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The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE).
Rowe PS, Goulding JN, Francis F, Oudet C, Econs MJ, Hanauer A, Lehrach H, Read AP, Mountford RC, Summerfield T, Weissenbach J, Fraser W, Drezner MK, Davies KE, O'Riordan JL. Rowe PS, et al. Among authors: fraser w. Hum Genet. 1996 Mar;97(3):345-52. doi: 10.1007/BF02185769. Hum Genet. 1996. PMID: 8786079
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
Albagha OM, Wani SE, Visconti MR, Alonso N, Goodman K, Brandi ML, Cundy T, Chung PY, Dargie R, Devogelaer JP, Falchetti A, Fraser WD, Gennari L, Gianfrancesco F, Hooper MJ, Van Hul W, Isaia G, Nicholson GC, Nuti R, Papapoulos S, Montes Jdel P, Ratajczak T, Rea SL, Rendina D, Gonzalez-Sarmiento R, Di Stefano M, Ward LC, Walsh JP, Ralston SH; Genetic Determinants of Paget's Disease (GDPD) Consortium. Albagha OM, et al. Among authors: fraser wd. Nat Genet. 2011 May 29;43(7):685-9. doi: 10.1038/ng.845. Nat Genet. 2011. PMID: 21623375 Free article.
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.
Albagha OM, Visconti MR, Alonso N, Langston AL, Cundy T, Dargie R, Dunlop MG, Fraser WD, Hooper MJ, Isaia G, Nicholson GC, del Pino Montes J, Gonzalez-Sarmiento R, di Stefano M, Tenesa A, Walsh JP, Ralston SH. Albagha OM, et al. Nat Genet. 2010 Jun;42(6):520-4. doi: 10.1038/ng.562. Epub 2010 May 2. Nat Genet. 2010. PMID: 20436471 Free PMC article.
1,017 results