Associated Papers
Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France.
Baltus C et al.
Blood Cells, Molecules & Diseases, 2025
Phenotypic Variability and Hematological Characterization of β0- and β+-Thalassemia Carriers: A Comparative Study.
Tibi AA et al.
Journal of Clinical Medicine Research, 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
Prevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program.
Hassan MK et al.
Hemoglobin, 2025
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.
Selvatici R et al.
Genes, 2024
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Prevalence and Molecular Characterization of β-Thalassemia in Kirkuk Province of Northern Iraq.
Abbas RA et al.
Hemoglobin, 2024
Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.
Mousavi SS et al.
Biomed Research International, 2024
The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.
Bazazzadegan N et al.
Hemoglobin, 2023
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
Determining the current prevalence of β-thalassemia variants in Jordan.
Hasan D et al.
Archives of Medical Science : Ams, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Heterozygosity of the Complex Corfu δ0β+ Thalassemic Allele (HBD Deletion and HBB:c.92+5G>A) Revisited
Kattamis C et al.
Biology, 2022
Noninvasive Prenatal Test for β-Thalassemia and Sickle Cell Disease Using Probe Capture Enrichment and Next-Generation Sequencing of DNA in Maternal Plasma.
Erlich HA et al.
The Journal of Applied Laboratory Medicine, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.
Kuchenbaecker K et al.
Scientific Reports, 2022
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.
Farra C et al.
Hemoglobin, 2021
Updated Molecular Spectrum of β-Thalassemia Mutations in Duhok Province, Northern Iraq: Ethnic Variation and the Impact of Immigration.
Atroshi SD et al.
Hemoglobin, 2021
Presentation of two new mutations in the 3'untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey.
Arpaci A et al.
Annals 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
CRISPR-mediated gene modification of hematopoietic stem cells with beta-thalassemia IVS-1-110 mutation.
Gabr H et al.
Stem Cell Research & Therapy, 2020
Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies.
Mehta P et al.
International Journal of Laboratory Hematology, 2020
Two Rare Pathogenic HBB Variants in a Patient with β-Thalassemia Intermedia
Hançer VS et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2020
Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations.
Aliyeva G et al.
Annals of Human Genetics, 2020
Genotype/Phenotype Correlation of β-Thalassemia in Syrian Patients: A Cross-Sectional Study.
Shoujaa A et al.
Hemoglobin, 2020
HV2 fragment mutations in β-thalassemia patients and a new base pair insertion of high-altitude cases.
Al Thwiby NM et al.
American Journal of Blood Research, 2020
The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.
Patsali P et al.
Journal of Clinical Medicine, 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
Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.
Faraon R et al.
Bmc Hematology, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
Geographical distribution of β-globin gene mutations in Syria.
Murad H et al.
Hematology (amsterdam, Netherlands), 2018
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
First description of the rs45496295 polymorphism of the C/EBPE gene in β-thalassemia intermedia patients.
Mejri A et al.
Hemoglobin, 2016
β-Thalassemia gene mutations in Antalya, Turkey: results from a single centre study.
Kurtoğlu A et al.
Hemoglobin, 2016
Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).
Turner A et al.
Bmc Medical Genetics, 2016
Hb A1c Determination by Capillary Electrophoresis is an Efficient Method for Detecting β-Thalassemias and Hemoglobin Variants.
Orts JA et al.
Hemoglobin, 2016
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
Kountouris P et al.
Scientific Reports, 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
Genome-wide discovery of human splicing branchpoints.
Mercer TR et al.
Genome Research, 2015
β-Globin Mutations in Egyptian Patients With β-Thalassemia.
Elmezayen AD et al.
Laboratory Medicine, 2015
Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation.
Ozkinay F et al.
Hemoglobin, 2015
The spectrum of β-thalassemia mutations in Hatay, Turkey: reporting three new mutations.
Aldemir O et al.
Hemoglobin, 2014
Mild β(+)-thalassemia associated with two linked sequence variants: IVS-II-839 (T>C) and IVS-II-844 (C>A).
Waye JS et al.
Hemoglobin, 2013