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Array CGH analysis of copy number variation identifies 1284 new genes variant in healthy white males: implications for association studies of complex diseases.
de Smith AJ, Tsalenko A, Sampas N, Scheffer A, Yamada NA, Tsang P, Ben-Dor A, Yakhini Z, Ellis RJ, Bruhn L, Laderman S, Froguel P, Blakemore AI. de Smith AJ, et al. Among authors: blakemore ai. Hum Mol Genet. 2007 Dec 1;16(23):2783-94. doi: 10.1093/hmg/ddm208. Epub 2007 Jul 31. Hum Mol Genet. 2007. PMID: 17666407
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity.
Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SC, de Smith A, Blakemore AI, Froguel P, Owen CJ, Pearce SH, Teixeira L, Guillevin L, Graham DS, Pusey CD, Cook HT, Vyse TJ, Aitman TJ. Fanciulli M, et al. Among authors: blakemore ai. Nat Genet. 2007 Jun;39(6):721-3. doi: 10.1038/ng2046. Epub 2007 May 21. Nat Genet. 2007. PMID: 17529978 Free PMC article.
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.
de Smith AJ, Purmann C, Walters RG, Ellis RJ, Holder SE, Van Haelst MM, Brady AF, Fairbrother UL, Dattani M, Keogh JM, Henning E, Yeo GS, O'Rahilly S, Froguel P, Farooqi IS, Blakemore AI. de Smith AJ, et al. Among authors: blakemore ai. Hum Mol Genet. 2009 Sep 1;18(17):3257-65. doi: 10.1093/hmg/ddp263. Epub 2009 Jun 4. Hum Mol Genet. 2009. PMID: 19498035 Free PMC article.
138 results