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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG. Bond J, et al. Among authors: rashid y. Nat Genet. 2005 Apr;37(4):353-5. doi: 10.1038/ng1539. Epub 2005 Mar 27. Nat Genet. 2005. PMID: 15793586
Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.
Jackson AP, McHale DP, Campbell DA, Jafri H, Rashid Y, Mannan J, Karbani G, Corry P, Levene MI, Mueller RF, Markham AF, Lench NJ, Woods CG. Jackson AP, et al. Among authors: rashid y. Am J Hum Genet. 1998 Aug;63(2):541-6. doi: 10.1086/301966. Am J Hum Genet. 1998. PMID: 9683597 Free PMC article.
Protein-truncating mutations in ASPM cause variable reduction in brain size.
Bond J, Scott S, Hampshire DJ, Springell K, Corry P, Abramowicz MJ, Mochida GH, Hennekam RC, Maher ER, Fryns JP, Alswaid A, Jafri H, Rashid Y, Mubaidin A, Walsh CA, Roberts E, Woods CG. Bond J, et al. Among authors: rashid y. Am J Hum Genet. 2003 Nov;73(5):1170-7. doi: 10.1086/379085. Epub 2003 Oct 21. Am J Hum Genet. 2003. PMID: 14574646 Free PMC article.
Mutations in microcephalin cause aberrant regulation of chromosome condensation.
Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, Neitzel H, Jackson AP. Trimborn M, et al. Among authors: rashid y. Am J Hum Genet. 2004 Aug;75(2):261-6. doi: 10.1086/422855. Epub 2004 Jun 15. Am J Hum Genet. 2004. PMID: 15199523 Free PMC article.
The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy.
Bond J, Flintoff K, Higgins J, Scott S, Bennet C, Parsons J, Mannon J, Jafri H, Rashid Y, Barrow M, Trembath R, Woodruff G, Rossa E, Lynch S, Sheilds J, Newbury-Ecob R, Falconer A, Holland P, Cockburn D, Karbani G, Malik S, Ahmed M, Roberts E, Taylor G, Woods CG. Bond J, et al. Among authors: rashid y. J Med Genet. 2005 Feb;42(2):e10. doi: 10.1136/jmg.2004.026617. J Med Genet. 2005. PMID: 15689433 Free PMC article. No abstract available.
75 results