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Displaying 8 results.
    • Journal article
    Recent developments in neurofibromatoses and RASopathies: Management, diagnosis and current and future therapeutic avenues
    Rauen, Katherine A. Huson, Susan M. Burkitt-Wright, Emma Evans, D. Gareth Farschtschi, Said Ferner, Rosalie E. Gutmann, David H. Hanemann, C. Oliver Kerr, Bronwyn Legius, Eric Parada, Luis F. Patton, Michael Peltonen, Juha Ratner, Nancy Riccardi, Vincent M. van der Vaart, Thijs Vikkula, Miikka[UCL] Viskochil, David H. Zenker, Martin Upadhyaya, Meena (2015) American Journal of Medical Genetics. Part A — Vol. 167, no.1, p. 1-10 (2015)
    • Journal article
    Second polar body inclusion results in diploid/triploid mixoploidy
    Brems, H. Vogels, A. Ribai, P De Raedt, T Fryns, JP. Legius, Eric[UCL] (2003) Genetic Counseling — Vol. 14, no. 4, p. 425-429 (2003)
    • Journal article
    Tumor Spectrum in Children With Noonan Syndrome and SOS1 or RAF1 Mutations
    Denayer, Ellen[UCL] Devriendt, Koen[UCL] de Ravel, Thomy[UCL] Van Buggenhout, Griet[UCL] Smeets, Eric[UCL] Francois, Inge[UCL] Sznajer, Yves Craen, Margarita Leventopoulos, George Mutesa, Leon Vandecasseye, Willy[UCL] Massa, Guy Kayserili, Hulya Sciot, Raf[UCL] Fryns, Jean-Pierre[UCL] Legius, Eric[UCL] (2010) Genes, Chromosomes & Cancer — Vol. 49, no. 3, p. 242-252 (2010)
    • Journal article
    Therapy-related acute myeloid leukemia in a child with Noonan syndrome and clonal duplication of the germline PTPN11 mutation.
    Chantrain, Christophe[UCL] Jijon, Priscilla[UCL] De Raedt, Thomas[UCL] Vermylen, Christiane[UCL] Poirel, Hélène[UCL] Legius, Eric[UCL] Brichard, Bénédicte[UCL] (2007) Pediatric Blood & Cancer — Vol. 48, no. 1, p. 101-104 (2007)
    • Journal article
    Holoprosencephaly and Postaxial Polydactyly With Normal Chromosomes - Another Observation of a New Malformation Syndrome - a Case-report
    Ramaekers, PR. Legius, Eric[UCL] Verloes, A. Gillerot, Y. Vandenberghe, K. Fryns, JP. (1990) European Journal of Obstetrics & Gynecology and Reproductive Biology — Vol. 36, no. 1-2, p. 161-165 (1990)
    • Journal article
    A study of the cognitive and psychological profile in 16 children with congenital or juvenile myotonic dystrophy
    Steyaert, J. Umans, S Willekens, D Legius, Eric[UCL] Pijkels, E deDieSmulders, C Vandenberghe, Hans Fryns, JP. (1997) Clinical Genetics : an international journal of genetics and molecular medicine — Vol. 52, no. 3, p. 135-141 (1997)
    • Journal article
    Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
    Marie, S. Cuppens, Harry[UCL] Heuterspreute, M Jaspers, Martine[UCL] Tola, E Z Gu, X X Legius, Eric[UCL] Vincent, Marie-Françoise[UCL] Jaeken, J. Cassiman, J J Van den Berghe, Georges[UCL] (1999) Human mutation — Vol. 13, no. 3, p. 197-202 (1999)
    • Journal article
    Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.
    De Leeneer, Kim Van Bockstal, Mieke[UCL] De Brouwer, Sara Swietek, Natalia Schietecatte, Peter Sabbaghian, Nelly Van den Ende, Jenneke Willocx, Sandra Storm, Katrien Blaumeiser, Bettina Van Asperen, Christi J Wijnen, Juul T Leunen, Karin Legius, Eric Michils, Geneviève Matthijs, Geert Blok, Marinus J Gómez-García, Encarna De Paepe, An Tischkowitz, Marc Poppe, Bruce Claes, Kathleen (2012) Breast cancer research and treatment — Vol. 133, no. 1, p. 393-398 (2012)