Associated Papers
Difficult Cases in the Diagnosis of Thalassemia Syndromes.
Canatan D et al.
Hemoglobin, 2026
Molecular and structural characterization of a novel β-hemoglobinopathy caused by in Cis β-globin mutations in a Thai individual.
Singha K et al.
Scientific Reports, 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
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
Comprehensive Genomic Profiling Alters Clinical Diagnoses in a Significant Fraction of Tumors Suspicious of Sarcoma.
Öfverholm I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024
Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.
Ozalp O et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia.
Stephanou C et al.
Biomedicines, 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
Epidemiological Survey of Hemoglobinopathies Based on Next-Generation Sequencing Platform in Hunan Province, China.
Xi H et al.
Biomedical and Environmental Sciences : Bes, 2023
In silico analysis of substitution mutations in the β-globin gene in Turkish population of β-thalassemia.
Alkilani S et al.
Journal of Biomolecular Structure & Dynamics, 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
The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.
Farra C et al.
Hemoglobin, 2021
Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations.
Kasmi C et al.
Molecular Biology Reports, 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
The Spectrum of Beta-Thalassemia Mutations in Syrian Refugees and Turkish Citizens.
Gunes AK et al.
Cureus, 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
Molecular Understanding of Severe Cases of β-Thalassemia in the Nablus Region, West Bank, Palestine.
Samha L et al.
Hemoglobin, 2020
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
The Spectrum of β-Thalassemia Mutations in Siirt Province, Southeastern Turkey.
Yılmaz S
Hemoglobin, 2019
Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia.
Moassas F et al.
Bmc Pediatrics, 2019
Efficacy of the National Thalassaemia and Sickle Cell Disease Prevention Programme in Northern Greece: 15-Year Experience, Practice and Policy Gaps for Natives and Migrants.
Theodoridou S et al.
Hemoglobin, 2018
A Clinical Update of the Hb Siirt [β27(B9)Ala→Gly; HBB: c.83C>G] Hemoglobin Variant.
Cappabianca MP et al.
Hemoglobin, 2017
β-Thalassemia gene mutations in Antalya, Turkey: results from a single centre study.
Kurtoğlu A 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
Diverse hematological phenotypes of β-thalassemia carriers.
Luo HY et al.
Annals of the New York Academy of Sciences, 2016
Phenotypic evaluations of -223 T>C (HBB:c.-223T>C) nucleotide substitution in the promoter region of β-globin gene.
Giambona A et al.
Blood Cells, Molecules & Diseases, 2015
Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.
Riou J et al.
International Journal of Laboratory Hematology, 2015
β-Globin Mutations in Egyptian Patients With β-Thalassemia.
Elmezayen AD et al.
Laboratory Medicine, 2015
Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan.
Shamoon RP et al.
Hemoglobin, 2015
Identification of a Rare β(0)-Thalassemia Mutation, Codon 54 (-T) (HBB: c.165delT) in an Iranian Family.
Ghasemian Dastjerdy N et al.
Hemoglobin, 2015
Hb Knossos: HBB:c.82G>T Associated with HBB:c.315+1G>A Beta Zero Mutation Causes Thalassemia Intermedia.
Nasouhipur H et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
The spectrum of β-thalassemia mutations in Hatay, Turkey: reporting three new mutations.
Aldemir O et al.
Hemoglobin, 2014
Prenatal and newborn screening for hemoglobinopathies.
Hoppe CC
International Journal of Laboratory Hematology, 2013
Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.
Phylipsen M et al.
International Journal of Laboratory Hematology, 2011
A review of abnormal hemoglobins in Turkey.
Akar E et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2007
Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.
De Angioletti M et al.
Human Mutation, 2002