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

Insights into the Chemical Biology of Childhood Embryonal Solid Tumors by NMR-Based Metabolomics

por Quintero Escobar, Melissa, Maschietto, Mariana, Krepischi, Ana C. V., Avramovic, Natasa, Tasic, Ljubica
Publicado 2019

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

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

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

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

Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene

por Villela, Darine, Kimura, Lilian, Schlesinger, David, Gonçalves, Amanda, Pearson, Peter L., Suemoto, Claudia K., Pasqualucci, Carlos, Krepischi, Ana Cristina, Grinberg, Lea T., Rosenberg, Carla
Publicado 2013

Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer's Disease Individuals

por Villela, Darine, Ramalho, Rodrigo F., Silva, Aderbal R. T., Brentani, Helena, Suemoto, Claudia K., Pasqualucci, Carlos Augusto, Grinberg, Lea T., Krepischi, Ana C. V., Rosenberg, Carla
Publicado 2016

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients

por Silva, Felipe C, Lisboa, Bianca CG, Figueiredo, Marcia CP, Torrezan, Giovana T, Santos, Érika MM, Krepischi, Ana C, Rossi, Benedito M, Achatz, Maria I, Carraro, Dirce M
Publicado 2014

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

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

Chromoanagenesis Event Underlies a de novo Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin–Siris Syndrome

por Grochowski, Christopher M., Krepischi, Ana C. V., Eisfeldt, Jesper, Du, Haowei, Bertola, Debora R., Oliveira, Danyllo, Costa, Silvia S., Lupski, James R., Lindstrand, Anna, Carvalho, Claudia M. B.
Publicado 2021

HDAC1-Dependent Repression of Markers of Hepatocytes and P21 Is Involved in Development of Pediatric Liver Cancer

por Rivas, Maria, Johnston, Michael E., Gulati, Ruhi, Kumbaji, Meenasri, Margues Aguiar, Talita Ferreira, Timchenko, Lubov, Krepischi, Ana, Shin, Soona, Bondoc, Alexander, Tiao, Gregory, Geller, James, Timchenko, Nikolai
Publicado 2021

RF34 | PMON203 Copy Number Variant Analysis Reveals Novel Candidate Genes Associated with Primary Ovarian Insufficiency

por Franca, Monica, Moraes, Daniela, Franca, Monica, Krepischi, Ana, Faria-Jr, Jose, Costa, Elaine, Hayashida, Sylvia, Maciel, Gustavo, Costa, Silvia, Kulikowski, Leslie, Jorge, Alexsander, Mendonca, Berenice, Domenice, Sorahia
Publicado 2022

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