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Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
Tarpey PS, Raymond FL, O'Meara S, Edkins S, Teague J, Butler A, Dicks E, Stevens C, Tofts C, Avis T, Barthorpe S, Buck G, Cole J, Gray K, Halliday K, Harrison R, Hills K, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Varian J, West S, Widaa S, Mallya U, Moon J, Luo Y, Holder S, Smithson SF, Hurst JA, Clayton-Smith J, Kerr B, Boyle J, Shaw M, Vandeleur L, Rodriguez J, Slaugh R, Easton DF, Wooster R, Bobrow M, Srivastava AK, Stevenson RE, Schwartz CE, Turner G, Gecz J, Futreal PA, Stratton MR, Partington M. Tarpey PS, et al. Among authors: easton df. Am J Hum Genet. 2007 Feb;80(2):345-52. doi: 10.1086/511134. Epub 2007 Jan 4. Am J Hum Genet. 2007. PMID: 17236139 Free PMC article.
Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21.
Steichen-Gersdorf E, Gallion HH, Ford D, Girodet C, Easton DF, DiCioccio RA, Evans G, Ponder MA, Pye C, Mazoyer S, et al. Steichen-Gersdorf E, et al. Among authors: easton df. Am J Hum Genet. 1994 Nov;55(5):870-5. Am J Hum Genet. 1994. PMID: 7977348 Free PMC article.
Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Zelada-Hedman M, et al. Ford D, et al. Among authors: easton df. Am J Hum Genet. 1998 Mar;62(3):676-89. doi: 10.1086/301749. Am J Hum Genet. 1998. PMID: 9497246 Free PMC article.
Allelotype of uterine leiomyomas.
Mao X, Barfoot R, Hamoudi RA, Easton DF, Flanagan AM, Stratton MR. Mao X, et al. Among authors: easton df. Cancer Genet Cytogenet. 1999 Oct 15;114(2):89-95. doi: 10.1016/s0165-4608(99)00053-9. Cancer Genet Cytogenet. 1999. PMID: 10549262
892 results