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Irene Plaza Pinto
Irene Plaza Pinto
Pesquisadora Pós-doutoranda, Pontifícia Universidade Católica de Goiás
在 unifimes.edu.br 的电子邮件经过验证
标题
引用次数
引用次数
年份
Small de novo CNVs as biomarkers of parental exposure to low doses of ionizing radiation of caesium-137
EOA Costa, IP Pinto, MW Gonçalves, JF da Silva, LG Oliveira, AS da Cruz, ...
Scientific reports 8 (1), 5914, 2018
282018
Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from Central Brazil
RR Pereira, IP Pinto, LB Minasi, AV de Melo, DM da Cruz e Cunha, ...
PloS one 9 (7), e103117, 2014
212014
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole …
AJC Leite, IP Pinto, N Leijsten, M Ruiterkamp-Versteeg, R Pfundt, ...
PLoS One 17 (4), e0266493, 2022
142022
A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using …
IP Pinto, LB Minasi, AS da Cruz, AV de Melo, DM da Cruz e Cunha, ...
Molecular Cytogenetics 7, 1-7, 2014
102014
Mosaic Tetrasomy of 9p24. 3q21. 11 postnatally identified in an infant born with multiple congenital malformations: a case report
IP Pinto, LB Minasi, R Steckelberg, CC da Silva, AD da Cruz
BMC pediatrics 18, 1-4, 2018
92018
Molecular characterization of koolen de vries syndrome in two girls with idiopathic intellectual disability from Central Brazil
GR Nascimento, IP Pinto, AV de Melo, DM da Cruz, CL Ribeiro, ...
Molecular Syndromology 8 (3), 155-160, 2017
92017
Genetic markers for improving farm animals
R Deb, CS Mukhopadhyay, GS Sengar, AS da Cruz, DC Silva, IP Pinto, ...
Genomics and Biotechnological Advances in Veterinary, Poultry, and Fisheries …, 2020
62020
A importância dos resultados do CMA no aconselhamento genético das famílias com probandos apresentando deficiência intelectual.
IP Pinto
Pontifícia Universidade Católica de Goiás, 2015
62015
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders
A Ben-Mahmoud, KR Jun, V Gupta, P Shastri, A de la Fuente, Y Park, ...
Frontiers in Molecular Neuroscience 15, 979061, 2022
52022
The Identification of Microdeletion and Reciprocal Microduplication in 22q11. 2 Using High‐Resolution CMA Technology
AJC Leite, IP Pinto, DMC Cunha, CL Ribeiro, CC da Silva, AD da Cruz, ...
BioMed research international 2016 (1), 7415438, 2016
52016
Postnatal diagnosis of constitutive ring chromosome 13 using both conventional and molecular cytogenetic approaches
LB Minasi, IP Pinto, JG de Almeida, AV de Melo, DMC Cunha, CL Ribeiro, ...
Genetics and Molecular Research 14 (1), 11692-11699, 2015
52015
Genomic variations in patients with myelodysplastic syndrome and karyotypes without numerical or structural changes
CL Ribeiro, IP Pinto, SSS Pereira, LB Minasi, F de SM Kluthcouski, ...
Scientific Reports 11 (1), 2783, 2021
42021
Deviation from Mendelian transmission of autosomal SNPs can be used to estimate germline mutations in humans exposed to ionizing radiation
HP Leite Filho, IP Pinto, LG Oliveira, EOA Costa, AS da Cruz, DM e Silva, ...
Plos one 15 (10), e0233941, 2020
42020
Longos trechos contíguos em homozigose identificados por análise cromossômica por microarranjos em uma população com deficiência intelectual e transtorno do espectro autista do …
AR de Carvalho Neta, IP Pinto, AS da Cruz, AD da Cruz, LB Minasi
Conjecturas 24 (1), 355-367, 2024
32024
Cytogenomic Microarray Testing
IP Pinto, A da Cruz, E Costa, S Pereira, L Minasi, A da Cruz
Cytogenetics-Past, Present and Further Perspectives, 2018
32018
A rare case of a boy with de novo microduplication at 5q35. 2q35. 3 from central Brazil
FG Reis, IP Pinto, LB Minasi, AV Melo, DM Cunha, CL Ribeiro, ...
Genet Mol Res 16 (1), 2017
32017
Reward deficiency syndrome in children: obesity and metabolic disorders are associated with the SNP TaqIA C32806T of the DRD2 gene
RM Pinto, DM Silva, FJ Queiroz, FR Godoy, LDS Teodoro, I Lacerda, ...
Obes Res Open J 2 (2), 64-72, 2015
32015
Diagnostic yield of patients with undiagnosed intellectual disability, global developmental delay and multiples congenital anomalies using karyotype, microarray analysis, whole …
AJ da Cunha Leite, IP Pinto, N Leijsten, M Ruiterkamp-Versteeg, R Pfundt, ...
PLoS One 17 (4), 2022
12022
High diversity of chromosomal aberrations in a Brazilian myelodysplastic syndrome cohort
CL Ribeiro, IP Pinto, MO Diogo, DMC e Cunha, LB Minasi, ...
Genet. Mol. Res 18 (2), 18322, 2019
12019
Aumento na taxa de diagnóstico genético dos pacientes a partir da identificação de CNVs, por CMA, envolvendo genes implicados com a manifestação clínica da deficiência intelectual
IP Pinto
12019
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