Associated Papers
Carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco: Implications for blood donation and genetic diagnosis.
Belmokhtar I et al.
Clinical Biochemistry, 2025
The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, China.
Gui C et al.
Frontiers in Genetics, 2025
Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.
Yang WJ et al.
Frontiers in Immunology, 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
Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey.
Kocak Eker H et al.
Molecular Syndromology, 2024
Reanalysis of Trio Whole-Genome Sequencing Data Doubles the Yield in Autism Spectrum Disorder: De Novo Variants Present in Half.
Bar O et al.
International Journal of Molecular Sciences, 2024
Molecular Detection of Hemoglobin O-Arab in the Sudanese Population.
Elbashir I et al.
International Journal of General Medicine, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Use of Capillary Electrophoresis Migration Position for the Presumptive Identification of Hemoglobin Variants Prevalent in China.
Xu M et al.
Hemoglobin, 2022
Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations.
Kuchenbaecker K et al.
Scientific Reports, 2022
Analysis of a Novel Mexican Variant of the HBB Gene Associated with β-Thalassemia Using Bioinformatic Tools.
Martínez Villegas O et al.
Hemoglobin, 2021
First Report of Compound Heterozygosity for Hb S (HBB: c.20A>T) and Hb Haringey (HBB: c.131A>G).
Ogu UO et al.
Hemoglobin, 2021
Evaluation of the High Resolution Melting Approach for Detection of β-Thalassemia Gene Mutations.
Tariq A et al.
Hemoglobin, 2021
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Hb S (HBB: c.20A>T) and α- and β-Thalassemia Coinheritance in Iranian Patients.
Azarkeivan A 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
An Unusual Compound Heterozygosity for Hb O-Arab (HBB: c.364G>A) and Hb D-Los Angeles (HBB: c.364G>C).
van Gammeren AJ et al.
Hemoglobin, 2020
Comprehensive analysis of mitochondrial and nuclear DNA variations in patients affected by hemoglobinopathies: A pilot study.
Barbanera Y et al.
Plos One, 2020
The Sub-Phenotypes of Sickle Cell Disease in Kuwait.
Adekile AD et al.
Hemoglobin, 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
Factor V Leiden G1691A, Prothrombin G20210A, and MTHFR C677T and A1298C Mutations in Patients With Sickle Cell Disease in Tunisia.
Belhaj Nefissi R et al.
Hemoglobin, 2018
C-Window Peaks on CE-HPLC are Extremely Rare in Northern India, and Only Infrequently Represent HbC.
Dass J et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2018
Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2].
Gueye Tall F 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
Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.
Canatan D et al.
Hemoglobin, 2016
Hemoglobinopathies in the Çukurova Region and Neighboring Provinces.
Yuzbasioglu Ariyurek S et al.
Hemoglobin, 2016
Hb Agenogi [β90(F6)Glu→Lys (GAG>AAG) HBB: c.271G>A)] in a Pregnant Thai Woman.
Panyasai S et al.
Hemoglobin, 2016
PaPI: pseudo amino acid composition to score human protein-coding variants.
Limongelli I et al.
Bmc Bioinformatics, 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
Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.
Hassan SM et al.
Hemoglobin, 2015
Hb Lansing (HBA2: c.264C > G) and a new β promoter transversion [-52 (G > T)]: an attempt to define the phenotype of two mutations found in the Omani population.
Hassan SM et al.
Hemoglobin, 2015
The Prevalence of Hemoglobinopathies in Young Adolescents in the Province of Muğla in Turkey: Results of a Screening Program.
Topal Y et al.
Hemoglobin, 2015
Repository of mutations from Oman: The entry point to a national mutation database.
Rajab A et al.
F1000research, 2015
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Genetic characterization of Greek population isolates reveals strong genetic drift at missense and trait-associated variants.
Panoutsopoulou K et al.
Nature Communications, 2014
Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology.
Hassan SM et al.
Blood Cells, Molecules & Diseases, 2014
Description of the phenotypes of 63 heterozygous, homozygous and compound heterozygous patients carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] variant.
Joly P et al.
Hemoglobin, 2014
HPLC-ESI-MS/MS analysis of hemoglobin peptides in tryptic digests of dried-blood spot extracts detects HbS, HbC, HbD, HbE, HbO-Arab, and HbG-Philadelphia mutations.
Haynes CA et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.
Alvarez-Dominguez JR et al.
The Journal of Biological Chemistry, 2013
Hemoglobinopathy carrier prevalence in the United Arab Emirates: first analysis of the Dubai Health Authority premarital screening program results.
Belhoul KM et al.
Hemoglobin, 2013
Hb S-São Paulo: a new sickling hemoglobin with stable polymers and decreased oxygen affinity.
Jorge SE et al.
Archives of Biochemistry and Biophysics, 2012
Universal Screening Program in Pregnant Women and Newborns at-Risk for Sickle Cell Disease: First Report from Northern Italy.
Lodi M et al.
Hemoglobin, 0