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Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

Journal of medical genetics, 2005-12, Vol.42 (12), p.922-931

2005

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DELEÇÃO TALASSÊMICA ALFA0 NOVA (–MOCOCA) DETECTADA EM CRIANÇA COM DOENÇA DA HB H (-A3.7/–MOCOCA)

Hematology, Transfusion and Cell Therapy, 2022-10, Vol.44, p.S547-S547

2022

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TALASSEMIA ALFA RESULTANTE DE DELEÇÃO DO ELEMENTO REGULATÓRIO DO CLUSTER α EM DOIS INDIVÍDUOS NÃO RELACIONADOS

Hematology, Transfusion and Cell Therapy, 2022-10, Vol.44, p.S61-S61

2022

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TALASSEMIA ALFA RESULTANTE DE DELEÇÃO DO ELEMENTO REGULATÓRIO DO CLUSTER α EM DOIS INDIVÍDUOS NÃO RELACIONADOS

Hematology, Transfusion and Cell Therapy, 2022-10, Vol.44, p.S61

2022

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DELEÇÃO TALASSÊMICA ALFA0 NOVA (–MOCOCA) DETECTADA EM CRIANÇA COM DOENÇA DA HB H (-A3.7/–MOCOCA)

Hematology, Transfusion and Cell Therapy, 2022-10, Vol.44, p.S547

2022

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Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients

Haematologica (Roma), 2004-10, Vol.89 (10), p.1172

2004

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Known and new delta globin gene mutations and their diagnostic significance

Haematologica (Roma), 2006-01, Vol.91 (1), p.129-132

2006

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Molecular spectrum of α‐thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects

American journal of hematology, 2003-10, Vol.74 (2), p.99-103

2003

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Molecular analysis of complex cases of alpha- and beta-thalassemia in Mexican mestizo patients with microcytosis and hypochromia reveals two novel alpha super(0)-thalassemia deletions - - super(Mex1) and - - super(Mex2)

International journal of laboratory hematology, 2016-10, Vol.38 (5), p.535-542

2016

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Hb Haaglanden: a new nonsickling beta 7Glu>Val variant. Consequences for basic diagnostics, screening, and risk assessment when dealing with HbS-like variants

International journal of laboratory hematology, 2012-10, Vol.34 (5), p.551-555

2012

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A novel deletion causing α thalassemia clarifies the importance of the major human alpha globin regulatory element

Blood, 2006-05, Vol.107 (9), p.3811-3812

2006

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Estimating the attitude of immigrants toward primary prevention of the hemoglobinopathies

Prenatal diagnosis, 2005-10, Vol.25 (10), p.885-893

2005

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A Confidential Inquiry Estimating the Number of Patients Affected with Sickle Cell Disease and Thalassemia Major Confirms the Need for a Prevention Strategy in The Netherlands

Hemoglobin, 2004, Vol.28 (4), p.287-296

2004

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Genetic polymorphism of the major regulatory element HS‐40 upstream of the human α‐globin gene cluster

British journal of haematology, 2002-12, Vol.119 (3), p.848-854

2002

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Molecular basis of Hb H disease in southwest Iran

Hemoglobin, 2005, Vol.29 (1), p.43-50

2005

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β-globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays

European journal of human genetics : EJHG, 2004-07, Vol.12 (7), p.567-573

2004

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Paediatric allogeneic bone marrow transplantation for homozygous β-thalassaemia, the Dutch experience

Bone marrow transplantation (Basingstoke), 2003-06, Vol.31 (12), p.1081-1087

2003

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A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype

Haematologica (Roma), 2005-04, Vol.90 (4), p.551

2005

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Hb Bronovo, a new globin gene mutation at alpha2 103 (His->Leu) associated with an alpha thalassemia phenotype

Haematologica (Roma), 2006-04, Vol.91 (4), p.570

2006

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Alpha-thalassaemia as a result of a novel splice donor site mutation of the alpha-globin gene

British journal of haematology, 2000-09, Vol.110 (3), p.694

2000

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Hb zoeterwoude [beta23(B5)Val-->Ala)]: a new beta-globin variant found in association with erythrocytosis

Hemoglobin, 2005, Vol.29 (1), p.11-17

2005

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Hb Oegstgeest [α104(G11)Cys → Ser (α1)]. A New Hemoglobin Variant Associated with a Mild α-Thalassemia Phenotype

Hemoglobin, 2005, Vol.29 (3), p.165-169

2005

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Hb Geldrop St. Anna [beta94(FG1)Asp --> Tyr]: a new hemoglobin variant observed in a diabetic patient

Hemoglobin, 2005-01, Vol.29 (2), p.107-112

2005

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MOLECULAR SPECTRUM OF α-THALASSEMIA IN TUNISIA: EPIDEMIOLOGY AND DETECTION AT BIRTH

Hemoglobin, 2002-01, Vol.26 (4), p.353-362

2002

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Hb Amsterdam [α32(B13)Met→Ile (α2)]: A New Unstable Variant Associated with an α-Thalassemia Phenotype and a New African Polymorphism

Hemoglobin, 2005-01, Vol.29 (4), p.257-262

2005

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Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification

DELEÇÃO TALASSÊMICA ALFA0 NOVA (–MOCOCA) DETECTADA EM CRIANÇA COM DOENÇA DA HB H (-A3.7/–MOCOCA)

TALASSEMIA ALFA RESULTANTE DE DELEÇÃO DO ELEMENTO REGULATÓRIO DO CLUSTER α EM DOIS INDIVÍDUOS NÃO RELACIONADOS

TALASSEMIA ALFA RESULTANTE DE DELEÇÃO DO ELEMENTO REGULATÓRIO DO CLUSTER α EM DOIS INDIVÍDUOS NÃO RELACIONADOS

DELEÇÃO TALASSÊMICA ALFA0 NOVA (–MOCOCA) DETECTADA EM CRIANÇA COM DOENÇA DA HB H (-A3.7/–MOCOCA)

Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients

Known and new delta globin gene mutations and their diagnostic significance

Molecular spectrum of α‐thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects

Molecular analysis of complex cases of alpha- and beta-thalassemia in Mexican mestizo patients with microcytosis and hypochromia reveals two novel alpha super(0)-thalassemia deletions - - super(Mex1) and - - super(Mex2)

Hb Haaglanden: a new nonsickling beta 7Glu>Val variant. Consequences for basic diagnostics, screening, and risk assessment when dealing with HbS-like variants

A novel deletion causing α thalassemia clarifies the importance of the major human alpha globin regulatory element

Estimating the attitude of immigrants toward primary prevention of the hemoglobinopathies

A Confidential Inquiry Estimating the Number of Patients Affected with Sickle Cell Disease and Thalassemia Major Confirms the Need for a Prevention Strategy in The Netherlands

Genetic polymorphism of the major regulatory element HS‐40 upstream of the human α‐globin gene cluster

Molecular basis of Hb H disease in southwest Iran

β-globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays

Paediatric allogeneic bone marrow transplantation for homozygous β-thalassaemia, the Dutch experience

A new polyadenylation site mutation associated with a mild beta-thalassemia phenotype

Hb Bronovo, a new globin gene mutation at alpha2 103 (His->Leu) associated with an alpha thalassemia phenotype

Alpha-thalassaemia as a result of a novel splice donor site mutation of the alpha-globin gene

Hb zoeterwoude [beta23(B5)Val-->Ala)]: a new beta-globin variant found in association with erythrocytosis

Hb Oegstgeest [α104(G11)Cys → Ser (α1)]. A New Hemoglobin Variant Associated with a Mild α-Thalassemia Phenotype

Hb Geldrop St. Anna [beta94(FG1)Asp --> Tyr]: a new hemoglobin variant observed in a diabetic patient

MOLECULAR SPECTRUM OF α-THALASSEMIA IN TUNISIA: EPIDEMIOLOGY AND DETECTION AT BIRTH

Hb Amsterdam [α32(B13)Met→Ile (α2)]: A New Unstable Variant Associated with an α-Thalassemia Phenotype and a New African Polymorphism

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