Publicações

2021

Convergent molecular mechanisms underlying cognitive impairment in mucopolysaccharidosis type II 

Thiago Corrêa, Fabiano Poswar, Cíntia B Santos-Rebouças

   Metab Brain Dis | Volume 37(6), 2089-2102 | DOI: https://doi.org/10.1007/s11011-021-00872-8

Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome 

Bianca Barbosa Abdala, Andressa Pereira Gonçalves, Jussara Mendonça Dos Santos, Raquel Boy, Claudia Marcia Benedetto de Carvalho, Christopher M Grochowski, Ana Cristina Victorino Krepischi, Carla Rosenberg, Leonor Gusmão, Davut Pehlivan, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças

  Eur J Med Genet | Volume 64(12), 104367 | DOI: https://doi.org/10.1016/j.ejmg.2021.104367

Shared Neurodevelopmental Perturbations Can Lead to Intellectual Disability in Individuals with Distinct Rare Chromosome Duplications

Thiago Corrêa, Cíntia B Santos-Rebouças, Maytza Mayndra, Albert Schinzel, Mariluce Riegel

 Genes | Volume 12(5), 632 | DOI: https://doi.org/10.3390/genes12050632

Strict network analysis of evolutionary conserved and brain-expressed genes reveals new putative candidates implicated in Intellectual Disability and in Global Development Delay

Rafael Mina Piergiorge, Ana Tereza Ribeiro de Vasconcelos, Márcia Mattos Gonçalves Pimentel, Cíntia Barros Santos-Rebouças

 World J Biol Psychiatry | Volume 22(6), 435-445 | DOI: https://doi.org/10.1080/15622975.2020.1821916

The remodel of the “central dogma”: a metabolomics interaction perspective

Gilson Costa dos Santos Jr., Mariana Renovato-Martins & Natália Mesquita de Brito 

Metabolomics | Volume 17, 48 | DOI: https://doi.org/10.1007/s11306-021-01800-8

Unveiling the physicochemical properties and chemical profile of artisanal jabuticaba wines by bromatological and NMR-based metabolomics approaches

Ellis Helena B.C. Macedo, Gilson C. Santos, Michele N. Santana, Edgar Francisco O. Jesus, Ubiratan B. de Araújo, Marcelino J. Anjos, Anderson S. Pinheiro, Carla S. Carneiro, Igor A. Rodrigues

LWT | Volume 146, 111371 | DOI: https://doi.org/10.1016/j.lwt.2021.111371

Metabolomics in cancer and cancer-associated inflammatory cells

Gilson Costa dos Santos, Roberta Saldanha-Gama, Natália Mesquita de Brito, Mariana Renovato-Martins, Christina Barja-Fidalgo

Journal of Cancer Metastasis and Treatment | Volume 7, 1 | DOI: https://doi.org/10.20517/2394-4722.2020.86