Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes

por Bastos, Giovanna Civitate, Tolezano, Giovanna Cantini, Krepischi, Ana Cristina Victorino
Publicado 2022

Clinical and genetic characterization of basal cell carcinoma and breast cancer in a single patient

por Morelle, Alessandra, Cericatto, Rodrigo, Krepischi, Ana Cristina Victorino, Ruiz, Itamar Romano Garcia
Publicado 2014

Genome-wide profiling of copy number alterations in triple-negative breast cancer identifies a region at 19p13 associated with lymph node metastasis

por Fidalgo, Felipe, Gonçalves, Amanda, Rodrigues, Tatiane, Fiorini, Alex, Carraro, Dirce Maria, Rosenberg, Carla, Krepischi, Ana Cristina Victorino
Publicado 2013

Carcinoma ex-pleomorphic adenoma derived from recurrent pleomorphic adenoma shows important difference by array CGH compared to recurrent pleomorphic adenoma without malignant tran...

por Mariano, Fernanda Viviane, Giovanetti, Karina, Saccomani, Luis Fernando Vidal, Del Negro, André, Kowalski, Luiz Paulo, Krepischi, Ana Cristina Victorino, Altemani, Albina
Publicado 2016

Genomic profile of a squamous cell carcinoma ex pleomorphic adenoma compared to a head and neck squamous cell carcinoma()

por Mariano, Fernanda Viviane, Saccomani, Luis Fernando Vidal, Giovanetti, Karina, Del Negro, André, Kowalski, Luiz Paulo, Krepischi, Ana Cristina Victorino, Altemani, Albina
Publicado 2016

A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

por Torrezan, Giovana Tardin, da Silva, Felipe Cavalcanti Carneiro, Krepischi, Ana Cristina Victorino, dos Santos, Érika Maria Monteiro, Rossi, Benedito Mauro, Carraro, Dirce Maria
Publicado 2012

Lymphovascular invasion and histologic grade are associated with specific genomic profiles in invasive carcinomas of the breast

por Fidalgo, Felipe, Rodrigues, Tatiane Cristina, Pinilla, Mabel, Silva, Amanda Gonçalves, Maciel, Maria do Socorro, Rosenberg, Carla, de Andrade, Victor Piana, Carraro, Dirce Maria, Krepischi, Ana Cristina Victorino
Publicado 2014

Mutational spectrum of the APC and MUTYH genes and genotype–phenotype correlations in Brazilian FAP, AFAP, and MAP patients

por Torrezan, Giovana Tardin, da Silva, Felipe Cavalcanti Carneiro, Santos, Érika Maria Monteiro, Krepischi, Ana Cristina Victorino, Achatz, Maria Isabel Waddington, Junior, Samuel Aguiar, Rossi, Benedito Mauro, Carraro, Dirce Maria
Publicado 2013

Investigating Genetic Factors Contributing to Variable Expressivity of Class I 17p13.3 Microduplication

por Tolezano, Giovanna Cantini, da Costa, Silvia Souza, Scliar, Marília de Oliveira, Fernandes, Walter Luis Magalhães, Otto, Paulo Alberto, Bertola, Débora Romeo, Rosenberg, Carla, Vianna-Morgante, Angela Maria, Krepischi, Ana Cristina Victorino
Publicado 2020

Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families

por Fidalgo, Felipe, Torrezan, Giovana Tardin, de Sá, Bianca Costa Soares, Barros, Bruna Durães de Figueiredo, Moredo, Luciana Facure, Valieris, Renan, de Souza, Sandro J., Duprat, João Pereira, Krepischi, Ana Cristina Victorino, Carraro, Dirce Maria
Publicado 2022

Preclinical Evaluation of the Tumorigenic and Immunomodulatory Properties of Human Bone Marrow Mesenchymal Stromal Cell Populations with Clonal Trisomy 5

por Marodin, Maria Susana Joya, Godoy, Juliana A., Alves-Paiva, Raquel M., Alvarez, Kelen, Mitsugi, Thiago Giove, Krepischi, Ana Cristina Victorino, Hamerschlak, Nelson, Bortolini, Maria Augusta Tezelli, Castro, Rodrigo, Kondo, Andrea T., Kutner, Jose Mauro, Okamoto, Oswaldo Keith
Publicado 2022

Analysis of the Mutational Landscape of Osteosarcomas Identifies Genes Related to Metastasis and Prognosis and Disrupted Biological Pathways of Immune Response and Bone Development

por Pires, Sara Ferreira, de Barros, Juliana Sobral, da Costa, Silvia Souza, do Carmo, Gabriel Bandeira, Scliar, Marília de Oliveira, Lengert, André van Helvoort, Boldrini, Érica, da Silva, Sandra Regini Morini, Vidal, Daniel Onofre, Maschietto, Mariana, Krepischi, Ana Cristina Victorino
Publicado 2023

TET Upregulation Leads to 5-Hydroxymethylation Enrichment in Hepatoblastoma

por Rivas, Maria Prates, Aguiar, Talita Ferreira Marques, Fernandes, Gustavo Ribeiro, Caires-Júnior, Luiz Carlos, Goulart, Ernesto, Telles-Silva, Kayque Alves, Cypriano, Monica, de Toledo, Silvia Regina Caminada, Rosenberg, Carla, Carraro, Dirce Maria, da Costa, Cecilia Maria Lima, da Cunha, Isabela Werneck, Krepischi, Ana Cristina Victorino
Publicado 2019

Copy Number Alterations in Hepatoblastoma: Literature Review and a Brazilian Cohort Analysis Highlight New Biological Pathways

por Barros, Juliana Sobral, Aguiar, Talita Ferreira Marques, Costa, Silvia Souza, Rivas, Maria Prates, Cypriano, Monica, Toledo, Silvia Regina Caminada, Novak, Estela Maria, Odone, Vicente, Cristofani, Lilian Maria, Carraro, Dirce Maria, Werneck da Cunha, Isabela, Costa, Cecília Maria Lima, Vianna-Morgante, Angela M., Rosenberg, Carla, Krepischi, Ana Cristina Victorino
Publicado 2021

A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a r...

por Ferreira, Elisa Napolitano, Barros, Bruna Durães Figueiredo, de Souza, Jorge Estefano, Almeida, Renan Valieris, Torrezan, Giovana Tardin, Garcia, Sheila, Krepischi, Ana Cristina Victorino, Mello, Celso Abdon Lopes de, Cunha, Isabela Werneck da, Pinto, Clóvis Antonio Lopes, Soares, Fernando Augusto, Dias-Neto, Emmanuel, Lopes, Ademar, de Souza, Sandro José, Carraro, Dirce Maria
Publicado 2016

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients

por Aguiar, Talita Ferreira Marques, Rivas, Maria Prates, Costa, Silvia, Maschietto, Mariana, Rodrigues, Tatiane, Sobral de Barros, Juliana, Barbosa, Anne Caroline, Valieris, Renan, Fernandes, Gustavo R., Bertola, Debora R., Cypriano, Monica, Caminada de Toledo, Silvia Regina, Major, Angela, Tojal, Israel, Apezzato, Maria Lúcia de Pinho, Carraro, Dirce Maria, Rosenberg, Carla, Lima da Costa, Cecilia Maria, Cunha, Isabela W., Sarabia, Stephen Frederick, Terrada, Dolores-López, Krepischi, Ana Cristina Victorino
Publicado 2020

Molecular and cellular basis of hyperassembly and protein aggregation driven by a rare pathogenic mutation in DDX3X

por de Castro Fonseca, Matheus, de Oliveira, Juliana Ferreira, Araujo, Bruno Henrique Silva, Canateli, Camila, do Prado, Paula Favoretti Vital, Amorim Neto, Dionísio Pedro, Bosque, Beatriz Pelegrini, Rodrigues, Paulla Vieira, de Godoy, João Vitor Pereira, Tostes, Katiane, Filho, Helder Veras Ribeiro, Nascimento, Andrey Fabricio Ziem, Saito, Angela, Tonoli, Celisa Caldana Costa, Batista, Fernanda Aparecida Heleno, de Oliveira, Paulo Sergio Lopes, Figueira, Ana Carolina, Souza da Costa, Silvia, Krepischi, Ana Cristina Victorino, Rosenberg, Carla, Westfahl, Harry, da Silva, Antônio José Roque, Franchini, Kleber Gomes
Publicado 2021