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Affichage: 1 - 25 sur 96 résultats.

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    • Article de périodique
    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)
    • Article de périodique
    De Novo Atypical Haemolytic Uremic Syndrome after Kidney Transplantation.
    Devresse, Arnaud[UCL] de Meyer, Martine[UCL] Aydin, Selda[UCL] Dahan, Karin[UCL] Kanaan, Nada[UCL] (2018) Case Reports in Nephrology — Vol. 2018, p. 1727986 (2018)
    • Communication
    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
    • Article de périodique
    Late-onset renal failure in Senior-Loken syndrome.
    Georges, B. Cosyns, Jean-Pierre[UCL] Dahan, Karin[UCL] Snyers, Bernadette[UCL] Carlier, B. Loute, G. Pirson, Yves[UCL] (2000) American journal of kidney diseases : the official journal of the National Kidney Foundation — Vol. 36, no. 6, p. 1271-5 (2000)
    • Article de périodique
    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)
    • Article de périodique
    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)
    • Article de périodique
    Gitelman syndrome and glomerular proteinuria: a link between loss of sodium-chloride cotransporter and podocyte dysfunction?
    Demoulin, Nathalie[UCL] Aydin, Selda[UCL] Cosyns, Jean-Pierre[UCL] Dahan, Karin[UCL] Cornet, Georges Auberger, Ines Loffing, Johannes Devuyst, Olivier[UCL] (2014) Nephrology, Dialysis, Transplantation — Vol. 29, no.suppl 4, p. iv117-iv120 (2014)
    • Article de périodique
    A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
    Strautnieks, S S Bull, L N Knisely, A S Kocoshis, S A Dahl, N Arnell, H Sokal, Etienne[UCL] Dahan, Karin[UCL] Childs, S Ling, V Tanner, M S Kagalwalla, A F Németh, A Pawlowska, J Baker, A. Mieli-Vergani, G Freimer, N B Gardiner, R M Thompson, R J (1998) Nature genetics — Vol. 20, no. 3, p. 233-8 (1998)
    • Article de périodique
    Hypermethylation of the 5' CpG island of the p14ARF flanking exon 1β in human colorectal cancer displaying a restricted pattern of p53 overexpression concomitant with increased MDM2 expression.
    Nyiraneza, Christine[UCL] Sempoux, Christine[UCL] Detry, Roger[UCL] Kartheuser, Alex[UCL] Dahan, Karin[UCL] (2012) Clinical Epigenetics — Vol. 4, no.1, p. 9 (2012)
    • Article de périodique
    Multiple neoplasia in a 15-year-old girl with familial adenomatous polyposis.
    Brasseur, Benoit[UCL] Dahan, Karin[UCL] Beauloye, Véronique[UCL] Blétard, Noella[UCL] Chantrain, Christophe[UCL] Dupont, Sophie[UCL] Guarin, Jean-Luc[UCL] Vermylen, Christiane[UCL] Brichard, Bénédicte[UCL] (2009) Journal of Pediatric Hematology / Oncology — Vol. 31, no. 7, p. 530-532 (2009)
    • Communication
    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)
    • Article de périodique
    Du syndrome d'Alport à l'hématurie familiale bénigne: aspects cliniques et génétiques.
    Maziers, Nicolas[UCL] Dahan, Karin[UCL] Pirson, Yves[UCL] (2005) Néphrologie & thérapeutique — Vol. 1, no. 2, p. 90-100 (2005)
    • Article de périodique
    Transcriptional and functional analyses of SLC12A3 mutations: new clues for the pathogenesis of Gitelman syndrome.
    Riveira-Munoz, Eva[UCL] Chang, Qing Godefroid, Nathalie[UCL] Hoenderop, Joost G. Bindels, René J Dahan, Karin[UCL] Devuyst, Olivier[UCL] (2007) Journal of the American Society of Nephrology : JASN — Vol. 18, no. 4, p. 1271-83 (2007)
    • Communication
    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)
    • Article de périodique
    Non-Mediterranean periodic fever
    Deckers, Sabine[UCL] Dahan, Karin[UCL] Delgrange, Etienne[UCL] Hoebeke, Michel[UCL] Donckier, Julian[UCL] (1999) The Lancet — Vol. 353, no. 9150, p. 382-382 (1999)
    • Communication
    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) —
    • Article de périodique
    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)
    • Article de périodique
    mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy
    Schlingmann, Karl P. Jouret, François Shen, Kuang Nigam, Anukrati Arjona, Francisco J. Dafinger, Claudia Houillier, Pascal Jones, Deborah P. Kleinerüschkamp, Felix Oh, Jun Godefroid, Nathalie[UCL] Eltan, Mehmet Güran, Tülay Burtey, Stéphane Parotte, Marie-Christine König, Jens Braun, Alina Bos, Caro Ibars Serra, Maria Rehmann, Holger Zwartkruis, Fried J.T. Renkema, Kirsten Y. Klingel, Karin Schulze-Bahr, Eric Schermer, Bernhard Bergmann, Carsten Altmüller, Janine Thiele, Holger Beck, Bodo B. Dahan, Karin[UCL] Sabatini, David Liebau, Max C. Vargas-Poussou, Rosa Knoers, Nine V.A.M. Konrad, Martin de Baaij, Jeroen H.F. (2021) Journal of the American Society of Nephrology — Vol. 32, no. 11, p. 2885-2899 (2021)
    • Article de périodique
    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)
    • Article de périodique
    Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations
    Bollée, Guillaume Dahan, Karin[UCL] Flamant, Martin Morinière, Vincent Pawtowski, Audrey Heidet, Laurence Lacombe, Didier Devuyst, Olivier[UCL] Pirson, Yves[UCL] Antignac, Corinne Knebelmann, Bertrand (2011) Clinical Journal of the American Society of Nephrology — Vol. 6, no. 10, p. 2429-38 (2011)
    • Article de périodique
    Outcome of kidney transplantation in type I oral-facial-digital syndrome
    Halleux, Delphine[UCL] Dahan, Karin[UCL] Thauvin-Robinet, Christel Aral, Bernard Pouteil-Noble, Claire Devuyst, Olivier[UCL] Pirson, Yves[UCL] (2011) Transplant International — Vol. 24, no. 6, p. e48-50 (2011)
    • Article de périodique
    Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia
    de Baaij, Jeroen Dorresteijn, Eiske Hennekam, Eric Kamsteeg, Erik-Jan Meijer, Rowdy Dahan, Karin[UCL] Muller, Michelle van den Dorpel, Marinus Bindels, René Hoenderop, Joost Devuyst, Olivier[UCL] Knoers, Nine (2015) Nephrology, Dialysis, Transplantation — Vol. 30, no. 6, p. 952-957 (2015)
    • Article de périodique
    Existe-t-il un lien entre hémochromatose secondaire et génétique? A propos de deux cas.
    Paris, Isabelle[UCL] Dahan, Karin[UCL] van Ypersele, M[UCL] Rahier, Jacques[UCL] Michaux, Lucienne[UCL] Buysschaert, Martin[UCL] (1999) Acta clinica Belgica — Vol. 54, no. 1, p. 26-9 (1999)
    • Article de périodique
    A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis
    Raynaud, Peggy[UCL] Tate, Joshua Callens, Céline Cordi, Sabine[UCL] Van Der Smissen, Patrick[UCL] Carpentier, Rodolphe[UCL] Sempoux, Christine[UCL] Devuyst, Olivier[UCL] Pierreux, Christophe[UCL] Courtoy, Pierre J.[UCL] Dahan, Karin[UCL] Delbecque, Katty Lepreux, Sébastien Pontoglio, Marco Guay-Woodford, Lisa M Lemaigre, Frédéric[UCL] (2011) Hepatology — Vol. 53, no. 6, p. 1959-1966 (2011)
    • Communication
    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

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