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HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype

Haematologica (Roma), 2013-01, Vol.98 (1), p.e7-e8

2013

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A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease

Haematologica (Roma), 2010-05, Vol.95 (5), p.850-851

2010

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Click-Crosslinked Injectable Gelatin Hydrogels

Advanced healthcare materials, 2016-03, Vol.5 (5), p.541-547

2016

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Rapid and reliable β-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays

Clinica chimica acta, 2011-06, Vol.412 (13), p.1257-1261

2011

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Hb Hope [β136Gly→Asp] and Hb Grady [α119_120insGluPheThr] compound heterozygosity in a Mauritanian patient

Clinical chemistry and laboratory medicine, 2016-02, Vol.54 (2), p.e35

2016

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Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotype

Clinica chimica acta, 2014-01, Vol.427, p.21-22

2014

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UGT1A1 (TA)n genotyping in sickle-cell disease: High resolution melting (HRM) curve analysis or direct sequencing, what is the best way?

Clinica chimica acta, 2013-09, Vol.424, p.258-260

2013

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Description of Three New α Variants and Four New β Variants: Hb Montluel [α110(G17)Ala → Val; HBA1: c.332C > T], Hb Cap d'Agde [α131(H14)Ser → Cys; HBA2: c.395C > G] and Hb Corsica [α100(G7)Leu → Pro; HBA1: 302T > C]; Hb Nîmes [β104(G6)Arg → Gly; HBB: c.313A > G], Hb Saint Marcellin [β112(G14)Cys → Gly; HBB: c.337T > G], Hb Saint Chamond [β80(EF4)Asn → 0; HBB: c.241_243delAAC] and Hb Dompierre [β29(B11)Gly → Arg; HBB: c.88G > C]

Hemoglobin, 2015-06, Vol.39 (3), p.147-151

2015

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UGT 1A1 ( TA ) n genotype is not the major risk factor of cholelithiasis in sickle cell disease children

European journal of haematology, 2017-03, Vol.98 (3), p.296-301

2017

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UGT1A1 (TA)n genotype is not the major risk factor of cholelithiasis in sickle cell disease children

European journal of haematology, 2017-03, Vol.98 (3), p.296-301

2017

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Rapid genotyping of two common G6PD variants, African (A-) and Mediterranean, by high-resolution melting analysis

Clinical biochemistry, 2010, Vol.43 (1), p.193-197

2010

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Identification and molecular characterization of four new large deletions in the β-globin gene cluster

Blood cells, molecules, & diseases, 2009-07, Vol.43 (1), p.53-57

2009

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Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas

Clinica chimica acta, 2013-01, Vol.415, p.35-40

2013

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Description of the Phenotypes of 63 Heterozygous, Homozygous and Compound Heterozygous Patients Carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] Variant

Hemoglobin, 2014-01, Vol.38 (1), p.64-66

2014

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Protein characterization by LC–MS/MS may be required for the DNA identification of a fusion hemoglobin: The example of Hb P-Nilotic

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2012-02, Vol.883-884, p.172-176

2012

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A New Intergenic α -Globin Deletion ( α – α Δ125 ) Found in a Kabyle Population

Hemoglobin, 2015-12, Vol.40 (2), p.108-112

2015

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Two Complex Associations of an HBD Mutation and a Rare α Hemoglobinopathy

Hemoglobin, 2013-01, Vol.37 (5), p.486-491

2013

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A New Intergenic α-Globin Deletion (α-αΔ125) Found in a Kabyle Population

Hemoglobin, 2016-03, Vol.40 (2), p.108-112

2016

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A New Frameshift Mutation on the α 2-Globin Gene Causing α + -Thalassemia: Codon 43 (TTC>–TC or TTC>T–C)

Hemoglobin, 2012-06, Vol.36 (5), p.508-510

2012

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A New Frameshift Mutation on the α2-Globin Gene Causing α+-Thalassemia: Codon 43 (TTC>-TC or TTC>T-C)

Hemoglobin, 2012-06, Vol.36 (5), p.508-510

2012

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Detection of a Thalassemic α-Chain Variant (Hemoglobin Groene Hart) by Reversed-Phase Liquid Chromatography

Clinical chemistry (Baltimore, Md.), 2008-06, Vol.54 (6), p.1053-1059

2008

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Two New Hemoglobin Variants: Hb Aix-Les-Bains [β5(A2)Pro→Leu; HBB:c.17 C>T] and Hb Dubai [α122(H5)His→Leu (α2); HBA2:c.368 A>T]

Hemoglobin, 2011-04, Vol.35 (2), p.147-151

2011

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THROMBOTIC EVENTS IN COMPOUND HETEROZYGOTES FOR A HIGH AFFINITY HEMOGLOBIN VARIANT: Hb MILLEDGEVILLE [α44(CE2)Pro→Leu (α2)] AND FACTOR V LEIDEN

Hemoglobin, 2002-01, Vol.26 (3), p.285-290

2002

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Two New δ-Globin Gene Variants: Hb A2-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A2-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)]

Hemoglobin, 2013-02, Vol.37 (1), p.80-84

2013

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HBB loss of heterozygosity in the hemopoietic lineage gives rise to an unusual sickle-cell trait phenotype

A novel telomeric (approximately 285 kb) α-thalassemia deletion leading to a phenotypically unusual HbH disease

Click-Crosslinked Injectable Gelatin Hydrogels

Rapid and reliable β-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays

Hb Hope [β136Gly→Asp] and Hb Grady [α119_120insGluPheThr] compound heterozygosity in a Mauritanian patient

Molecular characterization of 7 new alpha-1 anti-trypsin (A1AT) variants including two with an associated deficient phenotype

UGT1A1 (TA)n genotyping in sickle-cell disease: High resolution melting (HRM) curve analysis or direct sequencing, what is the best way?

UGT 1A1 ( TA ) n genotype is not the major risk factor of cholelithiasis in sickle cell disease children

UGT1A1 (TA)n genotype is not the major risk factor of cholelithiasis in sickle cell disease children

Rapid genotyping of two common G6PD variants, African (A-) and Mediterranean, by high-resolution melting analysis

Identification and molecular characterization of four new large deletions in the β-globin gene cluster

Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas

Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs2]

Description of the Phenotypes of 63 Heterozygous, Homozygous and Compound Heterozygous Patients Carrying the Hb Groene Hart [α119(H2)Pro→Ser; HBA1: c.358C>T] Variant

Protein characterization by LC–MS/MS may be required for the DNA identification of a fusion hemoglobin: The example of Hb P-Nilotic

A New Intergenic α -Globin Deletion ( α – α Δ125 ) Found in a Kabyle Population

Two Complex Associations of an HBD Mutation and a Rare α Hemoglobinopathy

A New Intergenic α-Globin Deletion (α-αΔ125) Found in a Kabyle Population

A New Frameshift Mutation on the α 2-Globin Gene Causing α + -Thalassemia: Codon 43 (TTC>–TC or TTC>T–C)

A New Frameshift Mutation on the α2-Globin Gene Causing α+-Thalassemia: Codon 43 (TTC>-TC or TTC>T-C)

Detection of a Thalassemic α-Chain Variant (Hemoglobin Groene Hart) by Reversed-Phase Liquid Chromatography

Two New Hemoglobin Variants: Hb Aix-Les-Bains [β5(A2)Pro→Leu; HBB:c.17 C>T] and Hb Dubai [α122(H5)His→Leu (α2); HBA2:c.368 A>T]

THROMBOTIC EVENTS IN COMPOUND HETEROZYGOTES FOR A HIGH AFFINITY HEMOGLOBIN VARIANT: Hb MILLEDGEVILLE [α44(CE2)Pro→Leu (α2)] AND FACTOR V LEIDEN

Two New δ-Globin Gene Variants: Hb A2-Saint-Etienne [δ14(A11)Leu→Pro (HBD: c.44T>C)] and Hb A2-Marseille [δ22(B4) Ala→Lys (HBD: c.67G>A;68C>A)]

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