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Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.
Wilkie AO. Wilkie AO. Cytokine Growth Factor Rev. 2005 Apr;16(2):187-203. doi: 10.1016/j.cytogfr.2005.03.001. Epub 2005 Apr 1. Cytokine Growth Factor Rev. 2005. PMID: 15863034 Review.
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO. Kan SH, et al. Among authors: wilkie ao. Am J Hum Genet. 2002 Feb;70(2):472-86. doi: 10.1086/338758. Epub 2002 Jan 4. Am J Hum Genet. 2002. PMID: 11781872 Free PMC article.
FGFs, their receptors, and human limb malformations: clinical and molecular correlations.
Wilkie AO, Patey SJ, Kan SH, van den Ouweland AM, Hamel BC. Wilkie AO, et al. Am J Med Genet. 2002 Oct 15;112(3):266-78. doi: 10.1002/ajmg.10775. Am J Med Genet. 2002. PMID: 12357470 Review.
Why study human limb malformations?
Wilkie AO. Wilkie AO. J Anat. 2003 Jan;202(1):27-35. doi: 10.1046/j.1469-7580.2003.00130.x. J Anat. 2003. PMID: 12587917 Free PMC article.
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Robertson SP, Twigg SR, Sutherland-Smith AJ, Biancalana V, Gorlin RJ, Horn D, Kenwrick SJ, Kim CA, Morava E, Newbury-Ecob R, Orstavik KH, Quarrell OW, Schwartz CE, Shears DJ, Suri M, Kendrick-Jones J, Wilkie AO; OPD-spectrum Disorders Clinical Collaborative Group. Robertson SP, et al. Among authors: wilkie ao. Nat Genet. 2003 Apr;33(4):487-91. doi: 10.1038/ng1119. Epub 2003 Mar 3. Nat Genet. 2003. PMID: 12612583
Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.
Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AO. Johnson D, et al. Among authors: wilkie ao. Am J Hum Genet. 2003 Apr;72(4):984-97. doi: 10.1086/374721. Epub 2003 Mar 14. Am J Hum Genet. 2003. PMID: 12649808 Free PMC article.
Efficient use of a 'dead-end' GA 5' splice site in the human fibroblast growth factor receptor genes.
Brackenridge S, Wilkie AO, Screaton GR. Brackenridge S, et al. Among authors: wilkie ao. EMBO J. 2003 Apr 1;22(7):1620-31. doi: 10.1093/emboj/cdg163. EMBO J. 2003. PMID: 12660168 Free PMC article.
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.
Goriely A, McVean GA, Röjmyr M, Ingemarsson B, Wilkie AO. Goriely A, et al. Among authors: wilkie ao. Science. 2003 Aug 1;301(5633):643-6. doi: 10.1126/science.1085710. Science. 2003. PMID: 12893942
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.
Twigg SR, Kan R, Babbs C, Bochukova EG, Robertson SP, Wall SA, Morriss-Kay GM, Wilkie AO. Twigg SR, et al. Among authors: wilkie ao. Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8652-7. doi: 10.1073/pnas.0402819101. Epub 2004 May 27. Proc Natl Acad Sci U S A. 2004. PMID: 15166289 Free PMC article.
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
Rannan-Eliya SV, Taylor IB, De Heer IM, Van Den Ouweland AM, Wall SA, Wilkie AO. Rannan-Eliya SV, et al. Among authors: wilkie ao. Hum Genet. 2004 Aug;115(3):200-7. doi: 10.1007/s00439-004-1151-5. Epub 2004 Jul 7. Hum Genet. 2004. PMID: 15241680
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