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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Am J Hum Genet. 2004 Dec;75(6):1079-93. doi: 10.1086/426462. Epub 2004 Oct 18.
Am J Hum Genet. 2004.
PMID: 15492925
Free PMC article.
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene.
Bhalla K, Phillips HA, Crawford J, McKenzie OLD, Mulley JC, Eyre H, Gardner AE, Kremmidiotis G, Callen DF.
Bhalla K, et al. Among authors: mckenzie old.
J Hum Genet. 2004;49(6):308-311. doi: 10.1007/s10038-004-0145-4. Epub 2004 May 18.
J Hum Genet. 2004.
PMID: 15148587
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Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor.
McKenzie O, Ponte I, Mangelsdorf M, Finnis M, Colasante G, Shoubridge C, Stifani S, Gécz J, Broccoli V.
McKenzie O, et al.
Neuroscience. 2007 Apr 25;146(1):236-47. doi: 10.1016/j.neuroscience.2007.01.038. Epub 2007 Feb 27.
Neuroscience. 2007.
PMID: 17331656
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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: mckenzie ol.
Cancer Res. 2002 Aug 15;62(16):4599-604.
Cancer Res. 2002.
PMID: 12183414
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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: mckenzie ol.
Mol Cancer. 2004 Aug 10;3:22. doi: 10.1186/1476-4598-3-22.
Mol Cancer. 2004.
PMID: 15301688
Free PMC article.
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