Mosaic trisomy 12 associated with overgrowth detected in fibroblast cell lines Y Gasparini, MM Montenegro, GM Novo-Filho, JRM Ceroni, RS Honjo, ... Cytogenetic and genome research 157 (3), 153-157, 2019 | 15 | 2019 |
Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases MM Montenegro, CR Quaio, P Palmeira, Y Gasparini, A Rangel‐Santos, ... Molecular Genetics & Genomic Medicine 8 (4), e1133, 2020 | 10 | 2020 |
Breakpoint delineation in 5p‐patients leads to new insights about microcephaly and the typical high‐pitched cry SN Chehimi, ÉA Zanardo, JRM Ceroni, AM Nascimento, FAR Madia, ... Molecular Genetics & Genomic Medicine 8 (2), e957, 2020 | 8 | 2020 |
Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p-syndrome SN Chehimi, VT Almeida, AM Nascimento, ÉA Zanardo, YG Oliveira, ... Clinics 77, 100045, 2022 | 3 | 2022 |
Expanding the phenotype of 8p23. 1 deletion syndrome: eight new cases resembling the clinical spectrum of 22q11. 2 microdeletion MM Montenegro, D Camilotti, CRDAC Quaio, Y Gasparini, ÉA Zanardo, ... The Journal of Pediatrics 252, 56-60. e2, 2023 | 1 | 2023 |
Cri-du-chat syndrome: revealing a familial atypical deletion in 5p VT Almeida, SN Chehimi, Y Gasparini, AM Nascimento, GFS Carvalho, ... Molecular syndromology 13 (6), 527-536, 2022 | 1 | 2022 |
The complex search for the cause of gastroschisis AB de Freitas, RPV Francisco, MS Hoshida, YG De Oliveira, ... Birth defects research 114 (19), 1291-1297, 2022 | 1 | 2022 |
Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool GF da Silva Carvalho, CM de Gusmão, BM Wolff, LL Vieira, ... Clinical Epigenetics 16 (1), 169, 2024 | | 2024 |
Implementation of methylation profiling of central nervous system tumors at largest public health center in Brazil BM Wolff, Y Casal, LL Vieira, GFS Carvalho, MR Costa-Siemann, ... | | 2024 |
Differences in DNA methylation status explain phenotypic variability in patients with 5p− syndrome VT Almeida, SN Chehimi, GFS Carvalho, Y Gasparini, AM Nascimento, ... BMC Research Notes 17 (1), 121, 2024 | | 2024 |
ESTUDOS GENÉTICOS POR MLPA E FISH EM MIELOMA MÚLTIPLO MG Cordeiro, LD Kulikowski, AM Leal, PBF Pinotti, EA Ramos, ... Hematology, Transfusion and Cell Therapy 44, S243, 2022 | | 2022 |
Cytogenomic Changes in Sporadic Colorectal Cancer and Surrounding Nonneoplastic Tissues: The Relevance of Subtelomeric Copy Number Variations M Rocha, EA Zanardo, AT Dias, FAR Madia, TVMM Costa, YG Oliveira, ... | | 2021 |
Investigation of the DNA methylation profile in children presenting emergence delirium V Quintao, Y Gasparini, V Almeida, A Dias, M Montenegro, M Carmona, ... SPRINGERNATURE, 2020 | | 2020 |
Front & Back Matter Y Gasparini, MM Montenegro, GM Novo-Filho, JRM Ceroni, RS Honjo, ... Cytogenetic and Genome Research 157 (3), 2019 | | 2019 |
IMPLEMENTATION OF DNA METHYLATION PROFILING FOR BRAIN TUMOR DIAGNOSIS: THE FIRST BRAZILIAN EXPERIENCE FDA COSTA, GF DE CARVALHO, Y GASPARINI, AM DO NASCIMENTO, ... | | |