Detalhe da pesquisa
1.
The transcriptome profile of human trisomy 21 blood cells.
Hum Genomics
; 15(1): 25, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33933170
2.
Human trisomy 21 fibroblasts rescue methotrexate toxic effect after treatment with 5-methyl-tetrahydrofolate and 5-formyl-tetrahydrofolate.
J Cell Physiol
; 234(9): 15010-15024, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30667057
3.
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype.
Hum Mol Genet
; 25(12): 2525-2538, 2016 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106104
4.
Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases.
Genomics
; 109(5-6): 391-400, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28648597
5.
Integrated Transcriptome Map Highlights Structural and Functional Aspects of the Normal Human Heart.
J Cell Physiol
; 232(4): 759-770, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27345625
6.
A molecular view of the normal human thyroid structure and function reconstructed from its reference transcriptome map.
BMC Genomics
; 18(1): 739, 2017 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28923001
7.
A quantitative transcriptome reference map of the normal human hippocampus.
Hippocampus
; 26(1): 13-26, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26108741
8.
A quantitative transcriptome reference map of the normal human brain.
Neurogenetics
; 15(4): 267-87, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25185649
9.
Improving mRNA 5' coding sequence determination in the mouse genome.
Mamm Genome
; 25(3-4): 149-59, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24504701
10.
First clinical evidence that trimethylsulfonium can serve as a biomarker for the production of the signaling molecule hydrogen sulfide.
Clin Chim Acta
; 554: 117780, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38266970
11.
The functional roles of S-adenosyl-methionine and S-adenosyl-homocysteine and their involvement in trisomy 21.
Biofactors
; 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38353465
12.
Zinc metabolism and its role in immunity status in subjects with trisomy 21: chromosomal dosage effect.
Front Immunol
; 15: 1362501, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38694501
13.
Machine learning based analysis for intellectual disability in Down syndrome.
Heliyon
; 9(9): e19444, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37810082
14.
Cognitive profiles in children and adolescents with Down syndrome.
Sci Rep
; 12(1): 1936, 2022 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35121796
15.
One-carbon pathway metabolites are altered in the plasma of subjects with Down syndrome: Relation to chromosomal dosage.
Front Med (Lausanne)
; 9: 1006891, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36530924
16.
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.
BMC Med Genomics
; 15(1): 266, 2022 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36544206
17.
A reassessment of Jackson's checklist and identification of two Down syndrome sub-phenotypes.
Sci Rep
; 12(1): 3104, 2022 02 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35210468
18.
Structural Characterization of the Highly Restricted Down Syndrome Critical Region on 21q22.13: New KCNJ6 and DSCR4 Transcript Isoforms.
Front Genet
; 12: 770359, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34956324
19.
One-carbon pathway and cognitive skills in children with Down syndrome.
Sci Rep
; 11(1): 4225, 2021 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33608632
20.
Is the Age of Developmental Milestones a Predictor for Future Development in Down Syndrome?
Brain Sci
; 11(5)2021 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34069813