Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients P Varela, G Mastroianni Kirsztajn, FL Motta, RP Martin, LT Turaça, ... Orphanet journal of rare diseases 15, 1-12, 2020 | 17 | 2020 |
Hereditary angioedema-associated acute pancreatitis in C1-inhibitor deficient and normal C1-inhibitor patients: case reports and literature review CL Veronez, RA Campos, RN Constantino-Silva, P Nicolicht, ... Frontiers in medicine 6, 80, 2019 | 14 | 2019 |
Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families P Nicolicht, DOS Faria, L Martins-Silva, LSM Maia, AS Moreno, LK Arruda, ... Gene 685, 179-185, 2019 | 7 | 2019 |
Functional characterization of novel variants found in patients with suspected Fabry disease P Varela-Calais, P Nicolicht, RP Martin, J Yamamoto, V D'Almeida, ... Clinica Chimica Acta 534, 156-160, 2022 | 5 | 2022 |
Simple and efficient protocol to isolate and culture brain microvascular endothelial cells from newborn mice P Nicolicht-Amorim, LM Delgado-Garcia, TKE Nakamura, NR Courbassier, ... Frontiers in Cellular Neuroscience 16, 949412, 2022 | 4 | 2022 |
Genetic Profile of Inborn Errors of Immunity Using Whole Exome Sequencing in Individuals With BCG Localized Adverse Events SAMG Monteiro, RP Martin, R Filippelli-Silva, MM Marins, CP Gomes, ... | | 2021 |
Corrigendum to" Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families … P Nicolicht, DOS Faria, L Martins-Silva, LSM Maia, AS Moreno, LK Arruda, ... Gene 725, 143896, 2020 | | 2020 |
Gene mapping strategy for Alu elements rearrangements: Detection of new large deletions in the SERPING1 gene causing hereditary angioedema in Brazilian families (vol 685C, pg … P Nicolicht, DOS Faria, L Martins-Silva, LSM Maia, AS Moreno, LK Arruda, ... Gene, 2020 | | 2020 |
Desenvolvimento da técnica de quantificação de exons (TQE) para a detecção de grandes deleções e inserções no gene SERPING1 para o diagnóstico de angiodema hereditário PN Amorim | | 2017 |
A Brazilian profile of GLA gene mutations: A review of ten years experience with diagnosis of Fabry disease JB Pesquero, P Varela, FL Motta, CP Gomes, JG Pessoa, M Marins, ... Molecular Genetics and Metabolism 2 (117), S94, 2016 | | 2016 |
Different clinical profiles in 17 Brazilian families with Hereditary Angioedema without Cl inhibitor deficiency AS Grumach, CL Veronez, N Cagini, C Stieber, P Nicolicht, ... MOLECULAR IMMUNOLOGY 61 (2), 220-221, 2014 | | 2014 |