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Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Shaw-Smith C, Pittman AM, Willatt L, Martin H, Rickman L, Gribble S, Curley R, Cumming S, Dunn C, Kalaitzopoulos D, Porter K, Prigmore E, Krepischi-Santos AC, Varela MC, Koiffmann CP, Lees AJ, Rosenberg C, Firth HV, de Silva R, Carter NP. Shaw-Smith C, et al. Among authors: pittman am. Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906163
Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration.
Pittman AM, Myers AJ, Abou-Sleiman P, Fung HC, Kaleem M, Marlowe L, Duckworth J, Leung D, Williams D, Kilford L, Thomas N, Morris CM, Dickson D, Wood NW, Hardy J, Lees AJ, de Silva R. Pittman AM, et al. J Med Genet. 2005 Nov;42(11):837-46. doi: 10.1136/jmg.2005.031377. Epub 2005 Mar 25. J Med Genet. 2005. PMID: 15792962 Free PMC article.
The H1c haplotype at the MAPT locus is associated with Alzheimer's disease.
Myers AJ, Kaleem M, Marlowe L, Pittman AM, Lees AJ, Fung HC, Duckworth J, Leung D, Gibson A, Morris CM, de Silva R, Hardy J. Myers AJ, et al. Among authors: pittman am. Hum Mol Genet. 2005 Aug 15;14(16):2399-404. doi: 10.1093/hmg/ddi241. Epub 2005 Jul 6. Hum Mol Genet. 2005. PMID: 16000317
Tangle diseases and the tau haplotypes.
Hardy J, Pittman A, Myers A, Fung HC, de Silva R, Duckworth J. Hardy J, et al. Alzheimer Dis Assoc Disord. 2006 Jan-Mar;20(1):60-2. doi: 10.1097/01.wad.0000201853.54493.d8. Alzheimer Dis Assoc Disord. 2006. PMID: 16493238
121 results