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
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
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.
Wan Y et al.
Journal of Clinical Laboratory Analysis, 2024
An intronic RNA element modulates Factor VIII exon-16 splicing.
Tse V et al.
Nucleic Acids Research, 2024
β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].
Waye JS et al.
Hemoglobin, 2024
Application of real-time PCR-based multicolor melting curve with automatic analysis system in pregestational and prenatal thalassemia diagnoses.
Tang XW et al.
Annals of Human Genetics, 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
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene.
Hamid M et al.
Archives of Iranian Medicine, 2022
Plasma proteome profiling combined with clinical and genetic features reveals the pathophysiological characteristics of β-thalassemia.
Li N et al.
Iscience, 2022
Rare Pathogenic β0-Thalassemia Mutation, Codon 7 (GAG>TAG) (HBB: c.22G>T). Report of the First Two Cases in Albanian Immigrants of Northern Greece.
Zarkada E et al.
Hemoglobin, 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
Using DNA testing for the precise, definite, and low-cost diagnosis of sickle cell disease and other Haemoglobinopathies: findings from Tanzania.
Christopher H et al.
Bmc Genomics, 2021
First Report of β-Thalassemia Intermedia in a Patient Compound Heterozygous for -92 (C>T) and Codons 36/37 (-T) Mutations.
Aliyeva G et al.
Hemoglobin, 2021
The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.
Farra C et al.
Hemoglobin, 2021
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 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
Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations.
Aliyeva G et al.
Annals of Human Genetics, 2020
Molecular Understanding of Severe Cases of β-Thalassemia in the Nablus Region, West Bank, Palestine.
Samha L et al.
Hemoglobin, 2020
Genotype/Phenotype Correlation of β-Thalassemia in Syrian Patients: A Cross-Sectional Study.
Shoujaa A et al.
Hemoglobin, 2020
The Spectrum of β-Thalassemia Mutations in Siirt Province, Southeastern Turkey.
Yılmaz S
Hemoglobin, 2019
Molecular characterization of β-thalassemia intermedia in the West Bank, Palestine.
Faraon R et al.
Bmc Hematology, 2019
Geographical distribution of β-globin gene mutations in Syria.
Murad H et al.
Hematology (amsterdam, Netherlands), 2018
Molecular characterization of α- and β-thalassemia in the Yulin region of Southern China.
He S et al.
Gene, 2018
Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil.
Carrocini GCS et al.
Hemoglobin, 2017
The Molecular Spectrum of β- and α-Thalassemia Mutations in Non-Endemic Umbria, Central Italy.
Gorello P 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
Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.
Divoka M et al.
Hemoglobin, 2016
Detection of functional polymorphisms influencing the promoter activity of the SAA2 gene and their association with milk production traits in Chinese Holstein cows.
Yang S et al.
Animal Genetics, 2015
Prevalence and molecular characterization of β-thalassemia in the state of Bahia, Brazil: first identification of mutation HBB: c.135delC in Brazil.
Fonseca SF et al.
Hemoglobin, 2013
Molecular study and genotype/phenotype correlation of β Thalassemia in Malaysia.
Sivalingam M et al.
International Journal of Laboratory Hematology, 2012
Molecular analysis of β-thalassemia patients: first identification of mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil.
Fernandes AC et al.
Hemoglobin, 2011
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
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
Pre Gestational Thalassemia Screening in Mainland China: The First Two Years of a Preventive Program.
Jiang F et al.
Hemoglobin, 0
Genetic Background of β-Thalassemia in Northeast Algeria with Assessment of the Thalassemia Severity Score and Description of a new β0-Thalassemia Frameshift Mutation (HBB: c.374dup; p.Pro126Thrfs*15).
Abdaoui W et al.
Hemoglobin, 0