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Rare copy number variation in cerebral palsy.
McMichael G, Girirajan S, Moreno-De-Luca A, Gecz J, Shard C, Nguyen LS, Nicholl J, Gibson C, Haan E, Eichler E, Martin CL, MacLennan A. McMichael G, et al. Among authors: haan e. Eur J Hum Genet. 2014 Jan;22(1):40-5. doi: 10.1038/ejhg.2013.93. Epub 2013 May 22. Eur J Hum Genet. 2014. PMID: 23695280 Free PMC article.
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Coe BP, et al. Among authors: haan e. Nat Genet. 2014 Oct;46(10):1063-71. doi: 10.1038/ng.3092. Epub 2014 Sep 14. Nat Genet. 2014. PMID: 25217958 Free PMC article.
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.
Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Raynaud M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bieleńska A, Batanian J, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gecz J. Kumar R, et al. Among authors: haan e. Hum Mol Genet. 2015 Dec 20;24(25):7171-81. doi: 10.1093/hmg/ddv414. Epub 2015 Oct 6. Hum Mol Genet. 2015. PMID: 26443594
Cytomegalovirus and Epstein-Barr virus may be associated with some cases of cerebral palsy.
McMichael G, MacLennan A, Gibson C, Alvino E, Goldwater P, Haan E, Dekker G; Australian Collaborative Cerebral Palsy Research Group. McMichael G, et al. Among authors: haan e. J Matern Fetal Neonatal Med. 2012 Oct;25(10):2078-81. doi: 10.3109/14767058.2012.666587. Epub 2012 Mar 23. J Matern Fetal Neonatal Med. 2012. PMID: 22372783 Free article.
The genomic basis of cerebral palsy: a HuGE systematic literature review.
O'Callaghan ME, MacLennan AH, Haan EA, Dekker G; South Australian Cerebral Palsy Research Group. O'Callaghan ME, et al. Among authors: haan ea. Hum Genet. 2009 Jul;126(1):149-72. doi: 10.1007/s00439-009-0638-5. Epub 2009 Feb 24. Hum Genet. 2009. PMID: 19238444 Review.
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
McMichael G, Bainbridge MN, Haan E, Corbett M, Gardner A, Thompson S, van Bon BW, van Eyk CL, Broadbent J, Reynolds C, O'Callaghan ME, Nguyen LS, Adelson DL, Russo R, Jhangiani S, Doddapaneni H, Muzny DM, Gibbs RA, Gecz J, MacLennan AH. McMichael G, et al. Among authors: haan e. Mol Psychiatry. 2015 Feb;20(2):176-82. doi: 10.1038/mp.2014.189. Epub 2015 Feb 10. Mol Psychiatry. 2015. PMID: 25666757
The Australian cerebral palsy research study--protocol for a national collaborative study investigating genomic and clinical associations with cerebral palsy.
O'Callaghan ME, MacLennan AH, Gibson CS, McMichael GL, Haan EA, Broadbent J, Priest K, Goldwater PN, Dekker GA; Australian Collaborative Cerebral Palsy Research Group. O'Callaghan ME, et al. Among authors: haan ea. J Paediatr Child Health. 2011 Mar;47(3):99-110. doi: 10.1111/j.1440-1754.2010.01896.x. Epub 2010 Nov 21. J Paediatr Child Health. 2011. PMID: 21091581
617 results