Slaney SF - Search Results

1

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: slaney sf. Hum Mol Genet. 1995 Jun;4(6):1077-82. doi: 10.1093/hmg/4.6.1077. Hum Mol Genet. 1995. PMID: 7655462

2

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. Among authors: slaney sf. Nat Genet. 1995 Feb;9(2):165-72. doi: 10.1038/ng0295-165. Nat Genet. 1995. PMID: 7719344

3

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, et al. Rutland P, et al. Among authors: slaney sf. Nat Genet. 1995 Feb;9(2):173-6. doi: 10.1038/ng0295-173. Nat Genet. 1995. PMID: 7719345

4

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. Am J Hum Genet. 1996 May;58(5):923-32. Am J Hum Genet. 1996. PMID: 8651276 Free PMC article.

5

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: slaney sf. Nat Genet. 1996 May;13(1):48-53. doi: 10.1038/ng0596-48. Nat Genet. 1996. PMID: 8673103

6

Craniofrontonasal dysplasia.

Orr DJ, Slaney S, Ashworth GJ, Poole MD. Orr DJ, et al. Br J Plast Surg. 1997 Apr;50(3):153-61. doi: 10.1016/s0007-1226(97)91362-x. Br J Plast Surg. 1997. PMID: 9176000

7

Another case of the autosomal recessive Weaver-like syndrome.

Slaney SF, Winter RM. Slaney SF, et al. Am J Med Genet. 1997 Oct 31;72(3):369-70. Am J Med Genet. 1997. PMID: 9332672 No abstract available.

8

Hemifacial hypoplasia and hypomelanosis of Ito.

Tan ST, Slaney SF, Ashworth G, Poole MD. Tan ST, et al. Among authors: slaney sf. J Craniomaxillofac Surg. 1995 Oct;23(5):274-9. doi: 10.1016/s1010-5182(05)80156-8. J Craniomaxillofac Surg. 1995. PMID: 8530701

9

A new syndrome of short stature, distinctive facial features and periventricular grey matter heterotopia.

Slaney SF, Chong WK, Winter RM. Slaney SF, et al. Clin Dysmorphol. 1999 Jan;8(1):5-9. Clin Dysmorphol. 1999. PMID: 10327244

10

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. 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.

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