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American Journal of Human Genetics|October 1, 1992
Pelizaeus-Merzbacher disease: detection of mutations Thr181----Pro and Leu223----Pro in the proteolipid protein gene, and prenatal diagnosisS Strautnieks, P Rutland, R M Winter, et al.Diabetologia|February 1, 1975
Diurnal variation in the effects of insulin on blood glucose, plasma non-esterified fatty acids and growth hormoneT Gibson, L Stimmler, R J Jarrett, et al.Human Mutation|January 1, 1996
Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndromeF Katz, S Hinshelwood, P Rutland, 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.Human Genetics|December 1, 1990
The major cystic fibrosis mutation in a British populationC J McMahon, S A Genet, H R Middleton-Price, 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.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|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 3