Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects

Por Romeo Bertola, Débora, Honjo, Rachel S., Baratela, Wagner A.R.
Publicado no Mol Syndromol (2016)

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)

Nephrogenic Diabetes Insipidus (NDI): Clinical, Laboratory and Genetic Characterization of Five Brazilian Patients

Por Vaisbich, Maria Helena, Carneiro, Juliana, Bóson, Wolfanga, Resende, Bruna, De Marco, Luiz, Honjo, Rachel S, Kim, Chong Ae, Koch, Vera H
Publicado em 2009

Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers

Por Dutra, Roberta Lelis, de Campos Pieri, Patrícia, Teixeira, Ana Carolina Dias, Honjo, Rachel Sayuri, Bertola, Debora Romeo, Kim, Chong Ae
Publicado em 2011

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

Por Dutra Roberta L, Honjo Rachel S, Kulikowski Leslie D, Fonseca Fernanda M, Pieri Patrícia C, Jehee Fernanda S, Bertola Debora R, Kim Chong A
Publicado em 2012-01-01

Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries

Por Dutra, Roberta L, Honjo, Rachel S, Kulikowski, Leslie D, Fonseca, Fernanda M, Pieri, Patrícia C, Jehee, Fernanda S, Bertola, Debora R, Kim, Chong A
Publicado em 2012

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA

Por Honjo, Rachel Sayuri, Dutra, Roberta Lelis, Furusawa, Erika Arai, Zanardo, Evelin Aline, Costa, Larissa Sampaio de Athayde, Kulikowski, Leslie Domenici, Bertola, Debora Romeo, Kim, Chong Ae
Publicado no Biomed Res Int (2015)

Corrigendum to “Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA”

Por Honjo, Rachel Sayuri, Dutra, Roberta Lelis, Furusawa, Erika Arai, Zanardo, Evelin Aline, Costa, Larissa Sampaio de Athayde, Kulikowski, Leslie Domenici, Bertola, Debora Romeo, Kim, Chong Ae
Publicado no Biomed Res Int (2015)

Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

Por Costa, Larissa Sampaio de Athayde, Zandona-Teixeira, Aline C., Montenegro, Marilia M., Dias, Alexandre T., Dutra, Roberta L., Honjo, Rachel S., Bertola, Debora R., Kulikowski, Leslie D., Kim, Chong A.
Publicado no Mol Cytogenet (2015)

Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

Por Pereira, Fernanda dos Santos, Matte, Ursula, Habekost, Clarissa Troller, de Castilhos, Raphael Machado, El Husny, Antonette Souto, Lourenço, Charles Marques, Vianna-Morgante, Angela M., Giuliani, Liane, Galera, Marcial Francis, Honjo, Rachel, Kim, Chong Ae, Politei, Juan, Vargas, Carmen Regla, Jardim, Laura Bannach
Publicado em 2012

Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation

Por Guo, Long, Bertola, Débora Romeo, Takanohashi, Asako, Saito, Asuka, Segawa, Yuko, Yokota, Takanori, Ishibashi, Satoru, Nishida, Yoichiro, Yamamoto, Guilherme Lopes, Franco, José Francisco da Silva, Honjo, Rachel Sayuri, Kim, Chong Ae, Musso, Camila Manso, Timmons, Margaret, Pizzino, Amy, Taft, Ryan J., Lajoie, Bryan, Knight, Melanie A., Fischbeck, Kenneth H., Singleton, Andrew B., Ferreira, Carlos R., Wang, Zheng, Yan, Li, Garbern, James Y., Simsek-Kiper, Pelin O., Ohashi, Hirofumi, Robey, Pamela G., Boyde, Alan, Matsumoto, Naomichi, Miyake, Noriko, Spranger, Jürgen, Schiffmann, Raphael, Vanderver, Adeline, Nishimura, Gen, Passos-Bueno, Maria Rita dos Santos, Simons, Cas, Ishikawa, Kinya, Ikegawa, Shiro
Publicado no Am J Hum Genet (2019)

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 em 2010