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Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region

Haematologica (Roma), 2015-05, Vol.100 (5), p.e166

2015

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Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes

Blood, 2009-02, Vol.113 (7), p.1543-1546

2009

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Microcytosis in patients with haemoglobin C trait: is α‐thalassaemia trait to blame?

British journal of haematology, 2020-12, Vol.191 (5), p.e129-e131

2020

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Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia

Hemoglobin, 2024-03, Vol.48 (2), p.116-117

2024

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Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( HBB :c.336dup)

Hemoglobin, 2024-03, Vol.48 (2), p.113-115

2024

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β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T]

Hemoglobin, 2024-01, Vol.48 (1), p.69-70

2024

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Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel

European journal of haematology, 2017-03, Vol.98 (3), p.228-234

2017

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Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene

Blood, 2010-02, Vol.115 (6), p.1264-1266

2010

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A Novel Human β-Globin Gene Variant [Hb London-Ontario, HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait

Hemoglobin, 2019-03, Vol.43 (2), p.129-131

2019

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Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]

Hemoglobin, 2020-01, Vol.44 (1), p.10-12

2020

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Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene

Hemoglobin, 2017-11, Vol.41 (4-6), p.239-242

2017

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Consensus statement for the perinatal management of patients with α thalassemia major

Blood advances, 2021-12, Vol.5 (24), p.5636-5639

2021

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Burden and Determinants of Anemia in a Rural Population in South India: A Cross-Sectional Study

Anemia, 2018-01, Vol.2018, p.7123976-9

2018

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Novel 27.9 kb alpha(0)-thalassemia deletion in a Filipino woman

American journal of hematology, 2009-03, Vol.84 (3), p.197-198

2009

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Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of the β-Globin Gene Promoter (HBB: c.-133G > A)

Hemoglobin, 2014-12, Vol.38 (6), p.447-448

2014

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Mild β+-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A)

Hemoglobin, 2013-01, Vol.37 (4), p.378-386

2013

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Hb H hydrops foetalis syndrome: a case report and review of literature

British journal of haematology, 2001-10, Vol.115 (1), p.72-78

2001

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β+-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C]

Hemoglobin, 2011-02, Vol.35 (1), p.84-86

2011

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Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles

Hemoglobin, 2010-08, Vol.34 (4), p.374-382

2010

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THE Hb S β+-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele

Hemoglobin, 2008-01, Vol.32 (3), p.303-307

2008

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Prenatal Diagnosis of Hemoglobinopathies in Ontario, Canada

Annals of the New York Academy of Sciences, 2005-01, Vol.1054 (1), p.507-510

2005

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Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome

Anemia, 2010-01, Vol.2010, p.565268-7

2010

Volltextzugriff (PDF)

High Oxygen Affinity Hemoglobin Variant in a Canadian Family: Hb Bunbury [ 94(FG1)Asp→Asn, GAC→AAC]

Hemoglobin, 2007, Vol.31 (1), p.101-103

2007

Volltextzugriff (PDF)

Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening

Hemoglobin, 2007-01, Vol.31 (2), p.129-134

2007

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Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening

Hemoglobin, 2006-01, Vol.30 (2), p.149-153

2006

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Hb S/β+-thalassemia due to Hb sickle and a novel deletion of DNase I hypersensitive sites HS3 and HS4 of the β locus control region

Quebec platelet disorder is linked to the urokinase plasminogen activator gene (PLAU) and increases expression of the linked allele in megakaryocytes

Microcytosis in patients with haemoglobin C trait: is α‐thalassaemia trait to blame?

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia

Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation ( HBB :c.336dup)

β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T]

Clinical evaluation of a hemochromatosis next‐generation sequencing gene panel

Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene

A Novel Human β-Globin Gene Variant [Hb London-Ontario, HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait

Novel High Oxygen Affinity Hemoglobin Variant in a Patient with Polycythemia: Hb Kennisis [β85(F1)Phe→Leu (TTT>TTG); HBB: c.258T>G]

Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene

Consensus statement for the perinatal management of patients with α thalassemia major

Burden and Determinants of Anemia in a Rural Population in South India: A Cross-Sectional Study

Novel 27.9 kb alpha(0)-thalassemia deletion in a Filipino woman

Non-Thalassemic Phenotype Associated With the -83 (G > A) Mutation of the β-Globin Gene Promoter (HBB: c.-133G > A)

Mild β+-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A)

Hb H hydrops foetalis syndrome: a case report and review of literature

β+-Thalassemia Trait Due to a Novel Mutation in the β-Globin Gene Promoter: −26 (A>C) [HBB c.−76A>C]

Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles

THE Hb S β+-Thalassemia Phenotype Demonstrates that the IVS-I (−2) (A>C) Mutation is a Mild β-Thalassemia Allele

Prenatal Diagnosis of Hemoglobinopathies in Ontario, Canada

Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome

High Oxygen Affinity Hemoglobin Variant in a Canadian Family: Hb Bunbury [ 94(FG1)Asp→Asn, GAC→AAC]

Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening

Three New α-Thalassemia Point Mutations Ascertained Through Newborn Screening

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