Associated Papers
The 1357 bp deletion in β-thalassemia: molecular profiling and hematological characterization in a Guangxi cohort.
Li Y et al.
Molecular Biology Reports, 2025
Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France.
Baltus C et al.
Blood Cells, Molecules & Diseases, 2025
Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.
Byrou S et al.
International Journal of Molecular Sciences, 2025
Active spread of β-thalassemia beyond the thalassemia belt: A study on a Russian population.
Shchemeleva E et al.
Clinical Genetics, 2025
Complete molecular spectrum of β-globin gene mutations via direct sequencing identifies seven novel variants in β-thalassemia major.
Sadoon TA et al.
Plos One, 2025
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
Spectrum of β-Thalassemia Mutations in Some Areas of Guangxi Zhuang Autonomous Region of Southern China: A Study on a Pediatric Population Aged 0-15 Years.
Huang LF et al.
Hemoglobin, 2021
The spectrum of beta-thalassemia mutations in the 22 Arab countries: a systematic review.
Khan AM et al.
Expert Review of Hematology, 2021
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations.
Aliyeva G et al.
Annals of Human Genetics, 2020
Genetic Regulation of Redox Balance in β-Thalassemia Trait.
Terán MM et al.
Hemoglobin, 2020
Anemia Severity in β-Thalassemia Correlates with Elevated Levels of microRNA-125b in Activated Phagocytic Monocytes.
Kuno S et al.
Hemoglobin, 2019
The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.
Nadkarni AH et al.
International Journal of Laboratory Hematology, 2019
Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2].
Gueye Tall F et al.
Hemoglobin, 2017
Mutation screening for thalassaemia in the Jino ethnic minority population of Yunnan Province, Southwest China.
Wang S et al.
Bmj Open, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Prenatal and newborn screening for hemoglobinopathies.
Hoppe CC
International Journal of Laboratory Hematology, 2013
Molecular basis of β-thalassemia in Karnataka, India.
Kulkarni GD et al.
Genetic Testing and Molecular Biomarkers, 2012
Using 5'-PTMs to repair mutant beta-globin transcripts.
Kierlin-Duncan MN et al.
Rna (new York, N.y.), 2007
Molecular genetic analyses of beta-thalassemia in South India reveals rare mutations in the beta-globin gene.
Bashyam MD et al.
Journal of Human Genetics, 2004