Genome-wide analysis of Ollier disease: Is it all in the genes?

por Pansuriya, Twinkal C, Oosting, Jan, Krenács, Tibor, Taminiau, Antonie HM, Verdegaal, Suzan HM, Sangiorgi, Luca, Sciot, Raf, Hogendoorn, Pancras CW, Szuhai, Karoly, Bovée, Judith VMG
Publicado 2011

Loss-of-Function Mutations in PTPN11 Cause Metachondromatosis, but Not Ollier Disease or Maffucci Syndrome

por Bowen, Margot E., Boyden, Eric D., Holm, Ingrid A., Campos-Xavier, Belinda, Bonafé, Luisa, Superti-Furga, Andrea, Ikegawa, Shiro, Cormier-Daire, Valerie, Bovée, Judith V., Pansuriya, Twinkal C., de Sousa, Sérgio B., Savarirayan, Ravi, Andreucci, Elena, Vikkula, Miikka, Garavelli, Livia, Pottinger, Caroline, Ogino, Toshihiko, Sakai, Akinori, Regazzoni, Bianca M., Wuyts, Wim, Sangiorgi, Luca, Pedrini, Elena, Zhu, Mei, Kozakewich, Harry P., Kasser, James R., Seidman, Jon G., Kurek, Kyle C., Warman, Matthew L.
Publicado 2011

Somatic mosaic IDH1 or IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

por Pansuriya, Twinkal C., van Eijk, Ronald, Adamo, Pio d', van Ruler, Maayke A.J.H., Kuijjer, Marieke L., Oosting, Jan, Cleton-Jansen, Anne-Marie, van Oosterwijk, Jolieke G., Verbeke, Sofie L.J., Meijer, Daniëlle, van Wezel, Tom, Nord, Karolin H., Sangiorgi, Luca, Toker, Berkin, Liegl-Atzwanger, Bernadette, San-Julian, Mikel, Sciot, Raf, Limaye, Nisha, Kindblom, Lars-Gunnar, Daugaard, Soeren, Godfraind, Catherine, Boon, Laurence M., Vikkula, Miikka, Kurek, Kyle C., Szuhai, Karoly, French, Pim J., Bovée, Judith V.M.G.
Publicado 2011