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Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants

Haematologica (Roma), 2011-04, Vol.96 (4), p.507-514

2011

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Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl

Haematologica (Roma), 2007-03, Vol.92 (3), p.421-422

2007

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JAK2 allele burden is correlated with a risk of venous but not arterial thrombosis

Thrombosis research, 2022-03, Vol.211, p.1-5

2022

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Intragenic deletions in SPTB are associated with hereditary spherocytosis: Series of 12 cases

British journal of haematology, 2024-08

2024

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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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New intragenic rearrangements in non-Finnish MULIBREY nanism

European journal of human genetics : EJHG, 2018, Vol.26 (Suppl 1)

2018

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New intragenic rearrangements in non‐Finnish mulibrey nanism

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2782-2788

2017

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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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Identification of a Point Mutation in Position – 83 (G>A) of the β Globin Gene Promoter and the Influence of Globin Genes Mutation on the HbA2 Level

Blood, 2008-11, Vol.112 (11), p.5422-5422

2008

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Transient aplastic crisis as presentation of a previously unknown G6PD deficiency with iron overload

British journal of haematology, 2011-08, Vol.154 (3), p.288-288

2011

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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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Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload

Journal of hepatology, 2003-08, Vol.39 (2), p.286-289

2003

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Clinical Features for Heterozygosity of the Common β Globin Gene Frameshift 41/42 Mutation: Identification and Properties of Hb Salouël (β[Phe41Leu;Val59X])

Blood, 2008-11, Vol.112 (11), p.4794-4794

2008

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Clinical Features for Heterozygosity of the Common β Globin Gene Frameshift 41/42 Mutation: Identification and Properties of Hb Salouël (β[Phe41Leu;Val59X])

Blood, 2008-11, Vol.112 (11), p.4794-4794

2008

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unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1

Human mutation, 2008, Vol.29 (1), p.206-206

2008

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A Novel β-Thalassemic Allele Due to a Two Nucleotide Deletion: β76 (−GC)

Hemoglobin, 2007, Vol.31 (1), p.31-37

2007

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Arbres décisionnels pour le diagnostic et la caractérisation moléculaire des hémoglobinopathies

Annales de biologie clinique (Paris), 2010-07, Vol.68 (4), p.455-464

2010

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Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies

Annales de biologie clinique (Paris), 2010-07, Vol.68 (4), p.455-464

2010

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A novel beta-Thalassemic allele due to a two nucleotide deletion: beta76 (-GC)

Hemoglobin, 2007, Vol.31 (1), p.31-37

2007

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First Identification of a Point Mutation at Position −83 (G>A) of the β-Globin Gene Promoter

Hemoglobin, 2009, Vol.33 (3-4), p.274-278

2009

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Evaluation of Inherited Prothrombotic Risk Factors in Children with Acute Lymphoblastic Leukemia

Blood, 2007-11, Vol.110 (11), p.3953-3953

2007

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Des génotypes rouillés

M.S. Médecine sciences, 2001, Vol.17 (6-7), p.753

2001

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Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl

Haematologica, 2007, Vol.92 (3), p.421-422

2007

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Iron overload in HFE C282Y heterozygotes at first genetic testing: a strategy for identifying rare HFE variants

Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl

JAK2 allele burden is correlated with a risk of venous but not arterial thrombosis

Intragenic deletions in SPTB are associated with hereditary spherocytosis: Series of 12 cases

Click-Crosslinked Injectable Gelatin Hydrogels

New intragenic rearrangements in non-Finnish MULIBREY nanism

New intragenic rearrangements in non‐Finnish mulibrey nanism

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

Identification of a Point Mutation in Position – 83 (G>A) of the β Globin Gene Promoter and the Influence of Globin Genes Mutation on the HbA2 Level

Transient aplastic crisis as presentation of a previously unknown G6PD deficiency with iron overload

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

Novel mutation in ferroportin 1 gene is associated with autosomal dominant iron overload

Clinical Features for Heterozygosity of the Common β Globin Gene Frameshift 41/42 Mutation: Identification and Properties of Hb Salouël (β[Phe41Leu;Val59X])

Clinical Features for Heterozygosity of the Common β Globin Gene Frameshift 41/42 Mutation: Identification and Properties of Hb Salouël (β[Phe41Leu;Val59X])

unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1

A Novel β-Thalassemic Allele Due to a Two Nucleotide Deletion: β76 (−GC)

Arbres décisionnels pour le diagnostic et la caractérisation moléculaire des hémoglobinopathies

Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies

A novel beta-Thalassemic allele due to a two nucleotide deletion: beta76 (-GC)

First Identification of a Point Mutation at Position −83 (G>A) of the β-Globin Gene Promoter

Evaluation of Inherited Prothrombotic Risk Factors in Children with Acute Lymphoblastic Leukemia

Des génotypes rouillés

Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl

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