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Displaying 4 results.
    • Journal article
    Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
    Hannes, F. D.[UCL] Sharp, A. J. Mefford, H. C. de Ravel, Thomy[UCL] Ruivenkamp, C. A. Breuning, M. H. Fryns, J-P[UCL] Devriendt, Koenraad[UCL] Van Buggenhout, Griet[UCL] Vogels, A.[UCL] Stewart, H. Hennekam, R. C.[UCL] Cooper, G. M. Regan, R. Knight, S. J. L. Eichler, E. E. Vermeesch, J. R.[UCL] (2009) Journal of Medical Genetics : an international peer-reviewed journal for health professionals and researchers in all areas of genetics — Vol. 46, no. 4, p. 223-232 (2009)
    • Journal article
    Molecular analysis of SALL1 mutations in Townes-Brocks syndrome
    Kohlhase, J Taschner, PEM Burfeind, P Pasche, B Newman, B Blanck, C Breuning, M. H. ten Kate, LP Maaswinkel-Mooy, P Mitulla, B Seidel, J Kirkpatrick, SJ Pauli, RM Wargowski, DS Devriendt, Koenraad[UCL] Proesmans, W. Gabrielli, O Coppa, GV Wesby-van Swaay, E Trembath, RC Schinzel, AA Reardon, W. Seemanova, E Engel, W (1999) American Journal of Human Genetics — Vol. 64, no. 2, p. 435-445 (1999)
    • Journal article
    Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2.
    Pirson, Yves[UCL] Lannoy, N. Peters, D. Geubel, André[UCL] Gigot, Jean-François[UCL] Breuning, M. H. Dumoulin, Christine[UCL] (1996) Hepatology (Baltimore, Md.) — Vol. 23, no. 2, p. 249-52 (1996)
    • Journal article
    A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2)
    Veldhuisen, B. Saris, J.J. de Haij, S. Hayashi, T. Reynolds, D.M. Mochizuki, T. Elles, R. Fossdal, R. Bogdanova, N. van Dijk, M.A. Coto, E. Ravine, D. Norby, S. Dumoulin, Christine[UCL] Breuning, M. H. Somlo, S. Peters, D.J.M. (1997) American Journal of Human Genetics — Vol. 61, no. 3, p. 547-555 (1997)