Sanlaville D, Gilbert-Dussardier B, Guipponi M, van Haeringen A, Kriek M, Ruivenkamp C, Antonarakis SE, Anderlid BM, Slater HR, Schoumans J. Béna F, et al. Among authors: thuresson ac. Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403. doi: 10.1002/ajmg.b.32148. Epub 2013 Mar 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23533028 Review.
SLC35A2-related congenital disorder of glycosylation: Defining the phenotype.
Yates TM, Suri M, Desurkar A, Lesca G, Wallgren-Pettersson C, Hammer TB, Raghavan A, Poulat AL, Møller RS, Thuresson AC, Balasubramanian M. Yates TM, et al. Among authors: thuresson ac. Eur J Paediatr Neurol. 2018 Nov;22(6):1095-1102. doi: 10.1016/j.ejpn.2018.08.002. Epub 2018 Aug 27. Eur J Paediatr Neurol. 2018. PMID: 30194038 Free article.
Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.
Zhao JJ, Halvardson J, Zander CS, Zaghlool A, Georgii-Hemming P, Månsson E, Brandberg G, Sävmarker HE, Frykholm C, Kuchinskaya E, Thuresson AC, Feuk L. Zhao JJ, et al. Among authors: thuresson ac. Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):10-20. doi: 10.1002/ajmg.b.32574. Epub 2017 Oct 9. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 28990276 Free PMC article.
48 results