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Displaying 10 results.
    • Journal article
    Polymicrogyria in chromosome 22q11 deletion syndrome.
    Ghariani, Sophie[UCL] Dahan, Karin[UCL] Saint-Martin, Christine[UCL] Kadhim, Hazim[UCL] Morsomme, Françoise[UCL] Moniotte, Stéphane[UCL] Dumoulin, Christine[UCL] Sébire, Guillaume[UCL] (2002) European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society — Vol. 6, no. 1, p. 73-77 (2002)
    • Journal article
    Autosomal-dominant chronic interstitial nephritis with early hyperuricemia.
    Pirson, Yves[UCL] Loute, G. Cosyns, Jean-Pierre[UCL] Dahan, Karin[UCL] Dumoulin, Christine[UCL] (2000) Advances in nephrology from the Necker Hospital — Vol. 30, p. 357-369 (2000)
    • Speech
    Difficult genetic counseling in a family with pathogenic BRCA2 mutation.
    Ingargiola, II Dahan, Karin[UCL] Smaers, M Van Cangh, Paul[UCL] Dumoulin, Christine[UCL] (2001) —
    • Journal article
    Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2: two facets of the same disease?
    Dahan, Karin[UCL] Fuchshuber, A Adamis, S.[UCL] Smaers, M[UCL] Kroiss, S Loute, G. Cosyns, Jean-Pierre[UCL] Hildebrandt, F Dumoulin, Christine[UCL] Pirson, Yves[UCL] (2001) Journal of the American Society of Nephrology : JASN — Vol. 12, no. 11, p. 2348-57 (2001)
    • Journal article
    Description morphologique et approche génétique d'un nouveau reduviidae (Harpactorinae) : Zelus Josephpaulusi, N.SP.
    Jadin, Jean-Marie Dahan, Karin Jadin-Nyssens, Madeleine Houbion, Yves Le Corre, Frédéric Dumoulin, Christine[UCL] (2002) Lambillionea — Vol. 102, no.3, p. 303-328 (2002)
    • Speech
    Mutations in the UMOD gene lead to abnormal expression of uromodulin in familial juvenile hyperuricemic nephropathy.
    Devuyst, Olivier[UCL] Dahan, Karin[UCL] Pirson, Yves[UCL] Cosyns, Jean-Pierre[UCL] Dumoulin, Christine[UCL] (2003) 36th Annual Meeting of the American-Society-of-Nephrology — SAN DIEGO (California)
    • Speech
    Homozygous myotonic dystrophy clinical evaluation, molecular analyses and genetic counseling.
    Lannoy, N. Hubinont, Corinne[UCL] Dahan, Karin[UCL] Abinet, I. Freund, M. Van den Berghe, P Dumoulin, Christine[UCL] (2003) Annual Meeting of the American-Society-of-Human-Genetics — LOS ANGELES (California)
    • Journal article
    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)
    • Speech
    MLH1 and MSH2 mutation identification from unselected patients with colorectal cancer is facilitated by the combined analysis of microsatellite instability and immunohistochemistry.
    Dumoulin, Christine[UCL] Kartheuser, Alex[UCL] Detry, Roger[UCL] Sempoux, Christine[UCL] Dahan, Karin[UCL] Thim, VV Smaers, M Camby, P. (2000) —
    • Journal article
    A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.
    Dahan, Karin[UCL] Devuyst, Olivier[UCL] Smaers, Michèle[UCL] Vertommen, Didier[UCL] Loute, Guy Poux, Jean-Michel Viron, Béatrice Jacquot, Christian Gagnadoux, Marie-France Chauveau, Dominique Büchler, Mathias Cochat, Pierre Cosyns, Jean-Pierre[UCL] Mougenot, Béatrice Rider, Mark H.[UCL] Antignac, Corinne Dumoulin, Christine[UCL] Pirson, Yves[UCL] (2003) Journal of the American Society of Nephrology — Vol. 14, no. 11, p. 2883-2893 (2003)