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Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43.
Alam NA, Bevan S, Churchman M, Barclay E, Barker K, Jaeger EE, Nelson HM, Healy E, Pembroke AC, Friedmann PS, Dalziel K, Calonje E, Anderson J, August PJ, Davies MG, Felix R, Munro CS, Murdoch M, Rendall J, Kennedy S, Leigh IM, Kelsell DP, Tomlinson IP, Houlston RS. Alam NA, et al. Among authors: kelsell dp. Am J Hum Genet. 2001 May;68(5):1264-9. doi: 10.1086/320124. Epub 2001 Mar 14. Am J Hum Genet. 2001. PMID: 11283798 Free PMC article.
Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.
Chavanas S, Garner C, Bodemer C, Ali M, Teillac DH, Wilkinson J, Bonafé JL, Paradisi M, Kelsell DP, Ansai Si, Mitsuhashi Y, Larrègue M, Leigh IM, Harper JI, Taïeb A, Prost Yd, Cardon LR, Hovnanian A. Chavanas S, et al. Among authors: kelsell dp. Am J Hum Genet. 2000 Mar;66(3):914-21. doi: 10.1086/302824. Am J Hum Genet. 2000. PMID: 10712206 Free PMC article.
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. Hum Mol Genet. 2003 Jun 1;12(11):1241-52. doi: 10.1093/hmg/ddg148. Hum Mol Genet. 2003. PMID: 12761039
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Tomlinson IP, et al. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
Novel microsatellite markers and single nucleotide polymorphisms refine the tylosis with oesophageal cancer (TOC) minimal region on 17q25 to 42.5 kb: sequencing does not identify the causative gene.
Langan JE, Cole CG, Huckle EJ, Byrne S, McRonald FE, Rowbottom L, Ellis A, Shaw JM, Leigh IM, Kelsell DP, Dunham I, Field JK, Risk JM. Langan JE, et al. Among authors: kelsell dp. Hum Genet. 2004 May;114(6):534-40. doi: 10.1007/s00439-004-1100-3. Epub 2004 Mar 9. Hum Genet. 2004. PMID: 15007728
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