Number of rare germline CNVs and TP53 mutation types

por Silva, Amanda G, Achatz, Isabel Maria W, Krepischi, Ana CV, Pearson, Peter L, Rosenberg, Carla
Publicado 2012

Mutational spectrum of WTX, WT1, CTNNB1, APC and PLCG2 genes in Wilms tumor defined by massive parallel resequencing

por Barros, Bruna D, Torrezan, Giovana T, Ferreira, Elisa N, Maschietto, Mariana, Krepíschi, Ana CV, Carraro, Dirce M
Publicado 2012

The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations

por Silva, Amanda G, Krepischi, Ana CV, Pearson, Peter L, Hainaut, Pierre, Rosenberg, Carla, Achatz, Maria Isabel
Publicado 2014

Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: Case report

por Torrezan, Giovana T, da Silva, Felipe CC, Krepischi, Ana CV, Santos, Érika MM, de O Ferreira, Fábio, Rossi, Benedito M, Carraro, Dirce M
Publicado 2011

KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability

por Malvezzi, João VM, H Magalhaes, Ingrid, S Costa, Silvia, Otto, Paulo A, Rosenberg, Carla, Bertola, Debora R, LM Fernandes, Walter, Vianna-Morgante, Angela M, Krepischi, Ana CV
Publicado 2018

Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases

por Carneiro, Thaise NR, Krepischi, Ana CV, Costa, Silvia S, Tojal da Silva, Israel, Vianna-Morgante, Angela M, Valieris, Renan, Ezquina, Suzana AM, Bertola, Debora R, Otto, Paulo A, Rosenberg, Carla
Publicado 2018

LINE-1 hypermethylation in peripheral blood of cutaneous melanoma patients is associated with metastasis

por De Araújo, Érica S.S., Kashiwabara, André Y., Achatz, Maria I.W., Moredo, Luciana F., De Sá, Bianca C.S., Duprat, João P., Rosenberg, Carla, Carraro, Dirce M., Krepischi, Ana C.V.
Publicado 2015

Co-expression network of neural-differentiation genes shows specific pattern in schizophrenia

por Maschietto, Mariana, Tahira, Ana C, Puga, Renato, Lima, Leandro, Mariani, Daniel, da Silveira Paulsen, Bruna, Belmonte-de-Abreu, Paulo, Vieira, Henrique, Krepischi, Ana CV, Carraro, Dirce M, Palha, Joana A, Rehen, Stevens, Brentani, Helena
Publicado 2015

Germline DNA copy number variation in familial and early-onset breast cancer

por Krepischi, Ana CV, Achatz, Maria Isabel W, Santos, Erika MM, Costa, Silvia S, Lisboa, Bianca CG, Brentani, Helena, Santos, Tiago M, Gonçalves, Amanda, Nóbrega, Amanda F, Pearson, Peter L, Vianna-Morgante, Angela M, Carraro, Dirce M, Brentani, Ricardo R, Rosenberg, Carla
Publicado 2012

DNA methylation landscape of hepatoblastomas reveals arrest at early stages of liver differentiation and cancer-related alterations

por Maschietto, Mariana, Rodrigues, Tatiane Cristina, Kashiwabara, André Yoshiaki, de Araujo, Érica Sara Souza, Marques Aguiar, Talita Ferreira, da Costa, Cecilia Maria Lima, da Cunha, Isabela Werneck, dos Reis Vasques, Luciana, Cypriano, Monica, Brentani, Helena, de Toledo, Silvia Regina Caminada, Pearson, Peter Lees, Carraro, Dirce Maria, Rosenberg, Carla, Krepischi, Ana C.V.
Publicado 2016