Detalhe da pesquisa
1.
Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotype.
Mol Genet Genomics
; 299(1): 57, 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38787432
2.
Oxidant-Assisted Sulfonylation/Cyclization Cascade Synthesis of Alkylsulfonylated Oxindoles via the Insertion of SO2.
J Org Chem
; 89(8): 5409-5422, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38563439
3.
A novel gain-of-function PIP4K2A mutation elevates the expression of ß-globin and aggravates the severity of α-thalassemia.
Br J Haematol
; 202(5): 1018-1023, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37423903
4.
Investigation of the mechanism of copy number variations involving the α-globin gene cluster on chromosome 16: two case reports and literature review.
Mol Genet Genomics
; 298(1): 131-141, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36326959
5.
Role of OAS gene family in COVID-19 induced heart failure.
J Transl Med
; 21(1): 212, 2023 03 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36949448
6.
Diamond-Blackfan anaemia caused by a de novo initiation codon mutation resulting in a shorter isoform of GATA1.
Clin Genet
; 102(6): 548-554, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029112
7.
Silica nanoparticles cause spermatogenesis dysfunction in mice via inducing cell cycle arrest and apoptosis.
Ecotoxicol Environ Saf
; 231: 113210, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35051769
8.
Simvastatin inhibits POVPC-mediated induction of endothelial-to-mesenchymal cell transition.
J Lipid Res
; 62: 100066, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33711324
9.
TEA domain transcription factor 4 modulates repression of fetal haemoglobin by direct binding to the γ-globin gene promoters.
Br J Haematol
; 195(5): 764-769, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34569056
10.
MicroRNA-2355-5p regulates γ-globin expression in human erythroid cells by inhibiting KLF6.
Br J Haematol
; 193(2): 401-405, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33368182
11.
A Novel Hemoglobin Variant Hb Liaobu [α107(G14)ValâLeu, HBA2: c.322G>C] Detected by Matrix-Assisted Laser Desorption Ionization-Time-of-Flight Mass Spectrometry.
Hemoglobin
; 45(5): 341-344, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322741
12.
Circulating extracellular vesicles from patients with valvular heart disease induce neutrophil chemotaxis via FOXO3a and the inhibiting role of dexmedetomidine.
Am J Physiol Endocrinol Metab
; 319(1): E217-E231, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32516026
13.
Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α0-thalassemia by targeted next-generation sequencing.
Mol Genet Genomics
; 295(2): 505-514, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31897801
14.
Unusual survival of a twin with homozygous α0-thalassemia due to Chimerism.
Haematologica
; 106(5): 1507-1510, 2020 Oct 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33124788
15.
Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
Brain
; 142(8): 2215-2229, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31199454
16.
Two novel testis-specific long noncoding RNAs produced by 1700121C10Rik are dispensable for male fertility in mice.
J Reprod Dev
; 66(1): 57-65, 2020 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31801914
17.
[Clinical practice guidelines for alpha-thalassemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(3): 235-242, 2020 Mar 10.
Artigo
em Zh
| MEDLINE | ID: mdl-32128738
18.
[Clinical practice guidelines for beta-thalassemia].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(3): 243-251, 2020 Mar 10.
Artigo
em Zh
| MEDLINE | ID: mdl-32128739
19.
LOVD-DASH: A comprehensive LOVD database coupled with diagnosis and an at-risk assessment system for hemoglobinopathies.
Hum Mutat
; 40(12): 2221-2229, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31286593
20.
Thalassaemia intermedia caused by coinheritance of a ß-thalassaemia mutation and a de novo duplication of α-globin genes in the paternal allele.
Br J Haematol
; 186(4): 620-624, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31124576