Associated Papers
Hb A2-Getafe [δ 132 (H10) Lys > Thr, HBD: c.88C > A]: New Mutation in the δ-Globin Gene in a Spanish Patient.
Torrado Carrión RA et al.
Hemoglobin, 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
Expanding families: a pilot study on preconception expanded carrier screening in Bahrain.
Skrypnyk C et al.
Bmc Pregnancy and Childbirth, 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
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants.
Xu A et al.
International Journal of Laboratory Hematology, 2023
Blood ACE Phenotyping for Personalized Medicine: Revelation of Patients with Conformationally Altered ACE.
Danilov SM et al.
Biomedicines, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
A New Mutation, Hb A2-Canakkale [δ10(A7)Ala→Val; HBD: c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A2 Levels.
Karakaya T et al.
Hemoglobin, 2022
Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.
Arnadottir GA et al.
Nature Communications, 2022
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Khayat M et al.
Clinical Genetics, 2021
Missed Diagnosis of β-Thalassemia Trait in Premarital Screening Due to Accompanying HbA2-Yialousa (HBD: c.82G>T).
Yilmaz Keskin E et al.
Journal of Pediatric Hematology/oncology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
δ-Globin Chain Variants Associated with Decreased Hb A2 Levels: A National Reference Laboratory Experience.
Rets AV et al.
Hemoglobin, 2020
Hb A2-Pistoia [δ89(F5)Ser→Asn, HBD: c.269G>a]: a Novel Mutation on the δ-Globin Gene in an Italian Child.
Guastini A et al.
Hemoglobin, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.
Zhang J et al.
Molecular Genetics & Genomic Medicine, 2019
Hb A2 Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent.
Lederer CW et al.
Hematology (amsterdam, Netherlands), 2017
Haemoglobinopathies that occur with decreased HbA2 levels: a gene mutation set involving the δ gene at a Spanish centre.
Villegas A et al.
Journal of Clinical Pathology, 2017
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
Molecular Characterization of δ-Thalassemia in Iran.
Kordafshari A et al.
Hemoglobin, 2016
First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations.
Alkindi S et al.
International Journal of Laboratory Hematology, 2015
A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.
Khalil MS et al.
Hemoglobin, 2014
Known and new δ-globin gene mutations and other factors influencing Hb A2 measurement in the Omani population.
Hassan SM et al.
Hemoglobin, 2014
First reported case of compound heterozygosity for HbA2-Yialousa (HBD: c.82 G>C) and HbA2-Wrens (HBD: c.295 G>A) in Oman.
Al Zadjali S et al.
International Journal of Hematology, 2013
Analysis of δ-globin gene mutations in the Chinese population.
Liu N et al.
Hemoglobin, 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
Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes.
Lacerra G et al.
Hemoglobin, 2010
Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area.
Lacerra G et al.
Gene, 2008
Mutational spectrum of delta-globin gene in the Portuguese population.
Morgado A et al.
European Journal of Haematology, 2007
Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.
Giambona A et al.
Haematologica, 2006
Known and new delta globin gene mutations and their diagnostic significance.
Bouva MJ et al.
Haematologica, 2006
Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.
De Angioletti M et al.
Human Mutation, 2002
Borderline HbA2 levels: Dilemma in diagnosis of beta-thalassemia carriers.
Colaco S et al.
Mutation Research. Reviews in Mutation Research, 0