Skewed X-Chromosome Inactivation and Compensatory Upregulation of Escape Genes Precludes Major Clinical Symptoms in a Female With a Large Xq Deletion

por Santos-Rebouças, Cíntia B., Boy, Raquel, Vianna, Evelyn Q., Gonçalves, Andressa P., Piergiorge, Rafael M., Abdala, Bianca B., dos Santos, Jussara M., Calassara, Veluma, Machado, Filipe B., Medina-Acosta, Enrique, Pimentel, Márcia M. G.
Publicado 2020

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

por Borsatto, Taciane, Sperb-Ludwig, Fernanda, Lima, Samyra E., S. Carvalho, Maria R., S. Fonseca, Pablo A., S. Camelo, José, M. Ribeiro, Erlane, F. V. de Medeiros, Paula, M. Lourenço, Charles, F. M. de Souza, Carolina, Boy, Raquel, Félix, Têmis M., M. Bittar, Camila, L. C. Pinto, Louise, C. Neto, Eurico, J. Blom, Henk, D. Schwartz, Ida V.
Publicado 2017

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

por Borsatto, Taciane, Sperb-Ludwig, Fernanda, Lima, Samyra E., Carvalho, Maria R. S., Fonseca, Pablo A. S., Camelo, José S., Ribeiro, Erlane M., de Medeiros, Paula F. V., Lourenço, Charles M., de Souza, Carolina F. M., Boy, Raquel, Félix, Têmis M., Bittar, Camila M., Pinto, Louise L. C., Neto, Eurico C., Blom, Henk J., Schwartz, Ida V. D.
Publicado 2017

Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment

por Giugliani, Roberto, Federhen, Andressa, Rojas, Maria Verônica Muñoz, Vieira, Taiane, Artigalás, Osvaldo, Pinto, Louise Lapagesse, Azevedo, Ana Cecília, Acosta, Angelina, Bonfim, Carmen, Lourenço, Charles Marques, Kim, Chong Ae, Horovitz, Dafne, Bonfim, Denize, Norato, Denise, Marinho, Diane, Palhares, Durval, Santos, Emerson Santana, Ribeiro, Erlane, Valadares, Eugênia, Guarany, Fábio, de Lucca, Gisele Rosone, Pimentel, Helena, de Souza, Isabel Neves, Correa, Jordão, Fraga, José Carlos, Goes, José Eduardo, Cabral, José Maria, Simionato, José, Llerena, Juan, Jardim, Laura, Giuliani, Liane, da Silva, Luiz Carlos Santana, Santos, Mara L., Moreira, Maria Angela, Kerstenetzky, Marcelo, Ribeiro, Márcia, Ruas, Nicole, Barrios, Patricia, Aranda, Paulo, Honjo, Rachel, Boy, Raquel, Costa, Ronaldo, Souza, Carolina, Alcantara, Flavio F., Avilla, Silvio Gilberto A., Fagondes, Simone, Martins, Ana Maria
Publicado 2010

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

por Zhang, Chaofan, Jolly, Angad, Shayota, Brian J., Mazzeu, Juliana F., Du, Haowei, Dawood, Moez, Soper, Patricia Celestino, Ramalho de Lima, Ariadne, Ferreira, Bárbara Merfort, Coban-Akdemir, Zeynep, White, Janson, Shears, Deborah, Thomson, Fraser Robert, Douglas, Sarah Louise, Wainwright, Andrew, Bailey, Kathryn, Wordsworth, Paul, Oldridge, Mike, Lester, Tracy, Calder, Alistair D., Dumic, Katja, Banka, Siddharth, Donnai, Dian, Jhangiani, Shalini N., Potocki, Lorraine, Chung, Wendy K., Mora, Sara, Northrup, Hope, Ashfaq, Myla, Rosenfeld, Jill A., Mason, Kati, Pollack, Lynda C., McConkie-Rosell, Allyn, Kelly, Wei, McDonald, Marie, Hauser, Natalie S., Leahy, Peter, Powell, Cynthia M., Boy, Raquel, Honjo, Rachel Sayuri, Kok, Fernando, Martelli, Lucia R., Filho, Vicente Odone, Genomics England Research Consortium, Muzny, Donna M., Gibbs, Richard A., Posey, Jennifer E., Liu, Pengfei, Lupski, James R., Sutton, V. Reid, Carvalho, Claudia M.B.
Publicado 2021