Detalhe da pesquisa
1.
Epigenetic inactivation of ERF reactivates γ-globin expression in ß-thalassemia.
Am J Hum Genet
; 108(4): 709-721, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33735615
2.
A Genetic Variant Ameliorates ß-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression.
Am J Hum Genet
; 101(1): 130-138, 2017 Jul 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28669403
3.
The prevalence and molecular characterization of (뫧)0 -thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population.
J Clin Lab Anal
; 32(3)2018 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28763119
4.
First Identification of the 3.5 kb Deletion (NC_000011.10: g.5224302-5227791del3490bp) on the ß-Globin Gene Cluster in a Chinese Family.
Hemoglobin
; 42(4): 272-275, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612499
5.
Characterization of Hb Bart's Hydrops Fetalis Caused by - -SEA and a Large Novel α0-Thalassemia Deletion.
Hemoglobin
; 42(1): 61-64, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29493331
6.
Characterization of a Large Novel α-Globin Gene Cluster Deletion Causing α0-Thalassemia in a Chinese Family.
Hemoglobin
; 41(4-6): 297-299, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29161910
7.
Activation of γ-globin expression by LncRNA-mediated ERF promoter hypermethylation in ß-thalassemia.
Clin Epigenetics
; 16(1): 12, 2024 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-38218889
8.
Reference intervals for erythrocyte parameters and hemoglobin electrophoresis parameters for young children in Guangxi.
Int J Lab Hematol
; 45(1): 104-111, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36064301
9.
Common genetic polymorphisms at three loci affect HbF levels in ß-thalassemia patients from Southern China.
Blood Cells Mol Dis
; 62: 22-23, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27835778
10.
Molecular Characterization of α- and ß-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China.
Front Pediatr
; 9: 724196, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34497785
11.
DNA methylation patterns of ß-globin cluster in ß-thalassemia patients.
Clin Epigenetics
; 12(1): 187, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33272312
12.
A novel splicing mutation in F8 causes various aberrant transcripts in a hemophilia A patient and identifies a new transcript from healthy individuals.
Blood Coagul Fibrinolysis
; 31(8): 506-510, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32852327
13.
A novel missense mutation in F9 gene causes hemophilia B in a family with clinical variability.
Blood Coagul Fibrinolysis
; 31(2): 121-126, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31904612
14.
A novel 223 kb deletion in the beta-globin gene cluster was identified in a Chinese thalassemia major patient.
Int J Lab Hematol
; 41(4): 456-460, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30945812
15.
A novel variant of osteogenesis imperfecta type IV and low serum phosphorus level caused by a Val94Asp mutation in COL1A1.
Mol Med Rep
; 17(3): 4433-4439, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29344653