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Adult-onset leukoencephalopathies with vanishing white matter with novel missense mutations in EIF2B2, EIF2B3, and EIF2B5.
Matsukawa T, Wang X, Liu R, Wortham NC, Onuki Y, Kubota A, Hida A, Kowa H, Fukuda Y, Ishiura H, Mitsui J, Takahashi Y, Aoki S, Takizawa S, Shimizu J, Goto J, Proud CG, Tsuji S. Matsukawa T, et al. Among authors: wortham nc. Neurogenetics. 2011 Aug;12(3):259-61. doi: 10.1007/s10048-011-0284-7. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484434 No abstract available.
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations.
Carvajal-Carmona LG, Alam NA, Pollard PJ, Jones AM, Barclay E, Wortham N, Pignatelli M, Freeman A, Pomplun S, Ellis I, Poulsom R, El-Bahrawy MA, Berney DM, Tomlinson IP. Carvajal-Carmona LG, et al. J Clin Endocrinol Metab. 2006 Aug;91(8):3071-5. doi: 10.1210/jc.2006-0183. Epub 2006 Jun 6. J Clin Endocrinol Metab. 2006. PMID: 16757530
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency.
Alam NA, Rowan AJ, Wortham NC, Pollard PJ, Mitchell M, Tyrer JP, Barclay E, Calonje E, Manek S, Adams SJ, Bowers PW, Burrows NP, Charles-Holmes R, Cook LJ, Daly BM, Ford GP, Fuller LC, Hadfield-Jones SE, Hardwick N, Highet AS, Keefe M, MacDonald-Hull SP, Potts ED, Crone M, Wilkinson S, Camacho-Martinez F, Jablonska S, Ratnavel R, MacDonald A, Mann RJ, Grice K, Guillet G, Lewis-Jones MS, McGrath H, Seukeran DC, Morrison PJ, Fleming S, Rahman S, Kelsell D, Leigh I, Olpin S, Tomlinson IP. Alam NA, et al. Among authors: wortham nc. Hum Mol Genet. 2003 Jun 1;12(11):1241-52. doi: 10.1093/hmg/ddg148. Hum Mol Genet. 2003. PMID: 12761039
Dercum's disease.
Wortham NC, Tomlinson IP. Wortham NC, et al. Skinmed. 2005 May-Jun;4(3):157-62; quiz 163-4. doi: 10.1111/j.1540-9740.2005.03675.x. Skinmed. 2005. PMID: 15891252 Review.
20 results