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Mutations in PTF1A cause pancreatic and cerebellar agenesis.
Sellick GS, Barker KT, Stolte-Dijkstra I, Fleischmann C, Coleman RJ, Garrett C, Gloyn AL, Edghill EL, Hattersley AT, Wellauer PK, Goodwin G, Houlston RS. Sellick GS, et al. Among authors: houlston rs. Nat Genet. 2004 Dec;36(12):1301-5. doi: 10.1038/ng1475. Epub 2004 Nov 14. Nat Genet. 2004. PMID: 15543146
Linkage analysis of candidate regions for coeliac disease genes.
Houlston RS, Tomlinson IP, Ford D, Seal S, Marossy AM, Ferguson A, Holmes GK, Hosie KB, Howdle PD, Jewell DP, Godkin A, Kerr GD, Kumar P, Logan RF, Love AH, Johnston S, Marsh MN, Mitton S, O'Donoghue D, Roberts A, Walker-Smith JA, Stratton MF. Houlston RS, et al. Hum Mol Genet. 1997 Aug;6(8):1335-9. doi: 10.1093/hmg/6.8.1335. Hum Mol Genet. 1997. PMID: 9259281
Familial nontoxic multinodular thyroid goiter locus maps to chromosome 14q but does not account for familial nonmedullary thyroid cancer.
Bignell GR, Canzian F, Shayeghi M, Stark M, Shugart YY, Biggs P, Mangion J, Hamoudi R, Rosenblatt J, Buu P, Sun S, Stoffer SS, Goldgar DE, Romeo G, Houlston RS, Narod SA, Stratton MR, Foulkes WD. Bignell GR, et al. Among authors: houlston rs. Am J Hum Genet. 1997 Nov;61(5):1123-30. doi: 10.1086/301610. Am J Hum Genet. 1997. PMID: 9345104 Free PMC article.
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: houlston rs. 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.
PTEN mutations are uncommon in Proteus syndrome.
Barker K, Martinez A, Wang R, Bevan S, Murday V, Shipley J, Houlston R, Harper J. Barker K, et al. J Med Genet. 2001 Jul;38(7):480-1. doi: 10.1136/jmg.38.7.480. J Med Genet. 2001. PMID: 11476065 Free PMC article. No abstract available.
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. Among authors: houlston rs. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
786 results