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
Somatic mitochondrial DNA mutations are a source of heterogeneity among primary leukemic cells.
McCastlain K et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
[Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations].
Wang QH et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2024
Additional value of red blood cell parameters in predicting uncommon α-thalassemia; experience from 10 years of α-globin gene sequencing and copy number variation analysis.
Fjeld B et al.
International Journal of Laboratory Hematology, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Clinical and genetic characteristics of hemoglobin H disease in Iran.
Abolghasemi H et al.
Pediatric Hematology and Oncology, 2022
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
Luo S et al.
Journal of Human Genetics, 2022
Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
Luo S et al.
Journal of Human Genetics, 2022
A Novel β0-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (-TT)] in an Iraqi Kurd.
Atroshi SD et al.
Hemoglobin, 2021
Microcytic Anaemia as Susceptibility Factors in Bipolar Spectrum Disorders: Review of the Literature, Replication Survey, and Co-Segregation within Families.
Bocchetta A et al.
Clinical Practice and Epidemiology in Mental Health : Cp & Emh, 2021
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
Iranian patients with hemoglobin H disease: genotype-phenotype correlation.
Paridar M et al.
Molecular Biology Reports, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
KLF1 gene and borderline hemoglobin A2 in Saudi population.
Borgio JF et al.
Archives of Medical Science : Ams, 2018
The Molecular Spectrum of β- and α-Thalassemia Mutations in Non-Endemic Umbria, Central Italy.
Gorello P et al.
Hemoglobin, 2016
Novel Mutation of the Translation Initiation Codon of the α1-Globin Gene (ATG>AAG or HBA1:c.2T>A).
Waye JS et al.
Hemoglobin, 2016
Evaluation of α-Globin Gene Mutations Among Different Ethnic Groups in Khuzestan Province, Southwest Iran.
Khosravi A et al.
Hemoglobin, 2016
Diagnostic pitfalls of less well recognized HbH disease.
Farashi S et al.
Blood Cells, Molecules & Diseases, 2015
Multi-allele DNA biosensor for the rapid genotyping of 'nondeletion' alpha thalassaemia mutations in HBA1 and HBA2 genes by means of multiplex primer extension reaction.
Petropoulou M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Clinical presentation and molecular identification of four uncommon alpha globin variants in Thailand. Initiation codon mutation of α2-globin Gene (HBA2:c.1delA), donor splice site mutation of α1-globin gene (IVSI-1, HBA1:c.95 + 1G>A), hemoglobin Queens Park/Chao Pra Ya (HBA1:c.98T>A) and hemoglobin Westmead (HBA2:c.369C>G).
Viprakasit V et al.
Acta Haematologica, 2014
The spectrum of α-thalassemia mutations in the Kurdish population of Northeastern Iraq.
Al-Allawi NA et al.
Hemoglobin, 2013
Novel mutations responsible for α-thalassemia in Iranian families.
Bayat N et al.
Hemoglobin, 2013
First detection of Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] in an Italian child.
Paglietti ME et al.
Hemoglobin, 2012
Sickle cell disease in the Kurdish population of northern Iraq.
Al-Allawi NA et al.
Hemoglobin, 2012
Genotype-phenotype correlation in Iranian patients with Hb H disease.
Ebrahimkhani S et al.
Hemoglobin, 2011
Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia.
Giambona A et al.
Haematologica, 2008
Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE.
Lacerra G et al.
Human Mutation, 2004