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Human Genetics|January 26, 2002
TGFbeta1 allele association with asthma severityL J Pulleyn, R Newton, I M Adcock, et al.Nature Genetics|September 1, 1994
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndromeW Reardon, R M Winter, P Rutland, et al.Clinical Genetics|August 18, 1999
Further evidence from two families that craniofrontonasal dysplasia maps to Xp22L J Pulleyn, R M Winter, W Reardon, et al.Journal of Medical Genetics|September 1, 1996
A recurrent mutation, ala391glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis nigricansD Wilkes, P Rutland, L J Pulleyn, et al.Nature Genetics|February 1, 1995
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypesP Rutland, L J Pulleyn, W Reardon, et al.Nature Genetics|November 1, 1994
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndromeM Muenke, U Schell, A Hehr, et al.Journal of Medical Genetics|September 9, 2000
A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairmentT P Hutchin, M J Parker, I D Young, et al.Human Molecular Genetics|June 1, 1995
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndromeM Oldridge, A O Wilkie, S F Slaney, et al.European Journal of Human Genetics : EJHG|February 15, 2001
A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31L J Pulleyn, A P Jackson, E Roberts, et al.European Journal of Human Genetics : EJHG|January 1, 1996
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locusL J Pulleyn, W Reardon, D Wilkes, et al.Pageof 2