MSX2 copy number increase and craniosynostosis: copy number variation detected by array comparative genomic hybridization

por de Oliveira Pelegrino, Karla, Sugayama, Sofia, Lezirovitz, Karina, Catelani, Ana Lúcia, Kok, Fernando, de Lourdes Chauffaille, Maria
Publicado 2012

7q36 deletion and 9p22 duplication: effects of a double imbalance

por Pelegrino, Karla de Oliveira, Sugayama, Sofia, Catelani, Ana Lúcia, Lezirovitz, Karina, Kok, Fernando, Chauffaille, Maria de Lourdes
Publicado 2013

Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis

por Torres, Leuridan Cavalcante, de Lourdes Lopes Chauffaille, Maria, Delboni, Thomaz Pileggi, Okay, Thelma Suely, Carneiro-Sampaio, Magda, Sugayama, Sofia
Publicado 2010

Natural history of 39 patients with Achondroplasia

por Ceroni, Jose Ricardo Magliocco, Soares, Diogo Cordeiro de Queiroz, Testai, Larissa de Cássia, Kawahira, Rachel Sayuri Honjo, Yamamoto, Guilherme Lopes, Sugayama, Sofia Mizuho Miura, de Oliveira, Luiz Antonio Nunes, Bertola, Debora Romeo, Kim, Chong Ae
Publicado 2018

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA...

por Aguiar, Talita, Teixeira, Anne, Scliar, Marília O., Sobral de Barros, Juliana, Lemes, Renan B., Souza, Silvia, Tolezano, Giovanna, Santos, Fernanda, Tojal, Israel, Cypriano, Monica, Caminada de Toledo, Silvia Regina, Valadares, Eugênia, Borges Pinto, Raquel, Pinto Artigalas, Osvaldo Afonso, Caetano de Aguirre Neto, Joaquim, Novak, Estela, Cristofani, Lilian Maria, Miura Sugayama, Sofia M., Odone, Vicente, Cunha, Isabela Werneck, Lima da Costa, Cecilia Maria, Rosenberg, Carla, Krepischi, Ana
Publicado 2022