Associated Papers
Unraveling LINE-1 retrotransposition in head and neck squamous cell carcinoma.
Brea-Iglesias J et al.
Molecular Oncology, 2025
40465458 (PubMed )
Supplement: MOL2-19-3769-s001.xlsx › Table_S5
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
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
Tamana S et al.
Elife, 2022
36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-Full_dataset
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
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
Molecular diagnosis of α-thalassemia in a multiethnic population.
Gilad O et al.
European Journal of Haematology, 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
Report on Ten Years' Experience of Premarital Hemoglobinopathy Screening at a Center in Antalya, Southern Turkey.
Canatan D et al.
Hemoglobin, 2016
Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.
van Zwieten R et al.
Hemoglobin, 2014
Alpha chain hemoglobins with electrophoretic mobility similar to that of hemoglobin S in a newborn screening program.
Silva MR et al.
Revista Brasileira De Hematologia E Hemoterapia, 2013
Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants.
Moradkhani K et al.
Annals of Hematology, 2009
Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals.
Kimura EM et al.
Revista Brasileira De Hematologia E Hemoterapia, 0
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