Reardon W - Search Results

1

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: reardon w. Nat Genet. 1994 Nov;8(3):269-74. doi: 10.1038/ng1194-269. Nat Genet. 1994. PMID: 7874169

2

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: reardon w. Nat Genet. 1995 Feb;9(2):173-6. doi: 10.1038/ng0295-173. Nat Genet. 1995. PMID: 7719345

3

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. Nat Genet. 1994 Sep;8(1):98-103. doi: 10.1038/ng0994-98. Nat Genet. 1994. PMID: 7987400

4

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

5

Fibroblast growth factor receptor-2 mutations in craniosynostosis.

Malcolm S, Reardon W. Malcolm S, et al. Among authors: reardon w. Ann N Y Acad Sci. 1996 Jun 8;785:164-70. doi: 10.1111/j.1749-6632.1996.tb56255.x. Ann N Y Acad Sci. 1996. PMID: 8702123 Review. No abstract available.

6

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: reardon w. 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.

7

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. 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.

8

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. Among authors: reardon w. Clin Genet. 1999 Jun;55(6):473-7. doi: 10.1034/j.1399-0004.1999.550613.x. Clin Genet. 1999. PMID: 10450866

9

Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter.

Reardon W, van Herwerden L, Rose C, Jones B, Malcolm S, Winter RM. Reardon W, et al. J Med Genet. 1994 Mar;31(3):219-21. doi: 10.1136/jmg.31.3.219. J Med Genet. 1994. PMID: 8014970 Free PMC article.

10

Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p--and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q.

van Herwerden L, Rose CS, Reardon W, Brueton LA, Weissenbach J, Malcolm S, Winter RM. van Herwerden L, et al. Among authors: reardon w. Am J Hum Genet. 1994 Apr;54(4):669-74. Am J Hum Genet. 1994. PMID: 8128964 Free PMC article.

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