Detalhe da pesquisa
1.
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients.
Genes Immun
; 23(1): 51-56, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34952932
2.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Hum Genet
; 141(1): 147-173, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34889978
3.
A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome.
Vascular
; 29(1): 85-91, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-32588787
4.
C9orf72 Intermediate Repeats Confer Genetic Risk for Severe COVID-19 Pneumonia Independently of Age.
Int J Mol Sci
; 22(13)2021 06 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34209673
5.
PIK3CA-CDKN2A clonal evolution in metastatic breast cancer and multiple points cell-free DNA analysis.
Cancer Cell Int
; 19: 274, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31673247
6.
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome.
Exp Cell Res
; 368(2): 225-235, 2018 07 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29730163
7.
Urine-derived podocytes-lineage cells: A promising tool for precision medicine in Alport Syndrome.
Hum Mutat
; 39(2): 302-314, 2018 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29098738
8.
Mouse pulmonary adenoma susceptibility 1 locus is an expression QTL modulating Kras-4A.
PLoS Genet
; 10(4): e1004307, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24743582
9.
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.
Mol Genet Metab
; 119(3): 214-222, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27623250
10.
Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress.
Int J Mol Sci
; 17(3): 306, 2016 Feb 27.
Artigo
Inglês
| MEDLINE | ID: mdl-26927095
11.
Germline polymorphisms and survival of lung adenocarcinoma patients: a genome-wide study in two European patient series.
Int J Cancer
; 136(5): E262-71, 2015 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25196286
12.
Low-level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia.
Br J Haematol
; 184(4): 657-659, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-29460960
13.
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
Am J Med Genet A
; 164A(7): 1666-76, 2014 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-24700646
14.
Differential gene expression analysis pipelines and bioinformatic tools for the identification of specific biomarkers: A review.
Comput Struct Biotechnol J
; 23: 1154-1168, 2024 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38510977
15.
Gene expression signature of non-involved lung tissue associated with survival in lung adenocarcinoma patients.
Carcinogenesis
; 34(12): 2767-73, 2013 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-23978379
16.
Different Liquid Biopsies for the Management of Non-Small Cell Lung Cancer in the Mutational Oncology Era.
Med Sci (Basel)
; 11(1)2023 01 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36649045
17.
Modeling PCDH19 clustering epilepsy by Neurogenin 2 induction of patient-derived induced pluripotent stem cells.
Epileptic Disord
; 25(3): 371-382, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-37186408
18.
Case report: PIK3CA somatic mutation leading to Klippel Trenaunay Syndrome and multiple tumors.
Front Genet
; 14: 1213283, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37662840
19.
Association of lung adenocarcinoma clinical stage with gene expression pattern in noninvolved lung tissue.
Int J Cancer
; 131(5): E643-8, 2012 Sep 01.
Artigo
Inglês
| MEDLINE | ID: mdl-22223368
20.
Diagnostic accuracy of circulating free DNA testing for the detection of KRAS mutations in non-small cell lung cancer: A systematic review and meta-analysis.
Front Genet
; 13: 1015161, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36386815