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Affichage: 13 résultats.
    • Article de périodique
    FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    De Baere, Elfride Beysen, Diane Oley, Christine Lorenz, Birgit Cocquet, Julie De Sutter, Pascal[UCL] Devriendt, Koen Dixon, Michael Fellous, Marc Fryns, Jean-Pierre Garza, Arturo Jonsrud, Christoffer Koivisto, Pasi A. Krause, Amanda Leroy, Bart P. Meire, Françoise Plomp, Astrid Van Maldergem, Lionel De Paepe, Anne Veitia, Reiner Messiaen, Ludwine (2003) American Journal of Human Genetics — Vol. 72, no. 2, p. 478-487 (2003)
    • Article de périodique
    Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain
    Nuytinck, Lieve Wettinck, Karen Freund, Margarida[UCL] Van Maldergem, Lionel Fabry, Guy De Paepe, Anne (1997) European Journal of Human Genetics — Vol. 5, no. 3, p. 161-167 (1997)
    • Article de périodique
    CADM1 is a strong neuroblastoma candidate gene that maps within a 3.72 Mb critical region of loss on 11q23.
    Michels, Evi Hoebeeck, Jasmien De Preter, Katleen Schramm, Alexander Brichard, Bénédicte[UCL] De Paepe, Anne Eggert, Angelika Laureys, Geneviève Vandesompele, Jo Speleman, Frank (2008) BMC cancer — Vol. 8, p. 173 (2008)
    • Article de périodique
    The genetics of familial adenomatous polyposis (FAP) and MutYH-associated polyposis (MAP)
    Claes, Kathleen Dahan, Karin Tejpar, S. De Paepe, Anne Bonduelle, Maryse Abramowicz, Marc Dumoulin, Christine[UCL] Franchimont, Denis Van Cutsem, Eric Kartheuser, Alex[UCL] (2011) Acta Gastro-Enterologica Belgica (Multilingual Edition) — Vol. 74, no. 3, p. 421-426 (2011)
    • Article de périodique
    Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature.
    Revencu, Nicole[UCL] Detaille, Thierry[UCL] Quenum, Geneviève[UCL] De Paepe, Anne Dumoulin, Christine[UCL] Verellen, Gaston[UCL] (2004) European Journal of Pediatrics — Vol. 163, no. 1, p. 33-37 (2004)
    • Article de périodique
    Unequivocal delineation of clinicogenetic subgroups and development of a new model for improved outcome prediction in neuroblastoma.
    Vandesompele, Jo Baudis, Michael De Preter, Katleen Van Roy, Nadine Ambros, Peter Bown, Nick Brinkschmidt, Christian Christiansen, Holger Combaret, Valérie Lastowska, Maria Nicholson, James O'Meara, Anne Plantaz, Dominique Stallings, Raymond Brichard, Bénédicte[UCL] Van den Broecke, Caroline De Bie, Sylvia De Paepe, Anne Laureys, Geneviève Speleman, Frank (2005) Journal of clinical oncology : official journal of the American Society of Clinical Oncology — Vol. 23, no. 10, p. 2280-99 (2005)
    • Article de périodique
    Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome
    Kelley, Brian P. Malfait, Fransiska Bonafe, Luisa Baldridge, Dustin Homan, Erica Symoens, Sofie Willaert, Andy Elcioglu, Nursel Van Maldergem, Lionel Verellen-Dumoulin, Christine[UCL] Gillerot, Yves[UCL] Napierala, Dobrawa Krakow, Deborah Beighton, Peter Superti-Furga, Andrea De Paepe, Anne Lee, Brendan (2011) Journal of Bone and Mineral Research — Vol. 26, no. 3, p. 666-672 (2011)
    • Article de périodique
    EVI1-mediated down regulation of MIR449A is essential for the survival of EVI1 positive leukaemic cells
    De Weer, An Van der Meulen, Joni Rondou, Pieter Taghon, Tom Konrad, Torsten A. De Preter, Katleen Mestdagh, Pieter Van Maerken, Tom Van Roy, Nadine Jeison, Marta Yaniv, Isaac Cauwelier, Barbara Noens, Lucien Poirel, Hélène[UCL] Vandenberghe, Peter Lambert, Frédéric De Paepe, Anne Sánchez, Maria García Odero, Maria Verhasselt, Bruno Philippé, Jan Vandesompele, Joke Wieser, Rotraud Dastugue, Nicole Van Vlierberghe, Pieter Poppe, Bruce Speleman, Frank (2011) British Journal of Haematology — Vol. 154, no. 3, p. 337-348 (2011)
    • Communication
    Novel insights in genotype-phenotype correlations in BPES through in-depth FOXL2 mutation analysis
    De Baere, Elfride Beysen, Diane Oley, C De Sutter, P. Garza, Arturo Jonsrud, Christoffer Koivisto, Pasi A. Leroy, Bart P. Lorenz, B Meire, Françoise Plomp, Astrid Van Maldergem, Lionel De Paepe, Anne Cocquet, Julie Fellous, M Veitia, Reiner Messiaen, Ludwine (2002) 52nd Annual Meeting of the American-Society-of-Human-Genetics — BALTIMORE (Maryland)
    • Article de périodique
    LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development
    Gong, Yaoqin Slee, Roger B. Fukai, Naomi Rawadi, Georges Roman-Roman, Sergio Reginato, Anthony M. Wang, Hongwei Cundy, Tim Glorieux, Francis H. Lev, Dorit Zacharin, Margaret Oexle, Konrad Marcelino, Jose Suwairi, Wafaa Heeger, Shauna Sabatakos, George Apte, Suneel Adkins, William N. Allgrove, Jeremy Arslan-Kirchner, Mine Batch, Jennifer A. Beighton, Peter Black, Graeme C. Boles, Richard G. Boon, Laurence M.[UCL] Borrone, Carla Brunner, Han G. Carle, Georges F. Dallapiccola, Bruno De Paepe, Anne Floege, Barbara Halfhide, Melissa Lees Hall, Bryan Hennekam, Raoul C. Hirose, Tatsuo Jans, Ab Jüppner, Harald Kim, Chong Ae Keppler-Noreuil, Kim Kohlschuetter, Alfred LaCombe, Didier LAMBERT, Marie[UCL] Lemyre, Emmanuelle Letteboer, Tom Peltonen, Leena Ramesar, Rajkumar S. Romanengo, Marta Somer, Hannu Steichen-Gersdorf, Elisabeth Steinmann, Beat Sullivan, Beth Superti-Furga, Andrea Swoboda, Walter van den Boogaard, Marie-José Van Hul, Wim Vikkula, Miikka[UCL] Votruba, Marcela Zabel, Bernhard Garcia, Teresa Baron, Roland Olsen, Bjorn R. Warman, Matthew L. Osteoporosis-Pseudoglioma Syndrome Collaborative Group (2001) Cell — Vol. 107, no.4, p. 513-523 (2001)
    • Article de périodique
    Frequent alterations in the Wnt signaling pathway in colorectal cancer with microsatellite instability
    Van Limbergen, Heidi Poppe, Bruce Michaux, Lucienne[UCL] Herens, Christian Brown, Jill Noens, Luc Berneman, Zwi De Bock, Robrecht De Paepe, Anne[UCL] Speleman, Frank (2002) Genes, Chromosomes & Cancer — Vol. 33, no. 1, p. 73-81 (2002)
    • Article de périodique
    Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?
    Audo, Isabelle Vanakker, Olivier M. Smith, Alaric Leroy, Bart P. Robson, Anthony G. Jenkins, Sharon A. Coucke, Paul J. Bird, Alan C. De Paepe, Anne Holder, Graham E. Webster, Andrew R. (2007) Investigative Ophthalmology & Visual Science — Vol. 48, no. 9, p. 4250-4256 (2007)
    • Communication
    Downregulation of MiR-449a Is Essential for the Survival of EVII Positive Leukemic Cells through Modulation of NOTCH1 and BCL2
    De Weer, An Mestdagh, Pieter De Preter, Katleen Van der Meulen, Joni Van Vlierberghe, Pieter Van Maerken, Tom Van Roy, Nadine Jeison, Marta Yaniv, Isaac Cauwelier, Barbara Noens, Lucien Poirel, Helene-Antoine[UCL] Vandenberghe, Peter[UCL] Lambert, Frederic De Paepe, Anne Konrad, Torsten Wieser, Rotraud Garcia Sanchez, Maria Odero, Maria Verhasselt, Bruno Philippe, Jan Vandesompele, Jo Dastugue, Nicole Poppe, Bruce Speleman, Frank (2009) 51st Annual Meeting of the American-Society-of-Hematology — New Orleans (La)