Browsing by Author "38850e76-f9c7-4982-8627-3020cf90264c"

Now showing items 1-2 of 2

    • Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy 
      Castiglioni, Claudia; Cassandrini, Denis; Fattori, Fabiana; Bellacchio, Emanuele; D'Amico, Adele; Alvarez, Karin; Gejman, Roger; Gonzalo Díaz, Jorge; Santorelli, Filippo M.; Romero, Norma B.; Bertini, Enrico; Bevilacqua, Jorge (John Wiley and Sons Inc., 2014)
      © 2014 Wiley Periodicals, Inc.Introduction: Muscle biopsy is usually diagnostic in nemaline myopathy (NM), but some patients may show nonspecific findings, leading to pitfalls in diagnosis. Muscle MRI is a helpful complementary ...
    • Spectrum of MLH1 and MSH2 mutations in Chilean Families with suspected Lynch syndrome 
      Alvarez, Karin; Hurtado, Claudia; Hevia, Montserrat A.; Wielandt, Ana Maria; De La Fuente, Marjorie; Church, James; Carvallo, Pilar; López Kostner, Francisco (2010)
      PURPOSE: Lynch syndrome is the most common inherited syndrome of colorectal cancer, caused principally by germline mutations in MLH1 and MSH2. We report our experience with genetic screening in the diagnosis of Lynch ...