Search Results - "SMAERS, Michèle"

A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin by DAHAN, Karin, DEVUYST, Olivier, BÜCHLER, Mathias, COCHAT, Pierre, COSYNS, Jean-Pierre, MOUGENOT, Béatrice, RIDER, Mark H, ANTIGNAC, Corinne, VERELLEN-DUMOULIN, Christine, PIRSON, Yves, SMAERS, Michèle, VERTOMMEN, Didier, LOUTE, Guy, POUX, Jean-Michel, VIRON, Béatrice, JACQUOT, Christian, GAGNADOUX, Marie-France, CHAUVEAU, Dominique

“…Familial juvenile hyperuricemic nephropathy (FJHN [MIM 162000]) is an autosomal-dominant disorder characterized by abnormal tubular handling of urate and late…”
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Familial juvenile hyperuricemic nephropathy and autosomal dominant medullary cystic kidney disease type 2 : Two facets of the same disease? by DAHAN, Karin, FUCHSHUBER, Arno, ADAMIS, Stavroula, SMAERS, Michèle, KROISS, Sabine, LOUTE, Guy, COSYNS, Jean-Pierre, HILDEBRANDT, Friedhelm, VERELLEN-DUMOULIN, Christine, PIRSON, Yves

“…Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder heralded by hyperuricemia during childhood; it is characterized by chronic…”
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Novel germline mutations in the APC gene and their phenotypic spectrum in familial adenomatous polyposis kindreds by WALON, C, KARTHEUSER, A, MICHILS, G, SMAERS, M, LANNOY, N, NGOUNOU, P, MERTENS, G, VERELLEN-DUMOULIN, C

“…Among 23 germline mutations identified in the APC screening of 45 familial adenomatous polyposis (FAP) patients, we have found 10 different novel frameshift…”
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