Neuromuscular disorders: genes, genetic counseling and therapeutic trials

Por Mayana Zatz, Maria Rita Passos-Bueno, Mariz Vainzof

Mutations in Collagen 18A1 (COL18A1) and their relevance to the human phenotype

Por Katia R. M. Leite, Lucia M. Armelin-Correa, Flavia I. V. Errera, Kelly Bagatini, Fernando Kok, Maria Rita Passos-Bueno, Oscar T. Suzuki, André L. Sertié
Publicado no Anais da Academia Brasileira de Ciências (2006)

Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans.

Por Joseph R Bishop, Maria Rita Passos-Bueno, Loren Fong, Kristin I Stanford, Jon C Gonzales, Erika Yeh, Stephen G Young, Andre Bensadoun, Joseph L Witztum, Jeffrey D Esko, Karen S Moulton
Publicado em 2010-11-01

COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C>T in its "frizzled" motif is associated with obesity in diabetes type 2 patients

Por Maria Rita Passos-Bueno, Oscar T. Suzuki, Andréa L. Sertié, Flavia I. V. Errera, Erika Yeh, Érika Kague, Lucia M. Armelin-Corrêa, Luís H. Canani, Balduíno Tschiedel, Maria Elizabeth R. Silva
Publicado no Anais da Academia Brasileira de Ciências (2008)

A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case

Por Claudia Ismania Samogy-Costa, Elisa Varella-Branco, Frederico Monfardini, Helen Ferraz, Rodrigo Ambrósio Fock, Ricardo Henrique Almeida Barbosa, André Luiz Santos Pessoa, Ana Beatriz Alvarez Perez, Naila Lourenço, Maria Vibranovski, Ana Krepischi, Carla Rosenberg, Maria Rita Passos-Bueno
Publicado em 2019-07-01

Development of a comprehensive noninvasive prenatal test

Por Carolina Malcher, Guilherme L. Yamamoto, Philip Burnham, Suzana A.M. Ezquina, Naila C.V. Lourenço, Sahilla Balkassmi, David S. Marco Antonio, Gabriella S.P. Hsia, Thomaz Gollop, Rita C. Pavanello, Marco Antonio Lopes, Egbert Bakker, Mayana Zatz, Débora Bertola, Iwijn De Vlaminck, Maria Rita Passos-Bueno
Publicado em 2018-07-01