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Noninvasive prenatal diagnosis of β-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment

Prenatal diagnosis, 2007-12, Vol.27 (13), p.1228-1232

2007

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Scanning of β‐globin gene for identification of β‐thalassemia mutation in Romanian population

Journal of cellular and molecular medicine, 2004-04, Vol.8 (2), p.232-240

2004

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Molecular, haematological and clinical studies of the −101 C → T substitution of the β‐globin gene promoter in 25 β‐thalassaemia intermedia patients and 45 heterozygotes

British journal of haematology, 1999-12, Vol.107 (4), p.699-706

1999

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An evaluation of PGD in clinical genetic services through 3 years application for prevention of β‐thalassaemia major and sickle cell thalassaemia

Molecular human reproduction, 2003-05, Vol.9 (5), p.301-307

2003

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The triplicated α‐globin gene locus in β‐thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies

British journal of haematology, 1996-12, Vol.95 (3), p.467-471

1996

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Pregnancies following blastocyst stage transfer in PGD cycles at risk for β-thalassaemic haemoglobinopathies

Human reproduction (Oxford), 2002-01, Vol.17 (1), p.25-31

2002

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Molecular, haematological and clinical studies of a silent β‐gene C → G mutation at 6 bp 3′ to the termination codon (+1480 C → G) in twelve Greek families

British journal of haematology, 1998-10, Vol.103 (1), p.45-51

1998

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Molecular Studies of β-Thalassemia Heterozygotes with Raised Hb F Levels

Hemoglobin, 2000-01, Vol.24 (3), p.203-220

2000

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Erythroid bone marrow activity and red cell hemoglobinization in iron sufficient beta-thalassemia heterozygotes as reflected by soluble transferrin receptor and reticulocyte hemoglobin in content. Correlation with genotypes and Hb A(2) levels

Haematologica (Roma), 2003-06, Vol.88 (6), p.631

2003

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Rare β-Thalassemia Alleles In the Greek and Greek Cypriot Populations

Hemoglobin, 1998, Vol.22 (1), p.89-94

1998

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Preimplantation genetic diagnosis in 10 couples at risk for transmitting β-thalassaemia major: clinical experience including the initiation of six singleton pregnancies

Prenatal diagnosis, 1999-12, Vol.19 (13), p.1217-1222

1999

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A widely applicable strategy for single cell genotyping of β-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis

Prenatal diagnosis, 1999-12, Vol.19 (13), p.1209-1216

1999

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Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of beta-thalassaemia major

Human reproduction (Oxford), 2005-07, Vol.20 (7), p.1855-1859

2005

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Distinct Phenotypic Expression Associated with a New Hyperunstable Alpha Globin Variant (Hb Heraklion, α1cd37(C2)Pro>0): Comparison to Other α-Thalassemic Hemoglobinopathies

Blood cells, molecules, & diseases, 2000-08, Vol.26 (4), p.276-284

2000

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Erythroid marrow activity and functional anemia in patients with the rare interaction of a single functional a-globin and beta-globin gene

Haematologica (Roma), 2001-04, Vol.86 (4), p.363

2001

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The molecular basis of normal HbA2 (type 2) beta-thalassemia in Greece

Hematologic pathology, 1994, Vol.8 (1-2), p.25

1994

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Molecular Characterization of Homozygous (High HbA2) β-Thalassemia Intermedia in Greece

Pediatric hematology and oncology, 1995, Vol.12 (1), p.37-45

1995

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Hematologic phenotype of the mutations IVS1-n6 (T→C), IVS1-n110 (G→A), and CD39 (C→T) in carriers of β-thalassemia in Greece

Pediatric hematology and oncology, 1994-09, Vol.11 (5), p.509-517

1994

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Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia

International journal of molecular sciences, 2024-08, Vol.25 (16), p.8928

2024

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A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H

Blood, 2020-10, Vol.136 (15), p.1789-1793

2020

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Noninvasive prenatal diagnosis of β-thalassaemia using individual fetal erythroblasts isolated from maternal blood after enrichment

Scanning of β‐globin gene for identification of β‐thalassemia mutation in Romanian population

Molecular, haematological and clinical studies of the −101 C → T substitution of the β‐globin gene promoter in 25 β‐thalassaemia intermedia patients and 45 heterozygotes

An evaluation of PGD in clinical genetic services through 3 years application for prevention of β‐thalassaemia major and sickle cell thalassaemia

The triplicated α‐globin gene locus in β‐thalassaemia heterozygotes: clinical, haematological, biosynthetic and molecular studies

Pregnancies following blastocyst stage transfer in PGD cycles at risk for β-thalassaemic haemoglobinopathies

Molecular, haematological and clinical studies of a silent β‐gene C → G mutation at 6 bp 3′ to the termination codon (+1480 C → G) in twelve Greek families

Molecular Studies of β-Thalassemia Heterozygotes with Raised Hb F Levels

Erythroid bone marrow activity and red cell hemoglobinization in iron sufficient beta-thalassemia heterozygotes as reflected by soluble transferrin receptor and reticulocyte hemoglobin in content. Correlation with genotypes and Hb A(2) levels

Rare β-Thalassemia Alleles In the Greek and Greek Cypriot Populations

Preimplantation genetic diagnosis in 10 couples at risk for transmitting β-thalassaemia major: clinical experience including the initiation of six singleton pregnancies

A widely applicable strategy for single cell genotyping of β-thalassaemia mutations using DGGE analysis: application to preimplantation genetic diagnosis

Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of beta-thalassaemia major

Distinct Phenotypic Expression Associated with a New Hyperunstable Alpha Globin Variant (Hb Heraklion, α1cd37(C2)Pro>0): Comparison to Other α-Thalassemic Hemoglobinopathies

Erythroid marrow activity and functional anemia in patients with the rare interaction of a single functional a-globin and beta-globin gene

The molecular basis of normal HbA2 (type 2) beta-thalassemia in Greece

Molecular Characterization of Homozygous (High HbA2) β-Thalassemia Intermedia in Greece

Hematologic phenotype of the mutations IVS1-n6 (T→C), IVS1-n110 (G→A), and CD39 (C→T) in carriers of β-thalassemia in Greece

Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia

A new gene associated with a β-thalassemia phenotype: the observation of variants in SUPT5H

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