Found: 2

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  • Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

    Published in:
    Human Genetics, 2002, v. 111, n. 4/5, p. 421, doi. 10.1007/s00439-002-0803-6
    By:
    • Ion, Andra;
    • Tartaglia, Marco;
    • Song, Xiaoling;
    • Kalidas, Kamini;
    • van der Burgt, Ineke;
    • Shaw, Adam C.;
    • Ming, Jeffrey E.;
    • Zampino, Giuseppe;
    • Zackai, Elaine H.;
    • Dean, John C.;
    • Somer, Mirja;
    • Parenti, Giancarlo;
    • Crosby, Andrew H.;
    • Patton, Michael A.;
    • Gelb, Bruce D.;
    • Jeffery, Steve
    Publication type:
    Article

  • Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

    Published in:
    Nature Genetics, 2001, v. 29, n. 4, p. 465, doi. 10.1038/ng772
    By:
    • Tartaglia, Marco;
    • Mehler, Ernest L.;
    • Goldberg, Rosalie;
    • Zampino, Giuseppe;
    • Brunner, Han G.;
    • Kremer, Hannie;
    • van der Burgt, Ineke;
    • Crosby, Andrew H.;
    • Ion, Andra;
    • Jeffery, Steve;
    • Kalidas, Kamini;
    • Patton, Michael A.;
    • Kucherlapati, Raju S.;
    • Gelb, Bruce D.
    Publication type:
    Article