Zobrazeno 1 - 3
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pro vyhledávání: '"Mayana Zatz"'
Autor:
Eloisa de Sá Moreira, C. S. Costa, Mariz Vainzof, Maria Rita Passos-Bueno, Suely Kazue Nagahashi Marie, Mayana Zatz, Beggs Ah, Umbertina Conti Reed
Publikováno v:
Neuropediatrics. 28:223-228
The alpha-actinins belong to a superfamily of cytoskeletal proteins, and their role in human genetic diseases is still unclear. Therefore, they could be good candidates for muscular dystrophies of unknown etiology. We have analyzed alpha-actinin-3 (A
Autor:
Raquel Ribeiro Gomes, José Salomão Schwartzman, Mayana Zatz, Agnes L. Nishimura, Andrea L.F. Bernardino
Publikováno v:
Neuropediatrics. 32:162-164
Rett syndrome (RTT) is an X-linked condition which affects almost exclusively females. Here we report the first case of RTT syndrome in a boy with an XXY chromosomal constitution. Mutation analysis of the MECP2 gene in the affected patient revealed a
Publikováno v:
Neuropediatrics. 37