Wilkes D - Search Results

1

Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q.

Chamberlain S, Farrall M, Shaw J, Wilkes D, Carvajal J, Hillerman R, Doudney K, Harding AE, Williamson R, Sirugo G, et al. Chamberlain S, et al. Among authors: wilkes d. Am J Hum Genet. 1993 Jan;52(1):99-109. Am J Hum Genet. 1993. PMID: 8434613 Free PMC article.

2

Identification of CpG islands in a physical map encompassing the Friedreich's ataxia locus.

Wilkes D, Shaw J, Anand R, Riley J, Winter P, Wallis J, Driesel AG, Williamson R, Chamberlain S. Wilkes D, et al. Genomics. 1991 Jan;9(1):90-5. doi: 10.1016/0888-7543(91)90224-3. Genomics. 1991. PMID: 2004770

3

Prenatal diagnosis of Friedreich ataxia.

Wallis J, Shaw J, Wilkes D, Farrall M, Williamson R, Chamberlain S, Skare JC, Milunsky A. Wallis J, et al. Among authors: wilkes d. Am J Med Genet. 1989 Nov;34(3):458-61. doi: 10.1002/ajmg.1320340327. Am J Med Genet. 1989. PMID: 2574535

4

Friedreich's ataxia: a defect in signal transduction?

Carvajal JJ, Pook MA, Doudney K, Hillermann R, Wilkes D, al-Mahdawi S, Williamson R, Chamberlain S. Carvajal JJ, et al. Among authors: wilkes d. Hum Mol Genet. 1995 Aug;4(8):1411-9. doi: 10.1093/hmg/4.8.1411. Hum Mol Genet. 1995. PMID: 7581382

5

Physical evidence for the position of the Friedreich's ataxia locus FRDA proximal to D9S5.

Hillermann R, See CG, Pook M, Wilkes D, Carvajal J, Doudney K, Williamson R, Chamberlain S. Hillermann R, et al. Among authors: wilkes d. Cytogenet Cell Genet. 1995;71(3):214-6. doi: 10.1159/000134112. Cytogenet Cell Genet. 1995. PMID: 7587379

6

Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.

Pulleyn LJ, Reardon W, Wilkes D, Rutland P, Jones BM, Hayward R, Hall CM, Brueton L, Chun N, Lammer E, Malcolm S, Winter RM. Pulleyn LJ, et al. Among authors: wilkes d. Eur J Hum Genet. 1996;4(5):283-91. doi: 10.1159/000472215. Eur J Hum Genet. 1996. PMID: 8946174

7

A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricans.

Wilkes D, Rutland P, Pulleyn LJ, Reardon W, Moss C, Ellis JP, Winter RM, Malcolm S. Wilkes D, et al. J Med Genet. 1996 Sep;33(9):744-8. doi: 10.1136/jmg.33.9.744. J Med Genet. 1996. PMID: 8880573 Free PMC article.

8

Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcolm S, Dean JC, Evans RD, Jones BM, Hayward R, Hall CM, Nevin NC, Baraister M, Winter RM. Reardon W, et al. Among authors: wilkes d. J Med Genet. 1997 Aug;34(8):632-6. doi: 10.1136/jmg.34.8.632. J Med Genet. 1997. PMID: 9279753 Free PMC article.

9

TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction.

Bee KJ, Wilkes DC, Devereux RB, Basson CT, Hatcher CJ. Bee KJ, et al. Circ Cardiovasc Genet. 2012 Dec;5(6):621-9. doi: 10.1161/CIRCGENETICS.112.964064. Epub 2012 Oct 24. Circ Cardiovasc Genet. 2012. PMID: 23099432 Free PMC article.

10

Fibroblast growth factor receptors: lessons from the genes.

Burke D, Wilkes D, Blundell TL, Malcolm S. Burke D, et al. Among authors: wilkes d. Trends Biochem Sci. 1998 Feb;23(2):59-62. doi: 10.1016/s0968-0004(97)01170-5. Trends Biochem Sci. 1998. PMID: 9538690 Review.

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