Associated Papers
Genotype-Phenotype Correlation of Seven Known and Novel β-Globin Gene Variants.
Singha K et al.
International Journal of Molecular Sciences, 2025
ClinGen Variant Curation Interface Workshops: Training Variant Scientists on an International Platform.
Ritter DI et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Two Variants of the ANK1 Gene Associated with Hereditary Spherocytosis.
Bogusławska DM et al.
Biomedicines, 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
The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion.
Chetta M et al.
The Application of Clinical Genetics, 2025
Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients.
Ejaz S et al.
Scientific Reports, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Evidence of new intragenic HBB haplotypes model for the prediction of beta-thalassemia in the Malaysian population.
Aziz NA et al.
Scientific Reports, 2021
Analysis of a Novel Mexican Variant of the HBB Gene Associated with β-Thalassemia Using Bioinformatic Tools.
Martínez Villegas O et al.
Hemoglobin, 2021
Distribution of HBB Gene Mutations in the Kurdish Population of Ilam Province, West Iran.
Moradi K et al.
Hemoglobin, 2020
Identification of seven novel variants in the β-globin gene in transfusion-dependent and normal patients.
Aldakeel SA et al.
Archives of Medical Science : Ams, 2020
Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations.
Vucak J et al.
Journal of Pediatric Hematology/oncology, 2018
Study on the Role of Polymorphisms of the SOX-6 and MYB Genes and Fetal Hemoglobin Levels in Sicilian Patients with β-Thalassemia and Sickle Cell Disease.
Listì F et al.
Hemoglobin, 2018
KLF1 gene and borderline hemoglobin A2 in Saudi population.
Borgio JF et al.
Archives of Medical Science : Ams, 2018
The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran.
Jalilian M et al.
Hemoglobin, 2017
Mutations in the β-globin gene from a Saudi population: an update.
Borgio JF et al.
International Journal of Laboratory Hematology, 2016
Embryo genome profiling by single-cell sequencing for preimplantation genetic diagnosis in a β-thalassemia family.
Xu Y et al.
Clinical Chemistry, 2015
β-Thalassemia mutations in Western India: outcome of prenatal diagnosis in a hemoglobinopathies project.
Patel AP et al.
Hemoglobin, 2014
The spectrum of β-thalassemia mutations in Gaza Strip, Palestine.
Sirdah MM et al.
Blood Cells, Molecules & Diseases, 2013
High-resolution melting: applications in genetic disorders.
Er TK et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Molecular basis of β-thalassemia in Karnataka, India.
Kulkarni GD et al.
Genetic Testing and Molecular Biomarkers, 2012
The association between intragenic SNP haplotypes and mutations of the beta globin gene in a Turkish population.
Bilgen T et al.
Blood Cells, Molecules & Diseases, 2011
Rapid identification of HBB gene mutations by high-resolution melting analysis.
Shih HC et al.
Clinical Biochemistry, 2009