Detalhe da pesquisa
1.
Metabolic Adaptations Correlated with Antibody Response after Immunization with Inactivated SARS-CoV-2 in Brazilian Subjects.
J Proteome Res
; 22(6): 1908-1922, 2023 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37167433
2.
Host genetic susceptibility underlying SARS-CoV-2-associated Multisystem Inflammatory Syndrome in Brazilian Children.
Mol Med
; 28(1): 153, 2022 12 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36510129
3.
A de novo YY1 missense variant expanding the Gabriele-de Vries syndrome phenotype and affecting X-chromosome inactivation.
Metab Brain Dis
; 37(7): 2431-2440, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35829845
4.
De novo unbalanced translocations have a complex history/aetiology.
Hum Genet
; 137(10): 817-829, 2018 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-30276538
5.
Roles of CDKN1A gene polymorphisms (rs1801270 and rs1059234) in the development of cervical neoplasia.
Tumour Biol
; 37(8): 10469-78, 2016 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-26846214
6.
Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.
Am J Hum Genet
; 91(2): 252-64, 2012 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-22840365
7.
Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability.
J Hum Genet
; 60(4): 207-11, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25652354
8.
Understanding the (epi)genetic dysregulation in Parkinson's disease through an integrative brain competitive endogenous RNA network.
Mech Ageing Dev
; 219: 111942, 2024 May 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38762037
9.
Immune response stability to the SARS-CoV-2 mRNA vaccine booster is influenced by differential splicing of HLA genes.
Sci Rep
; 14(1): 8982, 2024 04 18.
Artigo
Inglês
| MEDLINE | ID: mdl-38637586
10.
Exploring the interplay between metabolomics and genetics in Parkinson's disease: Insights from ongoing research and future avenues.
Mech Ageing Dev
; 216: 111875, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37748695
11.
TP53 and p21 (CDKN1A) polymorphisms and the risk of systemic lupus erythematosus.
Adv Rheumatol
; 63(1): 43, 2023 08 21.
Artigo
Inglês
| MEDLINE | ID: mdl-37605254
12.
Multi-layered transcriptomic analysis reveals a pivotal role of FMR1 and other developmental genes in Alzheimer's disease-associated brain ceRNA network.
Comput Biol Med
; 166: 107494, 2023 Sep 20.
Artigo
Inglês
| MEDLINE | ID: mdl-37769462
13.
Identification of a novel epigenetic marker for typical and mosaic presentations of Fragile X syndrome.
Expert Rev Mol Diagn
; 23(12): 1273-1281, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37970883
14.
Strict network analysis of evolutionary conserved and brain-expressed genes reveals new putative candidates implicated in Intellectual Disability and in Global Development Delay.
World J Biol Psychiatry
; 22(6): 435-445, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32914658
15.
Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.
Eur J Med Genet
; 64(12): 104367, 2021 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-34678473
16.
Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.
Mol Neurobiol
; 57(9): 3671-3684, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-32564284
17.
Network Profiling of Brain-Expressed X-Chromosomal MicroRNA Genes Implicates Shared Key MicroRNAs in Intellectual Disability.
J Mol Neurosci
; 67(2): 295-304, 2019 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-30604382
18.
A study of LRRK2 mutations and Parkinson's disease in Brazil.
Neurosci Lett
; 433(1): 17-21, 2008 Mar 05.
Artigo
Inglês
| MEDLINE | ID: mdl-18201824
19.
TP53 and p21 (CDKN1A) polymorphisms and the risk of systemic lupus erythematosus
Adv Rheumatol
; 63: 43, 2023. tab, graf
Artigo
Inglês
|
LILACS-Express
| ID: biblio-1513563
20.
Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males.
Brain Dev
; 29(5): 293-7, 2007 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-17084570