Inflammation markers in the saliva of infants born from Zika-infected mothers: exploring potential mechanisms of microcephaly during fetal development DN de Oliveira, EO Lima, CFOR Melo, J Delafiori, TM Guerreiro, ... Scientific reports 9 (1), 13606, 2019 | 24 | 2019 |
Desbuquois dysplasia type II in a patient with a homozygous mutation in XYLT1 and new unusual findings C Silveira, GF Leal, DP Cavalcanti American Journal of Medical Genetics Part A 170 (11), 3043-3047, 2016 | 22 | 2016 |
Skeletal dysplasias in Latin America DP Cavalcanti, V Fano, C Mellado, MDJ Lacarrubba‐Flores, C Silveira, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2020 | 14 | 2020 |
Molecular diagnosis in a cohort of 114 patients with rare skeletal dysplasias KC Silveira, TY Kanazawa, C Silveira, MDJ Lacarrubba‐Flores, ... American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2021 | 7 | 2021 |
SLC26A2/DTDST spectrum: a cohort of 12 patients associated with a comprehensive review of the genotype-phenotype correlation C Silveira, K da Costa Silveira, MD Lacarrubba-Flores, MT Sakata, ... Molecular Syndromology 13 (6), 485-495, 2022 | 6 | 2022 |
Neonatal screening for spinal muscular atrophy: A pilot study in Brazil AB Oliveira, AC Brusius-Facchin, JF Lemos, FB Pasetto, CS Brasil, ... Genetics and Molecular Biology 46 (3 Suppl 1), e20230126, 2023 | 3 | 2023 |
A mesomelic skeletal dysplasia, Kantaputra‐like, not related to HOXD cluster region, and with phenotypic gender differences MDJ Lacarrubba‐Flores, K da Costa Silveira, C Silveira, BS Carvalho, ... American Journal of Medical Genetics Part A 194 (2), 328-336, 2024 | 1 | 2024 |
O49: Newborn screening for spinal muscular atrophy using real-time PCR: A pilot study in Brazil ABO Netto, ACB Facchin, J Lemos, FB Pasetto, P Wiest, V Coutinho, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
Sequenciamento de nova geração na investigação molecular das displasias esqueléticas associadas a um comprometimento articular major C Silveira [sn], 2021 | | 2021 |
Lethal skeletal dysplasias: molecular investigation in a series of 62 fetus, including a novel phenotype DP Cavalcanti, TY Kanazawa, KC Silveira, C Silveira, CA Moreno, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 234-234, 2018 | | 2018 |
Molecular analysis with a panel of genes in a cohort of 18 patients with Skeletal Dysplasia associated with multiple joint dislocations C Silveira, K Silveira, MD Lacarruba, GF Leal, LM Martín, JM Pina Neto, ... Resumos, 2017 | | 2017 |
Investigação das displasias esqueléticas associadas a luxações e outros problemas articulares a partir do sequenciamento de um painel de genes FLNB, CANT1, XYLT1, KIF22 … C Silveira [sn], 2016 | | 2016 |
Investigação molecular das osteocondrodisplasias com importante comprometimento articular a partir do sequenciamento de um painel de genes C Silveira, K Silveira, P Bernardi, COB Buck, GF Leal, TM Felix, ... Trabalhos apresentados, 2015 | | 2015 |
Inflammation markers in the saliva of infants born from Zika-infected mothers: exploring potential mechanisms of microcephaly during fetal development TM Guerreiro, RGM Rodrigues, KN Morishita, C Silveira, SP Muraro, ... | | |