Associated Papers
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare 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
mRNA-specific readthrough of nonsense codons by antisense oligonucleotides (R-ASOs).
Susorov D et al.
Nucleic Acids Research, 2024
Transcript-specific induction of stop codon readthrough using a CRISPR-dCas13 system.
Manjunath LE et al.
Embo Reports, 2024
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
Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal.
Santos D et al.
Acta Medica Portuguesa, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
The hemoglobinopathies, molecular disease mechanisms and diagnostics.
Harteveld CL et al.
International Journal of Laboratory Hematology, 2022
Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.
Dissanayake R et al.
Bmc Pediatrics, 2022
Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene.
Hamid M et al.
Archives of Iranian Medicine, 2022
Hb F Levels in β-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the β-Globin Gene Cluster.
Manco L et al.
Hemoglobin, 2022
Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam.
Xinh PT et al.
Molecular Biology Reports, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.
Farra C et al.
Hemoglobin, 2021
Prenatal Screening and Diagnosis of ß-Thalassemia in India: Is ARMS-PCR Enough?
Ghosh S et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2021
The Effect of HBB: c.-121C>T Variant [-71 (C>T)] on the β-Globin Promoter: Case Series Study.
Rafat M 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
CRISPR-mediated gene modification of hematopoietic stem cells with beta-thalassemia IVS-1-110 mutation.
Gabr H et al.
Stem Cell Research & Therapy, 2020
Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations.
Aliyeva G et al.
Annals of Human Genetics, 2020
Multi-Locus Models to Address Hb F Variability in Portuguese β-Thalassemia Carriers.
Manco L et al.
Hemoglobin, 2020
Molecular Characterization and Disease-Related Morbidities of β-Thalassemia Patients from the Northeastern Part of Iraq.
Amin S et al.
International Journal of General Medicine, 2020
Adult-onset beta-thalassaemia intermedia caused by a 5-Mb somatic clonal segmental deletion in haemopoietic stem cells involving the β-globin locus.
Traeger-Synodinos J et al.
British Journal of Haematology, 2019
The Spectrum of β-Thalassemia Mutations in Siirt Province, Southeastern Turkey.
Yılmaz S
Hemoglobin, 2019
The Spectrum of β-Thalassemia Mutations in Hamadan Province, West Iran.
Alibakhshi R et al.
Hemoglobin, 2019
Frequency of α-Globin Gene Triplications and Coinheritance with β-Globin Gene Mutations in the Iranian Population.
Abedini SS et al.
Hemoglobin, 2018
Prevalence of β-Thalassemia Mutations among Northeastern Iranian Population and their Impacts on Hematological Indices and Application of Prenatal Diagnosis, a Seven-Years Study.
Jaripour ME et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2018
Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil.
Carrocini GCS et al.
Hemoglobin, 2017
Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach.
Shah PS et al.
The Application of Clinical Genetics, 2017
Polymorphic variations influencing fetal hemoglobin levels: association study in beta-thalassemia carriers and in normal individuals of Portuguese origin.
Pereira C et al.
Blood Cells, Molecules & Diseases, 2015
Molecular basis of β-thalassemia in Karnataka, India.
Kulkarni GD et al.
Genetic Testing and Molecular Biomarkers, 2012
A novel homozygous point mutation at codon 82 (HBB:c.247A > T) in the beta-globin gene leads to thalassemia major.
Angalena R et al.
International Journal of Laboratory Hematology, 2010
Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.
Chan OT et al.
American Journal of Clinical Pathology, 2010
A novel beta-globin mutation (HBB:c.107A>G; or codon 35 beta (A-->G)) at alpha-beta chain interfaces.
Kumar R et al.
Annals of Hematology, 2009