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P1499: GENETIC FACTORS OF IRON OVERLOAD IN HEREDITARY SPHEROCYTOSIS

HemaSphere, 2023-08, Vol.7 (S3), p.e81244e8-n/a

2023

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Serious Ivermectin Toxicity and Human ABCB1 Nonsense Mutations

The New England journal of medicine, 2020-08, Vol.383 (8), p.787-789

2020

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A case of inter-assay HbA1c discrepancy due to Hemoglobin G-Copenhagen

Clinica chimica acta, 2022-10, Vol.535, p.27-29

2022

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A newly identified ferritin L‐subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia

American journal of hematology, 2024-01, Vol.99 (1), p.12-20

2024

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A simple clinical score to promote and enhance ferroportin disease screening

Journal of hepatology, 2022-03, Vol.76 (3), p.568-576

2022

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GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata

American journal of medical genetics. Part A, 2022-01, Vol.188 (1), p.314-318

2022

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The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance

Haematologica (Roma), 2010-04, Vol.95 (4), p.551-556

2010

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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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Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis

European journal of haematology, 2018-10, Vol.101 (4), p.566-569

2018

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Hepcidin: immunoanalytic characteristics

Annales de biologie clinique (Paris), 2018-12, Vol.76 (6), p.705-715

2018

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The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients

Liver international, 2016-05, Vol.36 (5), p.746-754

2016

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Added value of hepcidin quantification for the diagnosis and follow-up of anemia-related diseases

Annales de biologie clinique (Paris), 2017-02, Vol.75 (1), p.9-18

2017

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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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Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype

Haematologica (Roma), 2013-04, Vol.98 (4), p.e42-e43

2013

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HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload

Haematologica (Roma), 2010-04, Vol.95 (4), p.687-688

2010

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Global Sequencing Approach for Characterizing the Molecular Background of Hereditary Iron Disorders

Clinical chemistry (Baltimore, Md.), 2007-12, Vol.53 (12), p.2060-2069

2007

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Porphyria cutanea tarda and spherocytosis: a non-random association?

Acta dermato-venereologica, 2013-01, Vol.93 (3), p.377-378

2013

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Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations

British journal of haematology, 2013-07, Vol.162 (2), p.278-281

2013

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Absence of Functional Mutations in the Ferroportin-encoding SLC40A1 Gene in Porphyria Cutanea Tarda: A Series of 37 Cases from Southern France

Acta dermato-venereologica, 2011-06, Vol.91 (4), p.467-467

2011

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Unliganded and Liganded Estrogen Receptors Protect against Cancer Invasion via Different Mechanisms

Molecular endocrinology (Baltimore, Md.), 2000-07, Vol.14 (7), p.999-1009

2000

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Hemojuvelin and Hepcidin Gene Mutations in Patients with Porphyria Cutanea Tarda from Southern France

Acta dermato-venereologica, 2011, Vol.91 (1), p.66-67

2011

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Letrozole sensitizes breast cancer cells to ionizing radiation

Breast cancer research : BCR, 2005-01, Vol.7 (1), p.R156-R163, Article R156

2005

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Iron Overload in C282Y Heterozygotes: Identification of New Rare HFE Gene Mutants and a Step Strategy for Diagnosis

Blood, 2008-11, Vol.112 (11), p.1859-1859

2008

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Estrogens and epithelial ovarian cancer

Gynecologic oncology, 2004-07, Vol.94 (1), p.25-32

2004

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The Southern French Registry of Genetic Hemochromatosis, a Tool for Determination of Clinical Prevalence and Genotype Penetrance of the Disorder

Blood, 2009-11, Vol.114 (22), p.4055-4055

2009

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P1499: GENETIC FACTORS OF IRON OVERLOAD IN HEREDITARY SPHEROCYTOSIS

Serious Ivermectin Toxicity and Human ABCB1 Nonsense Mutations

A case of inter-assay HbA1c discrepancy due to Hemoglobin G-Copenhagen

A newly identified ferritin L‐subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia

A simple clinical score to promote and enhance ferroportin disease screening

GGCX‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata

The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance

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

Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis

Hepcidin: immunoanalytic characteristics

The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients

Added value of hepcidin quantification for the diagnosis and follow-up of anemia-related diseases

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

Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype

HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload

Global Sequencing Approach for Characterizing the Molecular Background of Hereditary Iron Disorders

Porphyria cutanea tarda and spherocytosis: a non-random association?

Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations

Absence of Functional Mutations in the Ferroportin-encoding SLC40A1 Gene in Porphyria Cutanea Tarda: A Series of 37 Cases from Southern France

Unliganded and Liganded Estrogen Receptors Protect against Cancer Invasion via Different Mechanisms

Hemojuvelin and Hepcidin Gene Mutations in Patients with Porphyria Cutanea Tarda from Southern France

Letrozole sensitizes breast cancer cells to ionizing radiation

Iron Overload in C282Y Heterozygotes: Identification of New Rare HFE Gene Mutants and a Step Strategy for Diagnosis

Estrogens and epithelial ovarian cancer

The Southern French Registry of Genetic Hemochromatosis, a Tool for Determination of Clinical Prevalence and Genotype Penetrance of the Disorder

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