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Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
Wallace RH, Scheffer IE, Barnett S, Richards M, Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL Jr, Mulley JC, Berkovic SF. Wallace RH, et al. Am J Hum Genet. 2001 Apr;68(4):859-65. doi: 10.1086/319516. Epub 2001 Mar 13. Am J Hum Genet. 2001. PMID: 11254444 Free PMC article.
CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3.
Kochetkova M, McKenzie OL, Bais AJ, Martin JM, Secker GA, Seshadri R, Powell JA, Hinze SJ, Gardner AE, Spendlove HE, O'Callaghan NJ, Cleton-Jansen AM, Cornelisse C, Whitmore SA, Crawford J, Kremmidiotis G, Sutherland GR, Callen DF. Kochetkova M, et al. Among authors: gardner ae. Cancer Res. 2002 Aug 15;62(16):4599-604. Cancer Res. 2002. PMID: 12183414
Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes.
Powell JA, Gardner AE, Bais AJ, Hinze SJ, Baker E, Whitmore S, Crawford J, Kochetkova M, Spendlove HE, Doggett NA, Sutherland GR, Callen DF, Kremmidiotis G. Powell JA, et al. Among authors: gardner ae. Genomics. 2002 Sep;80(3):303-10. doi: 10.1006/geno.2002.6828. Genomics. 2002. PMID: 12213200
Aberrant CBFA2T3B gene promoter methylation in breast tumors.
Bais AJ, Gardner AE, McKenzie OL, Callen DF, Sutherland GR, Kremmidiotis G. Bais AJ, et al. Among authors: gardner ae. Mol Cancer. 2004 Aug 10;3:22. doi: 10.1186/1476-4598-3-22. Mol Cancer. 2004. PMID: 15301688 Free PMC article.
The spectrum of SCN1A-related infantile epileptic encephalopathies.
Harkin LA, McMahon JM, Iona X, Dibbens L, Pelekanos JT, Zuberi SM, Sadleir LG, Andermann E, Gill D, Farrell K, Connolly M, Stanley T, Harbord M, Andermann F, Wang J, Batish SD, Jones JG, Seltzer WK, Gardner A; Infantile Epileptic Encephalopathy Referral Consortium; Sutherland G, Berkovic SF, Mulley JC, Scheffer IE. Harkin LA, et al. Brain. 2007 Mar;130(Pt 3):843-52. doi: 10.1093/brain/awm002. Brain. 2007. PMID: 17347258
A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.
Corbett MA, Bahlo M, Jolly L, Afawi Z, Gardner AE, Oliver KL, Tan S, Coffey A, Mulley JC, Dibbens LM, Simri W, Shalata A, Kivity S, Jackson GD, Berkovic SF, Gecz J. Corbett MA, et al. Among authors: gardner ae. Am J Hum Genet. 2010 Sep 10;87(3):371-5. doi: 10.1016/j.ajhg.2010.08.001. Am J Hum Genet. 2010. PMID: 20797691 Free PMC article.
47 results