5 results for author:"Elles R." in Literature citations
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| Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Jackson G.C., Mittaz-Crettol L., Taylor J.A., Mortier G.R., Spranger J., Zabel B., Le Merrer M., Cormier-Daire V., Hall C.M., Offiah A. et al. |
| Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group. Kennedy J., Jackson G.C., Barker F.S., Nundlall S., Bella J., Wright M.J., Mortier G.R., Neas K., Thompson E., Elles R. et al. Hum. Mutat. 25:593-594(2005) · Mapped (8) |
| Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia. Jackson G.C., Barker F.S., Jakkula E., Czarny-Ratajczak M., Maekitie O., Cole W.G., Wright M.J., Smithson S.F., Suri M., Rogala P. et al. |
| Germline mutation of ARF in a melanoma kindred. Hewitt C., Lee Wu C., Evans G., Howell A., Elles R.G., Jordan R., Sloan P., Read A.P., Thakker N. Hum. Mol. Genet. 11:1273-1279(2002) · UniProtKB (1) |
| A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2). Veldhuisen B., Saris J.J., de Haij S., Hayashi T., Reynolds D.M., Mochizuki T., Elles R., Fossdal R., Bogdanova N., van Dijk M.A. et al. Am. J. Hum. Genet. 61:547-555(1997) · UniProtKB (1) |