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Page 1
Genome-wide analysis of Ollier disease: Is it all in the genes?
Pansuriya TC, Oosting J, Krenács T, Taminiau AH, Verdegaal SH, Sangiorgi L, Sciot R, Hogendoorn PC, Szuhai K, Bovée JV. Pansuriya TC, et al. Orphanet J Rare Dis. 2011 Jan 14;6:2. doi: 10.1186/1750-1172-6-2. Orphanet J Rare Dis. 2011. PMID: 21235737 Free PMC article.
Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
Bowen ME, Boyden ED, Holm IA, Campos-Xavier B, Bonafé L, Superti-Furga A, Ikegawa S, Cormier-Daire V, Bovée JV, Pansuriya TC, de Sousa SB, Savarirayan R, Andreucci E, Vikkula M, Garavelli L, Pottinger C, Ogino T, Sakai A, Regazzoni BM, Wuyts W, Sangiorgi L, Pedrini E, Zhu M, Kozakewich HP, Kasser JR, Seidman JG, Kurek KC, Warman ML. Bowen ME, et al. Among authors: pansuriya tc. PLoS Genet. 2011 Apr;7(4):e1002050. doi: 10.1371/journal.pgen.1002050. Epub 2011 Apr 14. PLoS Genet. 2011. PMID: 21533187 Free PMC article.
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.
Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV. Pansuriya TC, et al. Nat Genet. 2011 Nov 6;43(12):1256-61. doi: 10.1038/ng.1004. Nat Genet. 2011. PMID: 22057234 Free PMC article.
Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients.
Verdegaal SH, Bovée JV, Pansuriya TC, Grimer RJ, Ozger H, Jutte PC, San Julian M, Biau DJ, van der Geest IC, Leithner A, Streitbürger A, Klenke FM, Gouin FG, Campanacci DA, Marec-Berard P, Hogendoorn PC, Brand R, Taminiau AH. Verdegaal SH, et al. Among authors: pansuriya tc. Oncologist. 2011;16(12):1771-9. doi: 10.1634/theoncologist.2011-0200. Epub 2011 Dec 6. Oncologist. 2011. PMID: 22147000 Free PMC article.