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Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′-UTR of the HAMP gene

Blood, 2004-10, Vol.104 (7), p.2181-2183

2004

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Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations

British journal of haematology, 1999-01, Vol.104 (1), p.97-99

1999

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Severe inclusion body β‐thalassaemia with haemolysis in a patient double heterozygous for β°‐thalassaemia and quadruplicated α‐globin gene arrangement of the anti‐4.2 type

British journal of haematology, 1999-06, Vol.105 (4), p.1074-1080

1999

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Prevention of beta-thalassemia major and Hb Bart's hydrops fetalis syndrome

Seminars in hematology, 1995-10, Vol.32 (4), p.244-261

1995

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Hb Iraq‐Halabja β10 (A7) Ala→Val (GCC→GTC): A new β‐chain silent variant in a family with multiple Hb disorders

American journal of hematology, 1999-07, Vol.61 (3), p.187-193

1999

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BCR-Negative chronic myeloid leukemia in relapse after bone marrow transplantation is susceptible to remission induction by donor lymphocyte infusions

European journal of haematology, 1999-10, Vol.63 (4), p.280-281

1999

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Hypothesis for generation of the unstable Hb Bucuresti (beta 42 Phe-->Leu) mutation

The hematology journal : the official journal of the European Haematology Association, 2001, Vol.2 (1), p.61-66

2001

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De novo initiation codon mutation (ATG→ACG) of the β‐globin gene causing β‐thalassemia in a swiss family

American journal of hematology, 1993-03, Vol.42 (3), p.248-253

1993

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Common Knowledge: The Challenge of Transdisciplinarity

1, 2011

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Interaction of heterozygous beta (0)-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family

Klinische Wochenschrift, 1991-10, Vol.69 (15), p.710-714

1991

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Severe inclusion body (beta)-thalassaemia with haemolysis in a patient double heterozygous for (beta)(degree)-Thalassaemia and quadruplicated (alpha)-globin gene arrangement of the

British journal of haematology, 1999-06, Vol.105 (4), p.1074

1999

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Molecular pathology of thalassemia intermedia

The hematology journal : the official journal of the European Haematology Association, 2004, Vol.5 Suppl 3, p.S199-S204

2004

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Haemoglobin Tunis‐Bizerte: a new a globin 129 Leu–> Pro unstable variant with thalassaemic phenotype

British journal of haematology, 1995-05, Vol.90 (1), p.71-76

1995

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Investigation of microcytosis: a comprehensive approach

European journal of haematology, 1996-07, Vol.57 (1), p.54-61

1996

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Trisomy 13 in a Philadelphia negative chromosome and BCR-ABL negative myeloproliferative disorder

Cancer genetics and cytogenetics, 1999-06, Vol.111 (2), p.184-185

1999

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Hb Iraq-Halabja beta10 (A7) Ala-->Val (GCC-->GTC): a new beta-chain silent variant in a family with multiple Hb disorders

American journal of hematology, 1999-07, Vol.61 (3), p.187-193

1999

Volltextzugriff (PDF)

Hb Iraq-Halabja ?10 (A7) Ala?Val (GCC?GTC): A new ?-chain silent variant in a family with multiple Hb disorders

American journal of hematology, 1999-07, Vol.61 (3), p.187-193

1999

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Prevention of β-thalassemia major and Hb Bart's hydrops fetalis syndrome: Thalassemia management. I

Seminars in hematology, 1995, Vol.32 (4), p.244-261

1995

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379 DNA sequence analysis of the unstable hemoglobin bucuresti (β 42 PHE → LEU)

Journal of pediatric hematology/oncology, 1999-07, Vol.21 (4), p.320

1999

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Haemoglobin Tunis-Bizerte: a new alpha 1 globin 129 Leu-->Pro unstable variant with thalassaemic phenotype

British journal of haematology, 1995-05, Vol.90 (1), p.71-76

1995

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Haemoglobin Tunis-Bizerte : a new α1 globin 129 Leu→Pro unstable variant with thalassaemic phenotype

British journal of haematology, 1995, Vol.90 (1), p.71-76

1995

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Concomitant inheritance of homozygous alpha-thalassemia-2 with homozygous IVS-I-5 G-C beta gene mutation does not influence the severity of the thalassemic phenotype

Nouvelle revue francaise d'hematologie, 1991, Vol.33 (3), p.227

1991

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Prenatal diagnosis of thalassemia and hemaglobinopathiesin Switzerland

European journal of haematology, 1991, Vol.46 (3), p.163-171

1991

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Prenatal diagnosis of thalassemia and hemoglobinopathies in Switzerland

European journal of haematology, 1991-03, Vol.46 (3), p.163-171

1991

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Interaction of heterozygous β0-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family

Klinische Wochenschrift, 1991-10, Vol.69 (15), p.710-714

1991

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Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5′-UTR of the HAMP gene

Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations

Severe inclusion body β‐thalassaemia with haemolysis in a patient double heterozygous for β°‐thalassaemia and quadruplicated α‐globin gene arrangement of the anti‐4.2 type

Prevention of beta-thalassemia major and Hb Bart's hydrops fetalis syndrome

Hb Iraq‐Halabja β10 (A7) Ala→Val (GCC→GTC): A new β‐chain silent variant in a family with multiple Hb disorders

BCR-Negative chronic myeloid leukemia in relapse after bone marrow transplantation is susceptible to remission induction by donor lymphocyte infusions

Hypothesis for generation of the unstable Hb Bucuresti (beta 42 Phe-->Leu) mutation

De novo initiation codon mutation (ATG→ACG) of the β‐globin gene causing β‐thalassemia in a swiss family

Common Knowledge: The Challenge of Transdisciplinarity

Interaction of heterozygous beta (0)-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family

Severe inclusion body (beta)-thalassaemia with haemolysis in a patient double heterozygous for (beta)(degree)-Thalassaemia and quadruplicated (alpha)-globin gene arrangement of the

Molecular pathology of thalassemia intermedia

Haemoglobin Tunis‐Bizerte: a new a globin 129 Leu–> Pro unstable variant with thalassaemic phenotype

Investigation of microcytosis: a comprehensive approach

Trisomy 13 in a Philadelphia negative chromosome and BCR-ABL negative myeloproliferative disorder

Hb Iraq-Halabja beta10 (A7) Ala-->Val (GCC-->GTC): a new beta-chain silent variant in a family with multiple Hb disorders

Hb Iraq-Halabja ?10 (A7) Ala?Val (GCC?GTC): A new ?-chain silent variant in a family with multiple Hb disorders

Prevention of β-thalassemia major and Hb Bart's hydrops fetalis syndrome: Thalassemia management. I

379 DNA sequence analysis of the unstable hemoglobin bucuresti (β 42 PHE → LEU)

Haemoglobin Tunis-Bizerte: a new alpha 1 globin 129 Leu-->Pro unstable variant with thalassaemic phenotype

Haemoglobin Tunis-Bizerte : a new α1 globin 129 Leu→Pro unstable variant with thalassaemic phenotype

Concomitant inheritance of homozygous alpha-thalassemia-2 with homozygous IVS-I-5 G-C beta gene mutation does not influence the severity of the thalassemic phenotype

Prenatal diagnosis of thalassemia and hemaglobinopathiesin Switzerland

Prenatal diagnosis of thalassemia and hemoglobinopathies in Switzerland

Interaction of heterozygous β0-thalassemia and triplicated alpha globin loci in a Swiss-Spanish family

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