Wilkie AO - Search Results

1

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.

Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, et al. Wilkie AO, et al. Nat Genet. 1995 Feb;9(2):165-72. doi: 10.1038/ng0295-165. Nat Genet. 1995. PMID: 7719344

2

A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n.

Wilkie AO, Lamb J, Harris PC, Finney RD, Higgs DR. Wilkie AO, et al. Nature. 1990 Aug 30;346(6287):868-71. doi: 10.1038/346868a0. Nature. 1990. PMID: 1975428

3

Functions of fibroblast growth factors and their receptors.

Wilkie AO, Morriss-Kay GM, Jones EY, Heath JK. Wilkie AO, et al. Curr Biol. 1995 May 1;5(5):500-7. doi: 10.1016/s0960-9822(95)00102-3. Curr Biol. 1995. PMID: 7583099 Free article. Review.

4

Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

Oldridge M, Wilkie AO, Slaney SF, Poole MD, Pulleyn LJ, Rutland P, Hockley AD, Wake MJ, Goldin JH, Winter RM, et al. Oldridge M, et al. Among authors: wilkie ao. Hum Mol Genet. 1995 Jun;4(6):1077-82. doi: 10.1093/hmg/4.6.1077. Hum Mol Genet. 1995. PMID: 7655462

5

DNA testing for fragile X syndrome in schools for learning difficulties.

Slaney SF, Wilkie AO, Hirst MC, Charlton R, McKinley M, Pointon J, Christodoulou Z, Huson SM, Davies KE. Slaney SF, et al. Among authors: wilkie ao. Arch Dis Child. 1995 Jan;72(1):33-7. doi: 10.1136/adc.72.1.33. Arch Dis Child. 1995. PMID: 7717734 Free PMC article.

6

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation.

Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. Flint J, et al. Among authors: wilkie ao. Nat Genet. 1995 Feb;9(2):132-40. doi: 10.1038/ng0295-132. Nat Genet. 1995. PMID: 7719339

7

Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.

Wilkie AO, Yang SP, Summers D, Poole MD, Reardon W, Winter RM. Wilkie AO, et al. J Med Genet. 1995 Mar;32(3):174-80. doi: 10.1136/jmg.32.3.174. J Med Genet. 1995. PMID: 7783164 Free PMC article.

8

Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2.

Rose CS, King AA, Summers D, Palmer R, Yang S, Wilkie AO, Reardon W, Malcolm S, Winter RM. Rose CS, et al. Among authors: wilkie ao. Hum Mol Genet. 1994 Aug;3(8):1405-8. doi: 10.1093/hmg/3.8.1405. Hum Mol Genet. 1994. PMID: 7987323

9

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

Slaney SF, Oldridge M, Hurst JA, Moriss-Kay GM, Hall CM, Poole MD, Wilkie AO. Slaney SF, et al. Among authors: wilkie ao. Am J Hum Genet. 1996 May;58(5):923-32. Am J Hum Genet. 1996. PMID: 8651276 Free PMC article.

10

Exclusive paternal origin of new mutations in Apert syndrome.

Moloney DM, Slaney SF, Oldridge M, Wall SA, Sahlin P, Stenman G, Wilkie AO. Moloney DM, et al. Among authors: wilkie ao. Nat Genet. 1996 May;13(1):48-53. doi: 10.1038/ng0596-48. Nat Genet. 1996. PMID: 8673103

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