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 | 28 | 2018 |
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 | 21 | 2014 |
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 | 14 | 2022 |
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 | 10 | 2014 |
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 | 9 | 2018 |
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 | 9 | 2017 |
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 | 6 | 2020 |
A importância dos resultados do CMA no aconselhamento genético das famílias com probandos apresentando deficiência intelectual. IP Pinto Pontifícia Universidade Católica de Goiás, 2015 | 6 | 2015 |
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 | 5 | 2022 |
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 | 5 | 2016 |
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 | 5 | 2015 |
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 | 4 | 2021 |
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 | 4 | 2020 |
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 | 3 | 2024 |
Cytogenomic Microarray Testing IP Pinto, A da Cruz, E Costa, S Pereira, L Minasi, A da Cruz Cytogenetics-Past, Present and Further Perspectives, 2018 | 3 | 2018 |
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 | 3 | 2017 |
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 | 3 | 2015 |
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 | 1 | 2022 |
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 | 1 | 2019 |
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 | 1 | 2019 |