Associated Papers
High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.
Zhang J et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026
Cost-effective and flexible preimplantation genetic testing (PGT) by nanopore adaptive sampling.
Zhang Z et al.
Journal of Nanobiotechnology, 2025
Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study.
Qin D et al.
Annals of Medicine, 2025
Molecular identification and phenotypic study of a novel HBB: c.-23A>G mutation in the 5' untranslated region.
Shen S et al.
Frontiers in Medicine, 2025
SNPscan Combined With CNVplex as a High-Performance Diagnostic Method for Thalassemia.
Wei X et al.
Prenatal Diagnosis, 2024
Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.
Wan Y et al.
Journal of Clinical Laboratory Analysis, 2024
Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.
Stephanou C et al.
Biomedicines, 2024
Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity.
Abbasali FH et al.
Balkan Journal of Medical Genetics : Bjmg, 2023
Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.
Xi H et al.
Biomedical and Environmental Sciences : Bes, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.
Patsali P et al.
Journal of Clinical Medicine, 2019
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Coheredity of a new silent mutation: c.-29G>T, with a severe β-thal mutation in a patient with β-thalassemia intermediate.
Vinciguerra M et al.
International Journal of Laboratory Hematology, 2018
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
The spectrum of β-thalassemia mutations in Gaza Strip, Palestine.
Sirdah MM et al.
Blood Cells, Molecules & Diseases, 2013
A +8 (-->CT) mutation within the 5' untranslated region of beta-globin down-regulates the mRNA transcription.
Van de Water N et al.
Hemoglobin, 2008