Associated Papers
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
39859286 (PubMed )
Supplement: ijms-26-00570-s001.zip › Supplementary.pdf
The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.
Bazazzadegan N et al.
Hemoglobin, 2023
HBB Gene Mutations and Their Pathological Impacts on HbE/β-Thalassaemia in Kuala Terengganu, Malaysia.
Saad HKM et al.
Diagnostics (basel, Switzerland), 2023
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
The spectrum of beta-thalassemia mutations in the 22 Arab countries: a systematic review.
Khan AM et al.
Expert Review of Hematology, 2021
Hb S/β-Thalassemia in the REDS-III Brazil Sickle Cell Disease Cohort: Clinical, Laboratory and Molecular Characteristics.
Belisário AR et al.
Hemoglobin, 2020
Use of an automated pyrosequencing technique for confirmation of sickle cell disease.
de Martino CC et al.
Plos One, 2019
First description of the rs45496295 polymorphism of the C/EBPE gene in β-thalassemia intermedia patients.
Mejri A et al.
Hemoglobin, 2016
Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent β-Thalassemia Mutations in the Tunisian Population.
Ben Charfeddine I et al.
Hemoglobin, 2015
Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah.
Teh LK et al.
Journal of Human Genetics, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
25717368 (PubMed )
Supplement: f1000research-3-6038-s0000.tgz › e0d3facd-5877-477e-9217-8c5aa68746f2_Supplementary-Tables-11112014.zip › Supplementary-Tables-and-Figures-11112014 › Supplementary_Table_4._Deleterious_Natural_Site_Variantsv3.xlsx › Supplementary_Table_4
Xmn I polymorphism associated with concomitant activation of Gγ and Aγ globin gene transcription on a β0-thalassemia chromosome.
Haj Khelil A et al.
Blood Cells, Molecules & Diseases, 2011
Cryptic splicing sites are differentially utilized in vivo.
Haj Khelil A et al.
The Febs Journal, 2008
Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.
Vrettou C et al.
Human Mutation, 2004
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