User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Search

Displaying 17 results.
    • Dissertation
    Familial juvenile hyperuricemic nephropathy (FJHN) : clinical phenotype, gene cloning and UMOD gene mutation identification
    Dahan, Karin[UCL] (2004)
    • 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) —
    • Speech
    PHENOTYPIC VARIABILITY IN A FAMILY WITH X-LINKED RETINITIS PIGMENTOSA: WHEN THE EYES GO WRONG, LOOK AT THE CILIA!
    Balligand, Thomas[UCL] Dahan, Karin[UCL] Lengele, Jean-Philippe[UCL] (2013) Congress of the Belgian Society of Internal Medicine — Jette
    • 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)
    • Speech
    Syndrome de Gitelman et protéinurie glomérulaire: à propos d'une association atypique
    Demoulin, Nathalie[UCL] Cosyns, Jean-Pierre[UCL] Cornet, C. Godefroid, Nathalie[UCL] Pirson, Yves[UCL] Jadoul, Michel[UCL] Dahan, Karin[UCL] Devuyst, Olivier[UCL] (2010) 12e Réunion commune de la Société de Néphrologie (SN) et de la Société Francophone de Dialyse (SFD) — (Belgium) Brussels
    • Speech
    MicroRNA EXPRESSION PROFILING AND ITS IMPLICATIONS FOR THE DIAGNOSIS AND CLASSIFICATION AND THE PREDICTION OF PATIENT OUTCOME IN COLORECTAL CANCER
    Nyiraneza, Christine[UCL] Detry, Roger[UCL] Kartheuser, Alex[UCL] Sempoux, Christine[UCL] Dahan, Karin[UCL] (2009) 3rd Marie Curie-Genome Architecture in Relation to Disease Meeting (MC-GARD) — Edinburgh (Scotland)
    • Speech
    Familial Hematuria and Consanguinity: No Care for Female Patients?
    Spinogatti, N. Dahan, Karin[UCL] Hall, M. Bagon, J. Depierreux, M. Vilain, C. Nortier, J. (2009) —
    • Speech
    Proposition for a multi-step mutation detection in haemophilia A
    Lannoy, Nathalie[UCL] Abinet, Isabelle[UCL] Verellen-Dumoulin, Christine[UCL] Vermylen, Christiane[UCL] Hermans, Cédric[UCL] Dahan, Karin[UCL] (2007) XXI Congress of the International Society on Thrombosis and Haemostasis — (Switzerland) Geneva
    • Speech
    Detection of large rearrangements by MLPA in severe hemophilia A patients
    Lannoy, Nathalie[UCL] Abinet, Isabelle[UCL] Lambert, Catherine[UCL] Vermylen, Christiane[UCL] Dahan, Karin[UCL] Hermans, Cédric[UCL] (2009) XXII Congress of the International Society of Thrombosis and Haemostasis — (United States) Boston, MA
    • Speech
    FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy
    Claus, Laura Stallworth, Jennifer van Jaarsveld, Richard Turner, Joshu Hawks, Alexandra May, Melanie Flanagan-Steet, Heather Louie, Raymond Silver, Josh Lerner-Ellise, Jordan Morel, Chantal Mighton, Chloe Ziegler, Alban Barakat, Stefan Dahan, Karin[UCL] Demoulin, Nathalie[UCL] Goffin, Eric[UCL] Larsen, Martin Michael Hertz, Jens Lilien, Marc Olinger, Eric Sayer, John Obeidová, Lena Seeman, Tomas Senum, Sarah Hanna, Christian Rogers, Curtis Duran, Karen Peters, Edith Harris, Peter Mason, Jennifer van Haaften, Gijs M. Van Eerde, Albertien Steet, Richard (2022) 59th ERA Congress — Paris, France - live et virtuel
    • 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) —
    • Speech
    The many faces of atypical Hemolytic Uremic Syndrome (aHUS) in Belgium
    Massart, Annick Claes, Kathleen Weekers, Laurent Broeders, Nilufer Goffin, Eric[UCL] Adams, Brigitte Bosmans, Jean-Louis Collard, Laure Levtchencko, Elena Pipeleers, Lissa Van Hoeck, Koen Abramowicz, Daniel Nortier, Joëlle Nikolaou, Vasilis Hilbert, Pascale Dahan, Karin Stordeur, Patrick Godefroid, Nathalie[UCL] Vande Walle, Johann (2018) 23rd Annual Congress of the Belgian Society of Internal Medicine — La Hulpe, Belgium
    • Speech
    A new class of mutations involved in Gitelman's syndrome affects the intrinsic activity of the Na-Cl cotransporter NCCT
    Riveira-Munoz, Eva[UCL] Dahan, Karin[UCL] Godefroid, Nathalie[UCL] Devuyst, Olivier[UCL] Chang, Qing Hoenderop, Joost G. Bindels, Rene (2006) 43rd ERA-EDTA Congress — Glasgow (Scotland)
    • Speech
    Impact of the polymorphic variant 5 FR/G-260C in the Multidrug Resistance-associate Protein-1 gene on severity of cystic fibrosis
    Mafficini, A. Ortombina, M. Sermet-Gaudelus, I. Lebecque, Patrick[UCL] Leal, Teresinha[UCL] Leonard, Anissa Reychler, Gregory[UCL] Dahan, Karin[UCL] Pepermans, Xavier Lenoir, G. Sorio, C. Iansa, P. Assael, B.M. Melotti, P. (2009) 32nd European Cystic Fibrosis Conference — (France) Brest
    • Speech
    Restricted overexpression of p53 immunohistochemistry (p53IHC RO) as prognostic after colorectal cancer (CRC) resection
    Van den Eynde, Marc[UCL] Le, Ha Molinh Nyiraneza, Christine Kartheuser, Alex[UCL] Detry, Roger[UCL] Humblet, Yves[UCL] Léonard, Daniel[UCL] Remue, Christophe[UCL] Dahan, Karin[UCL] van Maanen, Aline[UCL] Mourin, Anne[UCL] Sempoux, Christine[UCL] (2014) 2014 ASCO Annual Meeting — (United States) Chicago, IL
    • Speech
    Restricted overexpression of p53 is prognostic after colorectal cancer (CRC) resection
    Le, Ha Molinh Nyiraneza, Christine Mourin, Anne[UCL] Kartheuser, Alex[UCL] Detry, Roger[UCL] Dahan, Karin[UCL] van Maanen, Aline[UCL] Sempoux, Christine[UCL] Van den Eynde, Marc[UCL] (2014) Belgian Week of Gastroenterology - XXVIth Edition — (Belgium) La Hulpe