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Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations

Nucleic acids research, 2021-01, Vol.49 (D1), p.D1192-D1196

2021

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Sickle cell disease in Saudi Arabia: the phenotype in adults with the Arab‐Indian haplotype is not benign

British journal of haematology, 2014-02, Vol.164 (4), p.597-604

2014

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Fetal haemoglobin levels and haematological characteristics of compound heterozygotes for haemoglobin S and deletional hereditary persistence of fetal haemoglobin

British journal of haematology, 2012-01, Vol.156 (2), p.259-264

2012

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Fetal hemoglobin in sickle cell anemia

Blood, 2011-07, Vol.118 (1), p.19-27

2011

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MS Analysis of Single-Nucleotide Differences in Circulating Nucleic Acids: Application to Noninvasive Prenatal Diagnosis

Proceedings of the National Academy of Sciences - PNAS, 2004-07, Vol.101 (29), p.10762-10767

2004

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The aryl hydrocarbon receptor directs hematopoietic progenitor cell expansion and differentiation

Blood, 2013-07, Vol.122 (3), p.376-385

2013

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Notch and Aryl Hydrocarbon Receptor Signaling Impact Definitive Hematopoiesis from Human Pluripotent Stem Cells

Stem cells (Dayton, Ohio), 2018-07, Vol.36 (7), p.1004-1019

2018

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The effects of hydroxycarbamide and magnesium on haemoglobin SC disease: results of the multi‐centre CHAMPS trial

British journal of haematology, 2011-03, Vol.152 (6), p.771-776

2011

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Hemoglobin H disease: not necessarily a benign disorder

Blood, 2003-02, Vol.101 (3), p.791-800

2003

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A phase 2 study of HQK‐1001, an oral fetal haemoglobin inducer, in β‐thalassaemia intermedia

British journal of haematology, 2014-02, Vol.164 (3), p.456-458

2014

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Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5′ olfactory receptor gene cluster

Blood, 2010-03, Vol.115 (9), p.1815-1822

2010

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Fetal hemoglobin in sickle cell anemia: Saudi patients from the Southwestern province have similar HBB haplotypes but higher HbF levels than African Americans

American journal of hematology, 2011-07, Vol.86 (7), p.612-614

2011

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Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

Nucleic acids research, 2004-01, Vol.32 (Database issue), p.D537-541

2004

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A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression

Blood, 2011-05, Vol.117 (18), p.4935-4945

2011

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Strategies to improve pharmacogenomic-guided treatment options for patients with β-hemoglobinopathies

Expert review of hematology, 2021-10, Vol.14 (10), p.883-885

2021

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Diverse hematological phenotypes of β-thalassemia carriers

Annals of the New York Academy of Sciences, 2016-03, Vol.1368 (1), p.49-55

2016

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A T-to-G Transversion at Nucleotide −567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F

Molecular and Cellular Biology, 2008-07, Vol.28 (13), p.4386-4393

2008

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Fetal hemoglobin in sickle cell anemia: a glass half full?

Blood, 2014-01, Vol.123 (4), p.481-485

2014

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HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update

Human mutation, 2007-02, Vol.28 (2), p.206-206

2007

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MALDI-ISD Mass Spectrometry Analysis of Hemoglobin Variants: a Top-Down Approach to the Characterization of Hemoglobinopathies

Journal of the American Society for Mass Spectrometry, 2015-08, Vol.26 (8), p.1299-1310

2015

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Unexpectedly low pulse oximetry measurements associated with variant hemoglobins: A systematic review

American journal of hematology, 2010-11, Vol.85 (11), p.882-885

2010

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Fetal hemoglobin in sickle cell anemia: Molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans

American journal of hematology, 2012-02, Vol.87 (2), p.217-219

2012

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Alpha‐thalassemia. Case report alpha‐thalassemia in a Costa Rican family, A case report

Clinical case reports, 2021-01, Vol.9 (1), p.291-293

2021

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Prenatal exclusion of β thalassaemia major by examination of maternal plasma

The Lancet (British edition), 2002-09, Vol.360 (9338), p.998-1000

2002

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Editing aberrant splice sites efficiently restores β-globin expression in β-thalassemia

Blood, 2019-05, Vol.133 (21), p.2255-2262

2019

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Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations

Sickle cell disease in Saudi Arabia: the phenotype in adults with the Arab‐Indian haplotype is not benign

Fetal haemoglobin levels and haematological characteristics of compound heterozygotes for haemoglobin S and deletional hereditary persistence of fetal haemoglobin

Fetal hemoglobin in sickle cell anemia

MS Analysis of Single-Nucleotide Differences in Circulating Nucleic Acids: Application to Noninvasive Prenatal Diagnosis

The aryl hydrocarbon receptor directs hematopoietic progenitor cell expansion and differentiation

Notch and Aryl Hydrocarbon Receptor Signaling Impact Definitive Hematopoiesis from Human Pluripotent Stem Cells

The effects of hydroxycarbamide and magnesium on haemoglobin SC disease: results of the multi‐centre CHAMPS trial

Hemoglobin H disease: not necessarily a benign disorder

A phase 2 study of HQK‐1001, an oral fetal haemoglobin inducer, in β‐thalassaemia intermedia

Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5′ olfactory receptor gene cluster

Fetal hemoglobin in sickle cell anemia: Saudi patients from the Southwestern province have similar HBB haplotypes but higher HbF levels than African Americans

Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies

A 3-bp deletion in the HBS1L-MYB intergenic region on chromosome 6q23 is associated with HbF expression

Strategies to improve pharmacogenomic-guided treatment options for patients with β-hemoglobinopathies

Diverse hematological phenotypes of β-thalassemia carriers

A T-to-G Transversion at Nucleotide −567 Upstream of HBG2 in a GATA-1 Binding Motif Is Associated with Elevated Hemoglobin F

Fetal hemoglobin in sickle cell anemia: a glass half full?

HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update

MALDI-ISD Mass Spectrometry Analysis of Hemoglobin Variants: a Top-Down Approach to the Characterization of Hemoglobinopathies

Unexpectedly low pulse oximetry measurements associated with variant hemoglobins: A systematic review

Fetal hemoglobin in sickle cell anemia: Molecular characterization of the unusually high fetal hemoglobin phenotype in African Americans

Alpha‐thalassemia. Case report alpha‐thalassemia in a Costa Rican family, A case report

Prenatal exclusion of β thalassaemia major by examination of maternal plasma

Editing aberrant splice sites efficiently restores β-globin expression in β-thalassemia

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