Detalhe da pesquisa
1.
Analysis for variable manifestations and molecular characteristics of pyridox(am)ine-5'-phosphate oxidase (PNPO) deficiency.
Hum Mol Genet
; 32(11): 1765-1771, 2023 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36106796
2.
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.
Am J Hum Genet
; 108(1): 176-185, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33245860
3.
FBXO22 Mediates the NGF/TRKA Signaling Pathway in Bone Metastases in Prostate Cancer.
Am J Pathol
; 193(9): 1248-1266, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301536
4.
Novel copy number variations and phenotypes of infantile epileptic spasms syndrome.
Clin Genet
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38544467
5.
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
Cell Mol Life Sci
; 80(11): 345, 2023 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921875
6.
Esophageal cancer cell-derived small extracellular vesicles decrease circulating Tfh/Tfr via sEV-PDL1 to promote immunosuppression.
Cancer Immunol Immunother
; 72(12): 4249-4259, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37943341
7.
Detecting genomic mosaicism in "de novo" genetic epilepsy by amplicon-based deep sequencing.
J Hum Genet
; 68(2): 73-80, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36482122
8.
Ubiquitin-specific peptidase 47 (USP47) regulates cutaneous oxidative injury through nicotinamide nucleotide transhydrogenase (NNT).
Toxicol Appl Pharmacol
; 480: 116734, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924851
9.
CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia.
Mov Disord
; 38(7): 1282-1293, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37148549
10.
MicroRNA-7a-5p ameliorates diabetic peripheral neuropathy by regulating VDAC1/JNK/c-JUN pathway.
Diabet Med
; 40(1): e14890, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35616949
11.
Lysine demethylase KDM5B down-regulates SIRT3-mediated mitochondrial glucose and lipid metabolism in diabetic neuropathy.
Diabet Med
; 40(1): e14964, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130801
12.
Extranodal natural killer/T-cell lymphoma with hepatosplenic involvement: a retrospective study of a consecutive 14-year case series.
Ann Hematol
; 102(10): 2803-2813, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37434096
13.
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Brain
; 145(5): 1668-1683, 2022 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35190816
14.
Survival and clinicopathological significance of blood vessel invasion in operable breast cancer: a systematic review and meta-analysis.
Jpn J Clin Oncol
; 53(1): 35-45, 2023 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36156086
15.
Lipid droplet-specific near-infrared fluorescent probe for discriminating cancer and normal cells and diagnosing fatty liver.
Bioorg Chem
; 140: 106800, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37643567
16.
A simple ratiometric fluorescent probe for two-photon imaging of carbon monoxide in living cells and zebrafish.
Bioorg Chem
; 135: 106489, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37003133
17.
DYNC1H1-related epilepsy: Genotype-phenotype correlation.
Dev Med Child Neurol
; 65(4): 534-543, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36175372
18.
Seizure course of PCDH19 clustering epilepsy in female children: A multicentre cohort study in China.
Dev Med Child Neurol
; 2023 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37960945
19.
Estimation of gastric cancer burden attributable to Helicobacter pylori infection in Asia.
J Public Health (Oxf)
; 45(1): 40-46, 2023 03 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35137200
20.
[Analysis of genetic variant in a child with Pitt-Hopkins syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(12): 1556-1559, 2023 Dec 10.
Artigo
em Zh
| MEDLINE | ID: mdl-37994142