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Displaying 7 results.
    • Journal article
    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)
    • Journal article
    Phosphoserine phosphatase deficiency in a patient with Williams syndrome
    Jaeken, Jaak Detheux, Michel Fryns, Jean-Pierre Collet, Jean-François[UCL] Alliet, Philippe Van Schaftingen, Emile[UCL] (1997) Journal of Medical Genetics — Vol. 34, no. 7, p. 594-596 (1997)
    • Journal article
    Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.
    Irrthum, Alexandre[UCL] Devriendt, Koenraad Chitayat, David Matthijs, Gert Glade, Conrad Steijlen, Peter M Fryns, Jean-Pierre Van Steensel, Maurice A M Vikkula, Miikka[UCL] (2003) American journal of human genetics — Vol. 72, no. 6, p. 1470-1478 (2003)
    • Journal article
    Chromosome instability is common in human cleavage-stage embryos.
    Vanneste, Evelyne Voet, Thierry Le Caignec, Cédric Ampe, Michèle Konings, Peter Melotte, Cindy Debrock, Sophie Amyere, Mustapha[UCL] Vikkula, Miikka[UCL] Schuit, Frans Fryns, Jean-Pierre Verbeke, Geert D'Hooghe, Thomas Moreau, Yves Vermeesch, Joris R (2009) Nature medicine — Vol. 15, no. 5, p. 577-83 (2009)
    • Journal article
    Autosomal-dominant microtia linked to five tandem copies of a copy-number-variable region at chromosome 4p16.
    Balikova, Irina Martens, Kevin Melotte, Cindy Amyere, Mustapha[UCL] Van Vooren, Steven Moreau, Yves Vetrie, David Fiegler, Heike Carter, Nigel P Liehr, Thomas Vikkula, Miikka[UCL] Matthijs, Gert Fryns, Jean-Pierre Casteels, Ingele Devriendt, Koen Vermeesch, Joris Robert (2008) American journal of human genetics — Vol. 82, no. 1, p. 181-7 (2008)
    • Journal article
    Curcumin for the prevention of progression in monoclonal gammopathy of undetermined significance: A word of caution
    Vermorken, Alphons J. M. Zhu, Jingjing[UCL] Van de Ven, Wim JM Cui, Yali Fryns, Jean-Pierre (2010) Experimental and Therapeutic Medicine — Vol. 1, no.2, p. 265-269 (03/2010)
    • 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)