An uncommon t(9;11)(p24;q22) with monoallelic loss of ATM and KMT2A genes in a child with myelodysplastic syndrome/acute myeloid leukemia who evolved from Fanconi anemia

por Lovatel, Viviane Lamim, de Souza, Daiane Corrêa, Alvarenga, Tatiana Fonseca, Capela de Matos, Roberto R., Diniz, Claudia, Schramm, Marcia Trindade, Llerena Júnior, Juan Clinton, Silva, Maria Luiza Macedo, Abdelhay, Eliana, de Souza Fernandez, Teresa
Publicado 2018

A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes

por Ferreira, Igor Ribeiro, Costa, Régis Afonso, Gomes, Leonardo Henrique Ferreira, dos Santos Cunha, Wilton Darleans, Tyszler, Latife Salomão, Freitas, Silvia, Llerena Junior, Juan Clinton, de Vasconcelos, Zilton Farias Meira, Nicholls, Robert D., Guida, Letícia da Cunha
Publicado 2020

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

por Cardoso, Leila Cabral de Almeida, Parra, Alejandro, Gil, Cristina Ríos, Arias, Pedro, Gallego, Natalia, Romanelli, Valeria, Kantaputra, Piranit Nik, Lima, Leonardo, Llerena Júnior, Juan Clinton, Arberas, Claudia, Guillén-Navarro, Encarna, Nevado, Julián, Tenorio-Castano, Jair, Lapunzina, Pablo
Publicado 2022