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Page 1
Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis.
Toomes C, James J, Wood AJ, Wu CL, McCormick D, Lench N, Hewitt C, Moynihan L, Roberts E, Woods CG, Markham A, Wong M, Widmer R, Ghaffar KA, Pemberton M, Hussein IR, Temtamy SA, Davies R, Read AP, Sloan P, Dixon MJ, Thakker NS. Toomes C, et al. Among authors: woods cg. Nat Genet. 1999 Dec;23(4):421-4. doi: 10.1038/70525. Nat Genet. 1999. PMID: 10581027
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: woods cg. Am J Hum Genet. 1998 Aug;63(2):541-6. doi: 10.1086/301966. Am J Hum Genet. 1998. PMID: 9683597 Free PMC article.
A gene for ataxic cerebral palsy maps to chromosome 9p12-q12.
McHale DP, Jackson AP, Campbell, Levene MI, Corry P, Woods CG, Lench NJ, Mueller RF, Markham AF. McHale DP, et al. Among authors: woods cg. Eur J Hum Genet. 2000 Apr;8(4):267-72. doi: 10.1038/sj.ejhg.5200445. Eur J Hum Genet. 2000. PMID: 10854109
ASPM is a major determinant of cerebral cortical size.
Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG. Bond J, et al. Among authors: woods cg. Nat Genet. 2002 Oct;32(2):316-20. doi: 10.1038/ng995. Epub 2002 Sep 23. Nat Genet. 2002. PMID: 12355089
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: woods cg. 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.
261 results