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Displaying 25 results.
    • 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
    • Journal article
    A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway
    Bellavia, Salvatore[UCL] Dahan, Karin[UCL] Terryn, Sara[UCL] Cosyns, Jean-Pierre[UCL] Devuyst, Olivier[UCL] Pirson, Yves[UCL] (2010) Nephrology, Dialysis, Transplantation — Vol. 25, no. 12, p. 4097-4102 (2010)
    • Journal article
    Tamm-Horsfall protein or uromodulin: new ideas about an old molecule.
    Devuyst, Olivier[UCL] Dahan, Karin[UCL] Pirson, Yves[UCL] (2005) Nephrology, Dialysis, Transplantation — Vol. 20, no. 7, p. 1290-1294 (2005)
    • Journal article
    Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
    McVean, Gilean Taylor, Jenny C. Martin, Hilary C. Lise, Stefano Broxholme, John Cazier, Jean-Baptiste Rimmer, Andy Kanapin, Alexander Lunter, Gerton Fiddy, Simon Allan, Chris Aricescu, A. Radu Attar, Moustafa Babbs, Christian Becq, Jennifer Beeson, David Bento, Celeste Bignell, Patricia Blair, Edward Buckle, Veronica J. Bull, Katherine Cais, Ondrej Cario, Holger Chapel, Helen Copley, Richard R. Cornall, Richard Craft, Jude Dahan, Karin[UCL] Davenport, Emma E. Dendrou, Calliope Devuyst, Olivier[UCL] Fenwick, Aimée L. Flint, Jonathan Fugger, Lars Gilbert, Rodney D. Goriely, Anne Green, Angie Greger, Ingo H. Grocock, Russell Gruszczyk, Anja V. Hastings, Robert Hatton, Edouard Higgs, Doug Hill, Adrian Holmes, Chris Howard, Malcolm Hughes, Linda Humburg, Peter Johnson, David Karpe, Fredrik Kingsbury, Zoya Kini, Usha Knight, Julian C. Krohn, Jonathan Lamble, Sarah Langman, Craig Lonie, Lorne Luck, Joshua McCarthy, Davis McGowan, Simon J. McMullin, Mary Frances Miller, Kerry A. Murray, Lisa Németh, Andrea H. Nesbit, M. Andrew Nutt, David Ormondroyd, Elizabeth Bang Oturai, Annette Pagnamenta, Alistair Patel, Smita Y. Percy, Melanie Petousi, Nayia Piazza, Paolo Piret, Sian E. Polanco-Echeverry, Guadalupe Popitsch, Niko Powrie, Fiona Pugh, Chris Quek, Lynn Robbins, Peter A. Robson, Kathryn Russo, Alexandra Sahgal, Natasha Van Schouwenburg, Pauline A. Schuh, Anna Silverman, Earl Simmons, Alison Sorensen, Per Soelberg Sweeney, Elizabeth Taylor, John Thakker, Rajesh V. Tomlinson, Ian Trebes, Amy Twigg, Stephen R. F. Uhlig, Holm H. Vyas, Paresh Vyse, Tim Wall, Steven A. Watkins, Hugh Whyte, Michael P. Witty, Lorna Wright, Ben (2015) Nature Genetics — Vol. 47, no. 7, p. 717-726 (2015)
    • Journal article
    A novel splicing mutation in SLC12A3 associated with Gitelman syndrome and idiopathic intracranial hypertension.
    Godefroid, Nathalie Riveira-Munoz, Eva[UCL] Saint-Martin, Christine Nassogne, Marie-Cécile[UCL] Dahan, Karin[UCL] Devuyst, Olivier[UCL] (2006) American journal of kidney diseases : the official journal of the National Kidney Foundation — Vol. 48, no. 5, p. e73-9 (2006)
    • Journal article
    Mild chronic renal failure with a family history of kidney disease
    Hubert, Florence[UCL] Dahan, Karin[UCL] Cosyns, Jean-Pierre[UCL] Devuyst, Olivier[UCL] Pirson, Yves[UCL] (2009) NDT Plus — Vol. 2, no. 5, p. 415-417 (2009)
    • 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)
    • Journal article
    HNF1ß: A gene, several phenotypes
    Ho, Thien Anh[UCL] Godefroid, Nathalie[UCL] Devuyst, Olivier[UCL] Pirson, Yves[UCL] Demaret, Tanguy[UCL] Dahan, Karin[UCL] (2014) Louvain médical — Vol. 133, no. 4, p. 197-200 (2014)
    • Journal article
    Paradoxical response to furosemide in uromodulin-associated kidney disease
    Labriola, Laura[UCL] Olinger, Eric Belge, Hendrica[UCL] Pirson, Yves[UCL] Dahan, Karin[UCL] Devuyst, Olivier[UCL] (2015) Nephrology, Dialysis, Transplantation — Vol. 30, no. 2, p. 330-335 (2015)