Large deletion in PIGL: a common mutational mechanism in CHIME syndrome?

Por Ceroni, José RM, Yamamoto, Guilherme L, Honjo, Rachel S, Kim, Chong A, Passos-Bueno, Maria R, Bertola, Débora R
Publicado no Genet Mol Biol (2018)

A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems

Por Araújo Luciano V, Malkowski Simon, Braghetto Kelly R, Passos-Bueno Maria R, Zatz Mayana, Pu Calton, Ferreira João E
Publicado em 2011-12-01

A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems

Por Araújo, Luciano V, Malkowski, Simon, Braghetto, Kelly R, Passos-Bueno, Maria R, Zatz, Mayana, Pu, Calton, Ferreira, João E
Publicado em 2011

Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome

Por Hatagami Marques, Júlia, Lopes Yamamoto, Guilherme, de Cássia Testai, Larissa, da Costa Pereira, Alexandre, Kim, Chong Ae, Passos-Bueno, Maria R., Romeo Bertola, Débora
Publicado no Mol Syndromol (2015)

Cnbp ameliorates Treacher Collins Syndrome craniofacial anomalies through a pathway that involves redox-responsive genes

Por de Peralta, Mauro S Porcel, Mouguelar, Valeria S, Sdrigotti, María Antonella, Ishiy, Felipe A A, Fanganiello, Roberto D, Passos-Bueno, Maria R, Coux, Gabriela, Calcaterra, Nora B
Publicado no Cell Death Dis (2016)

Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population

Por Paranaíba, Lívia M., de Aquino, Sibele N., Bufalino, Andreia, Martelli-Júnior, Hercílio, Graner, Edgard, Brito, Luciano A., Passos-Bueno, Maria R., Coletta, Ricardo-D., Swerts, Mário S.
Publicado em 2013

Craniofrontonasal Syndrome Caused by Introduction of a Novel uATG in the 5′UTR of EFNB1

Por Romanelli Tavares, Vanessa L., Kague, Erika, Musso, Camila M., Alegria, Thiago G.P., Freitas, Renato S., Bertola, Debora R., Twigg, Stephen R.F., Passos-Bueno, Maria R.
Publicado no Mol Syndromol (2019)

Human Fallopian Tube Mesenchymal Stromal Cells Enhance Bone Regeneration in a Xenotransplanted Model

Por Jazedje, Tatiana, Bueno, Daniela F., Almada, Bruno V. P., Caetano, Heloisa, Czeresnia, Carlos E., Perin, Paulo M., Halpern, Silvio, Maluf, Mariangela, Evangelista, Lucila P., Nisenbaum, Marcelo G., Martins, Marília T., Passos-Bueno, Maria R., Zatz, Mayana
Publicado em 2011

Evidence for DNA methylation mediating genetic liability to non-syndromic cleft lip/palate

Por Howe, Laurence J, Richardson, Tom G, Arathimos, Ryan, Alvizi, Lucas, Passos-Bueno, Maria R, Stanier, Philip, Nohr, Ellen, Ludwig, Kerstin U, Mangold, Elisabeth, Knapp, Michael, Stergiakouli, Evie, Pourcain, Beate St, Smith, George Davey, Sandy, Jonathan, Relton, Caroline L, Lewis, Sarah J, Hemani, Gibran, Sharp, Gemma C
Publicado no Epigenomics (2019)