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Updates of the HbVar database of human hemoglobin variants and thalassemia mutations

Nucleic acids research, 2014-01, Vol.42 (Database issue), p.D1063

2014

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Ex vivo generation of fully mature human red blood cells from hematopoietic stem cells

Nature biotechnology, 2005-01, Vol.23 (1), p.69-74

2005

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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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Role of α-globin H helix in the building of tetrameric human hemoglobin: interaction with α-hemoglobin stabilizing protein (AHSP) and heme molecule

PloS one, 2014-11, Vol.9 (11), p.e111395-e111395

2014

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β-Thalassemia Intermedia in Northern Iraq: A Single Center Experience

BioMed research international, 2014-01, Vol.2014, p.262853-9

2014

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HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

Human mutation, 2002-03, Vol.19 (3), p.225-233

2002

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Interaction Between Unstable Hemoglobins and Thalassemias

Hemoglobin, 2019-11, Vol.43 (6), p.314-314

Wajcman, Henri

2019

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Structure and function evolution in the superfamily of globins

Comptes rendus. Biologies, 2009-02, Vol.332 (2), p.273-282

2009

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A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene

Haematologica (Roma), 2008-07, Vol.93 (7), p.1072-1075

2008

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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

2021

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Characterization of V36C, a Novel Amino Acid Substitution Conferring Hepatitis C Virus (HCV) Resistance to Telaprevir, a Potent Peptidomimetic Inhibitor of HCV Protease

Antimicrobial Agents and Chemotherapy, 2010-06, Vol.54 (6), p.2681-2683

2010

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Unstable Alpha Hemoglobin Stabilizing Protein as a Cause of Thalassemia: Proof of Concept

Blood, 2009-11, Vol.114 (22), p.462-462

2009

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Pitfalls in the biological diagnosis of common hemoglobin disorders

Annales de biologie clinique (Paris), 2015-09, Vol.73 (5), p.535-543

2015

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Chronic hemolytic anemia due to novel α-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect

Haematologica (Roma), 2009-11, Vol.94 (11), p.1624-1625

2009

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Pitfalls in the biological diagnosis of common hemoglobin disorders

Annales de biologie clinique (Paris), 2015-09, Vol.73 (5), p.535-543

2015

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Globin chain analysis: An important tool in phenotype study of hemoglobin disorders

Clinical biochemistry, 2009-12, Vol.42 (18), p.1802-1806

2009

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Hb Angers: A new α2‐globin variant [α2 (140)(HC2) Tyr → Ser; HBA2: C.422 A>C] with increased oxygen affinity leading to erythrocytosis

International Journal of Laboratory Hematology, 2021-06, Vol.43 (3), p.e114-e117

2021

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A high level of Hb F unmasks a new case of Hb Wanjiang (β (F3-F4) Ala87_Thr88delinsSer_Gln (HBB:c.255_264 delinsTTTTTCTCAG)) in a pregnant woman of African ancestry

International journal of laboratory hematology, 2023-12, Vol.45 (6), p.990-994

2023

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Precision of CAPILLARYS 2 for the Detection of Hemoglobin Variants Based on Their Migration Positions

American journal of clinical pathology, 2018-01, Vol.149 (2), p.172-180

2018

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Pitfalls in the genetic diagnosis of Hb S

Clinical biochemistry, 2013-03, Vol.46 (4-5), p.291-299

2013

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Cation-exchange HPLC evaluated for presumptive identification of hemoglobin variants

Clinical chemistry (Baltimore, Md.), 1997-01, Vol.43 (1), p.34-39

1997

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Pyruvate Kinase (PK) Deficiency in Newborns: The Pitfalls of Diagnosis

The Journal of pediatrics, 2007-04, Vol.150 (4), p.443-445

2007

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Abnormal haemoglobins: detection & characterization

Indian journal of medical research (New Delhi, India : 1994), 2011-10, Vol.134, p.538

2011

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Limits of Phenotype Analyses in the Diagnosis of HbS Heterozygosity. Example of a Hb S Carrier Phenocopy Due to Hb Arya (Alpha 1: codon 47 Asp>Asn) and a Gene Conversion

Blood, 2016-12, Vol.128 (22), p.4850-4850

2016

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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

2004

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Updates of the HbVar database of human hemoglobin variants and thalassemia mutations

Ex vivo generation of fully mature human red blood cells from hematopoietic stem cells

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

Role of α-globin H helix in the building of tetrameric human hemoglobin: interaction with α-hemoglobin stabilizing protein (AHSP) and heme molecule

β-Thalassemia Intermedia in Northern Iraq: A Single Center Experience

HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server

Interaction Between Unstable Hemoglobins and Thalassemias

Structure and function evolution in the superfamily of globins

A study of 36 unrelated cases with pure erythrocytosis revealed three new mutations in the erythropoietin receptor gene

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

Characterization of V36C, a Novel Amino Acid Substitution Conferring Hepatitis C Virus (HCV) Resistance to Telaprevir, a Potent Peptidomimetic Inhibitor of HCV Protease

Unstable Alpha Hemoglobin Stabilizing Protein as a Cause of Thalassemia: Proof of Concept

Pitfalls in the biological diagnosis of common hemoglobin disorders

Chronic hemolytic anemia due to novel α-globin chain variants: critical location of the mutation within the gene sequence for a dominant effect

Pitfalls in the biological diagnosis of common hemoglobin disorders

Globin chain analysis: An important tool in phenotype study of hemoglobin disorders

Hb Angers: A new α2‐globin variant [α2 (140)(HC2) Tyr → Ser; HBA2: C.422 A>C] with increased oxygen affinity leading to erythrocytosis

A high level of Hb F unmasks a new case of Hb Wanjiang (β (F3-F4) Ala87_Thr88delinsSer_Gln (HBB:c.255_264 delinsTTTTTCTCAG)) in a pregnant woman of African ancestry

Precision of CAPILLARYS 2 for the Detection of Hemoglobin Variants Based on Their Migration Positions

Pitfalls in the genetic diagnosis of Hb S

Cation-exchange HPLC evaluated for presumptive identification of hemoglobin variants

Pyruvate Kinase (PK) Deficiency in Newborns: The Pitfalls of Diagnosis

Abnormal haemoglobins: detection & characterization

Limits of Phenotype Analyses in the Diagnosis of HbS Heterozygosity. Example of a Hb S Carrier Phenocopy Due to Hb Arya (Alpha 1: codon 47 Asp>Asn) and a Gene Conversion

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

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