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Yanca Gasparini
Yanca Gasparini
PhD em Genômica
在 usp.br 的电子邮件经过验证
标题
引用次数
引用次数
年份
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
152019
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
102020
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
82020
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
32022
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
12023
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
12022
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
12022
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, ...
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