EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies

Advances in technologies for screening and diagnosis of hemoglobinopathies

(2013) Jan Traeger-Synodinos et al.   Biomarkers in Medicine

World Distribution, Population Genetics, and Health Burden of the Hemoglobinopathies

(2013) T. N. Williams et al.   Cold Spring Harbor Perspectives in Medicine

Editorial: Measurement of HbA2

(2012) Piero C. Giordano   International Journal of Laboratory Hematology

Molecular study and genotype/phenotype correlation of β thalassemia in Malaysia

(2012) M. SIVALINGAM et al.   International Journal of Laboratory Hematology

Interlaboratory comparison of current high-performance methods for HbA2

(2012) R. PALEARI et al.   International Journal of Laboratory Hematology

KLF1 gene mutations cause borderline HbA2

(2011) L. Perseu et al.   BLOOD

ICSH recommendations for the measurement of Haemoglobin F

(2011) A. D. STEPHENS et al.   International Journal of Laboratory Hematology

Laboratory Guidelines for Detection, Interpretation, and Reporting of Maternal Cell Contamination in Prenatal Analyses

(2011) Narasimhan Nagan et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Screening for clinically significant non-deletional alpha thalassaemia mutations by pyrosequencing

(2010) Anna Haywood et al.   ANNALS OF HEMATOLOGY

Complexity of alpha thalassemia: growing health problem with new approaches to screening, diagnosis, and therapy

(2010) Elliott Vichinsky   Annals of the New York Academy of Sciences

Significant haemoglobinopathies: guidelines for screening and diagnosis

(2010) Kate Ryan et al.   BRITISH JOURNAL OF HAEMATOLOGY

Approaches to quality management and accreditation in a genetic testing laboratory

(2010) Sarah Berwouts et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

High-resolution DNA melting analysis in clinical research and diagnostics

(2010) Jesse L Montgomery et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

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

(2010) M. PHYLIPSEN et al.   International Journal of Laboratory Hematology

Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations

(2009) P. VAN DELFT et al.   International Journal of Laboratory Hematology

Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients

(2008) C.L. Harteveld et al.   BLOOD CELLS MOLECULES AND DISEASES