No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

by Schlögel, Matthieu J, Mendola, Antonella, Fastré, Elodie, Vasudevan, Pradeep, Devriendt, Koen, de Ravel, Thomy JL, Van Esch, Hilde, Casteels, Ingele, Arroyo Carrera, Ignacio, Cristofoli, Francesca, Fieggen, Karen, Jones, Katheryn, Lipson, Mark, Balikova, Irina, Singer, Ami, Soller, Maria, Mercedes Villanueva, María, Revencu, Nicole, Boon, Laurence M, Brouillard, Pascal, Vikkula, Miikka
Published 2015

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

by 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.
Published 2011