Associated Papers
Novel LRF/ZBTB7A variants and known HbF-modulating SNPs in transfusion-dependent β-thalassemia.
Arikan Y et al.
Bmc Medical Genomics, 2025
Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey.
Kocak Eker H et al.
Molecular Syndromology, 2024
Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.
Stephanou C et al.
Biomedicines, 2024
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
Accuracy of Reverse Dot-Blot PCR in Detection of Different β-Globin Gene Mutations.
El-Fadaly N et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2016
Development of a High-Resolution Melting Approach for Scanning Beta Globin Gene Point Mutations in the Greek and Other Mediterranean Populations.
Chassanidis C et al.
Plos One, 2016
Novel Βeta (β)-Thalassemia Mutation in Turkish Children.
Ulasli M et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2015
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Lazarin GA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas.
Pissard S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Beta-globin Gene Mutations in Turkish Children with Beta-Thalassemia: Results from a Single Center Study.
Fettah A et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2013
Detection of regulatory SNPs in human genome using ChIP-seq ENCODE data.
Bryzgalov LO et al.
Plos One, 2013
TATA box polymorphisms in human gene promoters and associated hereditary pathologies.
Savinkova LK et al.
Biochemistry. Biokhimiia, 2009
Quantitative assessment of the transcriptional impact of mutations in the 3'untranslated region of the human beta-globin gene: application to the +1480 C-->G mutation.
Irenge LM et al.
Haematologica, 2006
Validation of a recombinant DNA construct (micro LCR and full-length beta-globin gene) for quantification of human beta-globin expression: application to mutations in the promoter, intronic, and 5'- and 3'-untranslated regions of the human beta-globin gene.
Irenge LM et al.
Clinical Chemistry, 2002
The beta+-IVS-I-6 (T-->C) mutation accounts for half of the thalassemia chromosomes in the Palestinian populations of the mountain regions.
El-Latif MA et al.
Hemoglobin, 2002
Molecular characterization of beta-thalassemia in Syria.
Kyriacou K et al.
Hemoglobin, 2000
Frequency of positive XmnIGgamma polymorphism and coinheritance of common alpha thalassemia mutations do not show statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation.
Neishabury M et al.
Blood Cells, Molecules & Diseases, 0