Associated Papers
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
Hyperhaemolysis in a pregnant woman with a homozygous β0 -thalassemia mutation and two genetic modifiers.
Jiwu L et al.
Molecular Genetics & Genomic Medicine, 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 Understanding of Severe Cases of β-Thalassemia in the Nablus Region, West Bank, Palestine.
Samha L et al.
Hemoglobin, 2020
Effects of -3.7α Deletion and Sickle-Cell Trait on Ventilatory and Hemodynamic Responses to Maximum Exercise in Young Saudi Females.
Al Asoom LI et al.
Journal of Blood Medicine, 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
A novel mutation in the erythroid transcription factor KLF1 is likely responsible for ameliorating β-thalassemia major.
Fanis P et al.
Human Mutation, 2019
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
Assessing risk for Mendelian disorders in a Bronx population.
diSibio G et al.
Molecular Genetics & Genomic Medicine, 2017
New Insights on β-Thalassemia in the Palestinian Population of Gaza: High Frequency and Milder Phenotype Among Homozygous IVS-I-1 (HBB: c.92+1G>A) Patients with High Levels of Hb F.
Ghoti H et al.
Hemoglobin, 2017
The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran.
Jalilian M 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 of β- and α-Thalassemia Mutations in Non-Endemic Umbria, Central Italy.
Gorello P 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
The spectrum of β-thalassemia mutations in Gaza Strip, Palestine.
Sirdah MM et al.
Blood Cells, Molecules & Diseases, 2013
Efficient detection of Mediterranean β-thalassemia mutations by multiplex single-nucleotide primer extension.
Atanasovska B et al.
Plos One, 2012
Novel and known microsatellite markers within the β-globin cluster to support robust preimplantation genetic diagnosis of β-thalassemia and sickle cell syndromes.
Zachaki S et al.
Hemoglobin, 2011
Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1.
Papachatzopoulou A et al.
American Journal of Hematology, 2007
PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.
Klein C et al.
European Journal of Human Genetics : Ejhg, 2005
Borderline HbA2 levels: Dilemma in diagnosis of beta-thalassemia carriers.
Colaco S et al.
Mutation Research. Reviews in Mutation Research, 0