Trisomy 19 ependymoma, a newly recognized genetico-histological association, including clear cell ependymoma

by Rousseau, Emmanuel, Palm, Thomas, Scaravilli, Francesco, Ruchoux, Marie-Magdeleine, Figarella-Branger, Dominique, Salmon, Isabelle, Ellison, David, Lacroix, Catherine, Chapon, Françoise, Mikol, Jacqueline, Vikkula, Miikka, Godfraind, Catherine
Published 2007

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

by de la Dure-Molla, Muriel, Quentric, Mickael, Yamaguti, Paulo Marcio, Acevedo, Ana-Carolina, Mighell, Alan J, Vikkula, Miikka, Huckert, Mathilde, Berdal, Ariane, Bloch-Zupan, Agnes
Published 2014

STK39 and WNK1 Are Potential Hypertension Susceptibility Genes in the BELHYPGEN Cohort

by Persu, Alexandre, Evenepoel, Lucie, Jin, Yu, Mendola, Antonella, Ngueta, Gérard, Yang, Wen-Yi, Gruson, Damien, Horman, Sandrine, Staessen, Jan A., Vikkula, Miikka
Published 2016

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

Correction: Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies

by Duhoux, Francois P., Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Lambert, Frédéric, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Labis, Elise, Taviaux, Sylvie, Chapiro, Elise, Nguyen-Khac, Florence, Struski, Stéphanie, Dobbelstein, Sophie, Dastugue, Nicole, Lippert, Eric, Speleman, Frank, Van Roy, Nadine, De Weer, An, Rack, Katrina, Talmant, Pascaline, Richebourg, Steven, Mugneret, Francine, Tigaud, Isabelle, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Nadal, Nathalie, Terré, Christine, Libouton, Jeanne-Marie, Decottignies, Anabelle, Vikkula, Miikka, Poirel, Hélène A.
Published 2011

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

by 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.
Published 2011

Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies

by Duhoux, Francois P., Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Lambert, Frédéric, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Labis, Elise, Taviaux, Sylvie, Chapiro, Elise, Khac, Florence Nguyen, Struski, Stéphanie, Dobbelstein, Sophie, Dastugue, Nicole, Lippert, Eric, Speleman, Frank, Van Roy, Nadine, De Weer, An, Rack, Katrina, Talmant, Pascaline, Richebourg, Steven, Mugneret, Francine, Tigaud, Isabelle, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Nadal, Nathalie, Terré, Christine, Libouton, Jeanne-Marie, Decottignies, Anabelle, Vikkula, Miikka, Poirel, Hélène A.
Published 2011

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

Nephrocalcinosis (Enamel Renal Syndrome) Caused by Autosomal Recessive FAM20A Mutations

by Jaureguiberry, Graciana, De la Dure-Molla, Muriel, Parry, David, Quentric, Mickael, Himmerkus, Nina, Koike, Toshiyasu, Poulter, James, Klootwijk, Enriko, Robinette, Steven L., Howie, Alexander J., Patel, Vaksha, Figueres, Marie-Lucile, Stanescu, Horia C., Issler, Naomi, Nicholson, Jeremy K., Bockenhauer, Detlef, Laing, Christopher, Walsh, Stephen B., McCredie, David A., Povey, Sue, Asselin, Audrey, Picard, Arnaud, Coulomb, Aurore, Medlar, Alan J., Bailleul-Forestier, Isabelle, Verloes, Alain, Le Caignec, Cedric, Roussey, Gwenaelle, Guiol, Julien, Isidor, Bertrand, Logan, Clare, Shore, Roger, Johnson, Colin, Inglehearn, Christopher, Al-Bahlani, Suhaila, Schmittbuhl, Matthieu, Clauss, François, Huckert, Mathilde, Laugel, Virginie, Ginglinger, Emmanuelle, Pajarola, Sandra, Spartà, Giuseppina, Bartholdi, Deborah, Rauch, Anita, Addor, Marie-Claude, Yamaguti, Paulo M., Safatle, Heloisa P., Acevedo, Ana Carolina, Martelli-Júnior, Hercílio, dos Santos Netos, Pedro E., Coletta, Ricardo D., Gruessel, Sandra, Sandmann, Carolin, Ruehmann, Denise, Langman, Craig B., Scheinman, Steven J., Ozdemir-Ozenen, Didem, Hart, Thomas C., Hart, P. Suzanne, Neugebauer, Ute, Schlatter, Eberhard, Houillier, Pascal, Gahl, William A., Vikkula, Miikka, Bloch-Zupan, Agnès, Bleich, Markus, Kitagawa, Hiroshi, Unwin, Robert J., Mighell, Alan, Berdal, Ariane, Kleta, Robert
Published 2013