Associated Papers
The Clinical and Laboratory Profiles of a Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA--) [HBA2:c.*93_*94delAA]: The Malaysian Experience.
Yasin NM et al.
Diagnostics (basel, Switzerland), 2025
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 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
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
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
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
An analysis of the distribution and spectrum of alpha thalassemia mutations in Rasht City, North of Iran.
Asghari Ahmadabad M et al.
Frontiers in Pediatrics, 2023
A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction.
Bohn E et al.
Frontiers in Molecular Biosciences, 2023
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
Detection of hemoglobin H disease by long molecule sequencing.
Li Y et al.
Journal of Clinical Laboratory Analysis, 2022
α-Thalassemia Mutations in Ilam Province, West Iran.
Moradi K et al.
Hemoglobin, 2022
Molecular classification of blood and bleeding disorder genes.
Baz B et al.
Npj Genomic Medicine, 2021
A Novel β0-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (-TT)] in an Iraqi Kurd.
Atroshi SD et al.
Hemoglobin, 2021
Molecular Genetic Analysis of α-Thalassemia in Hamadan Province, West Iran.
Moradi K et al.
Hemoglobin, 2020
The Spectrum of α-Thalassemia Mutations in Kurdistan Province, West Iran.
Alibakhshi R et al.
Hemoglobin, 2020
Iranian patients with hemoglobin H disease: genotype-phenotype correlation.
Paridar M et al.
Molecular Biology Reports, 2019
NAA10 polyadenylation signal variants cause syndromic microphthalmia.
Johnston JJ et al.
Journal of Medical Genetics, 2019
Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.
de la Fuente-Gonzalo F et al.
Annals of Hematology, 2019
Evaluation of an immunochromatographic test for alpha thalassaemia screening in a multi-ethnic population.
Nelson AC et al.
International Journal of Laboratory Hematology, 2019
The Spectrum of α-Thalassemia Mutations in the Lak Population of Iran.
Moradi K et al.
Hemoglobin, 2019
First Report of Association Between Rare α-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C).
Ghadami E et al.
Indian Journal of Clinical Biochemistry : Ijcb, 2019
Evaluation of Thalassaemia Screening Tests in the Antenatal and Non-Antenatal Populations in Singapore.
Lee SY et al.
Annals of the Academy of Medicine, Singapore, 2019
Genetics of Iranian Alpha-Thalassemia Patients: A Comprehensive Original Study.
Keikhaei B et al.
Biochemical Genetics, 2018
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
Shang X et al.
Ebiomedicine, 2017
Hb H Disease Caused by Multiple Mutations in the Polyadenylation Signal Site and - -SEA/αα.
Zhang Q et al.
Hemoglobin, 2017
A Comprehensive Molecular Investigation of α-Thalassemia in an Iranian Cohort from Different Provinces of North Iran.
Eftekhari H et al.
Hemoglobin, 2017
Hb TAYBE: clinical and morphological findings IN 43 patients.
Koren A et al.
European Journal of Haematology, 2016
The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.
Kountouris P et al.
Scientific Reports, 2016
Development and validation of a high throughput, closed tube method for the determination of haemoglobin alpha gene (HBA1 and HBA2) numbers by gene ratio assay copy enumeration-PCR (GRACE-PCR).
Turner A et al.
Bmc Medical Genetics, 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
Characterization of Clinical and Laboratory Profiles of the Deletional α2-Globin Gene Polyadenylation Signal Sequence (AATAAA > AATA- -) in an Indian Population.
Deshpande P et al.
Hemoglobin, 2015
Molecular spectrum of α-globin gene defects in the Omani population.
Hassan SM et al.
Hemoglobin, 2014
Pitfalls in the genetic diagnosis of Hb S.
Moradkhani K et al.
Clinical Biochemistry, 2013
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
Utility of the multivariate approach in predicting β-thalassemia intermedia or β-thalassemia major types In Iranian patients.
Banan M et al.
Hemoglobin, 2013
Simultaneous detection of Hb constant spring (α142, TAA>CAA, α2) and the α2 IVS-I donor site (-TGAGG) deletion by a simple polymerase chain reaction-based method in Iran.
Akhavan-Niaki H 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
[Gene diagnosis and carrier detection of hemophilia B by using genomic amplification with transcripts sequencing].
Liu J et al.
Zhonghua Yi Xue Za Zhi, 1995