Associated Papers
Case report and characterization of a Brazilian family with a rare hemoglobin variant-Hb Maputo.
Santos EA et al.
Hematology, Transfusion and Cell Therapy, 2024
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.
Mitchell CW et al.
The Journal of Biological Chemistry, 2022
35863433 (PubMed )
Supplement: mmc4.xlsx › -2_position
Genetics background of β-thalassemia (3.5 kb deletion) in Southern Thailand: Haplotype analysis using novel reverse dot blot hybridization.
Tepakhan W et al.
Annals of Human Genetics, 2021
First Report of Compound Heterozygosity for Hb S (HBB: c.20A>T) and Hb Haringey (HBB: c.131A>G).
Ogu UO et al.
Hemoglobin, 2021
Association of Hb A2 Variants with Several Forms of α- and β-Thalassemia in Thailand.
Panyasai S et al.
Hemoglobin, 2020
Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.
Nishimura T et al.
Frontiers in Oncology, 2020
32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ017
Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China.
Zhang J et al.
Scientific Reports, 2019
Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China.
Zhang J et al.
Bmj Open, 2017
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.
Riou J et al.
International Journal of Laboratory Hematology, 2015
Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China.
Zhang J et al.
Plos One, 2015
Identification of three new nucleotide substitutions in the β-globin gene: laboratoristic approach and impact on genetic counselling for beta-thalassaemia.
Vinciguerra M et al.
European Journal of Haematology, 2014
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