Works matching DE "ADOLESCENT nephronophthisis"

Results: 4
    1

    Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

    Published in:
    Nature Genetics, 2003, v. 34, n. 4, p. 455, doi. 10.1038/ng1216
    By:
    • Olbrich, Heike;
    • Fliegauf, Manfred;
    • Hoefele, Julia;
    • Kispert, Andreas;
    • Otto, Edgar;
    • Volz, Andreas;
    • Wolf, Matthias T.;
    • Sasmaz, Gürsel;
    • Trauer, Ute;
    • Reinhardt, Richard;
    • Sudbrak, Ralf;
    • Antignac, Corinne;
    • Gretz, Norbert;
    • Walz, Gerd;
    • Schermer, Bernhard;
    • Benzing, Thomas;
    • Hildebrandt, Friedhelm;
    • Omran, Heymut
    Publication type:
    Article
    2
    3

    Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

    Published in:
    Kidney International, 2009, v. 75, n. 8, p. 839, doi. 10.1038/ki.2008.662
    By:
    • Tory, Kálmán;
    • Rousset-Rouvière, Caroline;
    • Gubler, Marie-Claire;
    • Morinière, Vincent;
    • Pawtowski, Audrey;
    • Becker, Céline;
    • Guyot, Claude;
    • Gié, Sophie;
    • Frishberg, Yaacov;
    • Nivet, Hubert;
    • Deschênes, Georges;
    • Cochat, Pierre;
    • Gagnadoux, Marie-France;
    • Saunier, Sophie;
    • Antignac, Corinne;
    • Salomon, Rémi
    Publication type:
    Article
    4

    Literature Abstracts.

    Published in:
    2001
    By:
    • Olbing, H.;
    • Hirche, H.;
    • Koskimies, O.;
    • Lax, H.;
    • Seppanen, U.;
    • Smellie, J.M.;
    • Tamminen-Mobius, T.;
    • Wikstad, I.;
    • Omran, H.;
    • Haffner, K.;
    • Burth, S.;
    • Fernandez, C.;
    • Fargier, B.;
    • Villaquiran, A.;
    • Nothwang, H.G.;
    • Schnittger, S.;
    • Lebrach, H.;
    • Woo, D.;
    • Brandis, M.
    Publication type:
    Abstract