Pulleyn LJ - 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: pulleyn lj. 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: pulleyn lj. 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: pulleyn lj. Nat Genet. 1995 Feb;9(2):173-6. doi: 10.1038/ng0295-173. Nat Genet. 1995. PMID: 7719345

4

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Reardon W, et al. Among authors: pulleyn lj. Nat Genet. 1994 Sep;8(1):98-103. doi: 10.1038/ng0994-98. Nat Genet. 1994. PMID: 7987400

5

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. Among authors: pulleyn lj. 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.

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. Eur J Hum Genet. 1996;4(5):283-91. doi: 10.1159/000472215. Eur J Hum Genet. 1996. PMID: 8946174

7

A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome.

Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, et al. Muenke M, et al. Among authors: pulleyn lj. Nat Genet. 1994 Nov;8(3):269-74. doi: 10.1038/ng1194-269. Nat Genet. 1994. PMID: 7874169

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: pulleyn lj. 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

Further evidence from two families that craniofrontonasal dysplasia maps to Xp22.

Pulleyn LJ, Winter RM, Reardon W, McKeown C, Jones B, Hayward R, Evans R, Malcolm S. Pulleyn LJ, et al. Clin Genet. 1999 Jun;55(6):473-7. doi: 10.1034/j.1399-0004.1999.550613.x. Clin Genet. 1999. PMID: 10450866

10

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment.

Hutchin TP, Parker MJ, Young ID, Davis AC, Pulleyn LJ, Deeble J, Lench NJ, Markham AF, Mueller RF. Hutchin TP, et al. Among authors: pulleyn lj. J Med Genet. 2000 Sep;37(9):692-4. doi: 10.1136/jmg.37.9.692. J Med Genet. 2000. PMID: 10978361 Free PMC article.

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