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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: rickman l. Nat Genet. 2006 Sep;38(9):1032-7. doi: 10.1038/ng1858. Epub 2006 Aug 13. Nat Genet. 2006. PMID: 16906163
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features.
Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. Shaw-Smith C, et al. Among authors: rickman l. J Med Genet. 2004 Apr;41(4):241-8. doi: 10.1136/jmg.2003.017731. J Med Genet. 2004. PMID: 15060094 Free PMC article.
Prenatal diagnosis by array-CGH.
Rickman L, Fiegler H, Carter NP, Bobrow M. Rickman L, et al. Eur J Med Genet. 2005 Jul-Sep;48(3):232-40. doi: 10.1016/j.ejmg.2005.03.003. Eur J Med Genet. 2005. PMID: 16179219 Review.
Prenatal detection of unbalanced chromosomal rearrangements by array CGH.
Rickman L, Fiegler H, Shaw-Smith C, Nash R, Cirigliano V, Voglino G, Ng BL, Scott C, Whittaker J, Adinolfi M, Carter NP, Bobrow M. Rickman L, et al. J Med Genet. 2006 Apr;43(4):353-61. doi: 10.1136/jmg.2005.037648. Epub 2005 Sep 30. J Med Genet. 2006. PMID: 16199537 Free PMC article.
A member of the cAMP receptor protein family of transcription regulators in Mycobacterium tuberculosis is required for virulence in mice and controls transcription of the rpfA gene coding for a resuscitation promoting factor.
Rickman L, Scott C, Hunt DM, Hutchinson T, Menéndez MC, Whalan R, Hinds J, Colston MJ, Green J, Buxton RS. Rickman L, et al. Mol Microbiol. 2005 Jun;56(5):1274-86. doi: 10.1111/j.1365-2958.2005.04609.x. Mol Microbiol. 2005. PMID: 15882420 Free PMC article.
Parasite plastids: maintenance and functions.
Wilson RJ, Rangachari K, Saldanha JW, Rickman L, Buxton RS, Eccleston JF. Wilson RJ, et al. Among authors: rickman l. Philos Trans R Soc Lond B Biol Sci. 2003 Jan 29;358(1429):155-62; discussion 162-4. doi: 10.1098/rstb.2002.1187. Philos Trans R Soc Lond B Biol Sci. 2003. PMID: 12594924 Free PMC article.
133 results