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A newly identified ferritin L‐subunit variant results in increased proteasomal subunit degradation, impaired complex assembly, and severe hypoferritinemia.
- Published in:
- American Journal of Hematology, 2024, v. 99, n. 1, p. 12, doi. 10.1002/ajh.27124
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- Publication type:
- Article
The pivotal role of HbA1c assay to detect hemoglobinopathies: A 5‐year observational retrospective study in the population of Southern France.
- Published in:
- Health Science Reports, 2023, v. 6, n. 7, p. 1, doi. 10.1002/hsr2.1270
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- Publication type:
- Article
Homozygosity for the hyperunstable hemoglobin variant Hb Agrinio (HBA2:c.89T>C) leads to severe antenatal anemia: Eight new cases in three families.
- Published in:
- American Journal of Hematology, 2022, v. 97, n. 11, p. E393, doi. 10.1002/ajh.26687
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- Publication type:
- Article
Comparison of Sebia Capillarys 3-OCTA with the Tosoh Bioscience HLC<sup>®</sup>-723G8 method for A1C testing with focus on analytical interferences and variant detection.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2022, v. 60, n. 9, p. e216, doi. 10.1515/cclm-2022-0462
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- Publication type:
- Article
Importance of Sequencing HBA1 , HBA2 and HBB Genes to Confirm the Diagnosis of High Oxygen Affinity Hemoglobin.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 132, doi. 10.3390/genes13010132
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- Publication type:
- Article
L'hepcidine : caractéristiques immunoanalytiques.
- Published in:
- Annales de Biologie Clinique, 2018, v. 76, n. 6, p. 705, doi. 10.1684/abc.2018.1382
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- Publication type:
- Article
Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.
- Published in:
- European Journal of Haematology, 2018, v. 101, n. 4, p. 566, doi. 10.1111/ejh.13135
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- Publication type:
- Article
Apport du dosage de l'hepcidine pour le diagnostic et le suivi de pathologies associées à une anémie.
- Published in:
- Annales de Biologie Clinique, 2017, v. 75, n. 1, p. 9, doi. 10.1684/abc.2016.1208
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- Publication type:
- Article
Évaluation de la démarche diagnostique des hémoglobines hyperaffines: expérience franco-belge et revue de la littérature.
- Published in:
- Annales de Biologie Clinique, 2017, v. 75, n. 1, p. 39, doi. 10.1684/abc.2016.1204
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- Publication type:
- Article
The role of genetic factors in patients with hepatocellular carcinoma and iron overload - a prospective series of 234 patients.
- Published in:
- Liver International, 2016, v. 36, n. 5, p. 746, doi. 10.1111/liv.12984
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- Publication type:
- Article
Comparison of Arkray/ELITech ADAMS HA-8180V® with Bio-Rad Variant,<sup>TM</sup>II Turbo2.0® and Tosoh Bioscience HLC®-723G8 for HbA1c Determination.
- Published in:
- Journal of Clinical Laboratory Analysis, 2014, v. 28, n. 6, p. 428, doi. 10.1002/jcla.21705
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- Publication type:
- Article
Comparison of Arkray/ELITech ADAMS HA-8180V with Bio-Rad Variant, II Turbo2.0 and Tosoh Bioscience HLC-723G8 for HbA1c determination.
- Published in:
- 2014
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- Publication type:
- journal article
ENERCA: e-learning platform.
- Published in:
- Thalassemia Reports, 2014, v. 4, n. 3, p. 92, doi. 10.4081/thal.2014.4880
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- Publication type:
- Article
Haemoglobinopathies in Europe: health & migration policy perspectives.
- Published in:
- 2014
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- Publication type:
- journal article
Variable age of onset and clinical severity in transferrin receptor 2 related haemochromatosis: novel observations.
- Published in:
- British Journal of Haematology, 2013, v. 162, n. 2, p. 278, doi. 10.1111/bjh.12350
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- Publication type:
- Article
Porphyria Cutanea Tarda and Spherocytosis: A Non-random Association?
- Published in:
- Acta Dermato-Venereologica, 2013, v. 93, n. 3, p. 377, doi. 10.2340/00015555-1493
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- Publication type:
- Article
Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity.
- Published in:
- Human Mutation, 2012, v. 33, n. 9, p. 1388, doi. 10.1002/humu.22116
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- Publication type:
- Article
Hemojuvelin and Hepeidin Gene Mutations in Patients with Porphyria Cutanea Tarda from Southern France.
- Published in:
- 2011
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- Publication type:
- Case Study
A novel mutation of the β-globin gene promoter (−102 C>A) and pitfalls in family screening.
- Published in:
- American Journal of Hematology, 2007, v. 82, n. 12, p. 1088, doi. 10.1002/ajh.21000
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- Publication type:
- Article
The Evaluation of Hyperferritinemia: An Updated Strategy Based on Advances in Detecting Genetic Abnormalities.
- Published in:
- American Journal of Gastroenterology (Springer Nature), 2005, v. 100, n. 5, p. 1185, doi. 10.1111/j.1572-0241.2005.40998.x
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- Publication type:
- Article
Four new cases of stomatin-deficient hereditary stomatocytosis syndrome: association of the stomatin-deficient cryohydrocytosis variant with neurological dysfunction.
- Published in:
- British Journal of Haematology, 2004, v. 125, n. 6, p. 796, doi. 10.1111/j.1365-2141.2004.04965.x
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- Publication type:
- Article
No Significant Association between CYP1A2 Polymorphism and Porphyria Cutanea Tarda.
- Published in:
- 2004
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- Publication type:
- Letter
Inherited factor VII deficiency and surgery: clinical data are the best criteria to predict the risk of bleeding.
- Published in:
- British Journal of Haematology, 2002, v. 117, n. 1, p. 172, doi. 10.1046/j.1365-2141.2002.03408.x
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- Publication type:
- Article
Prevalence of HFE mutations in people from North Africa living in southern France.
- Published in:
- British Journal of Haematology, 2001, v. 114, n. 4, p. 914, doi. 10.1046/j.1365-2141.2001.03005.x
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- Publication type:
- Article
Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 2, p. 105
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- Publication type:
- Article
Denaturing gradient gel electrophoresis screening for mutations in the hereditary hyperferritinaemia cataract syndrome.
- Published in:
- British Journal of Haematology, 2001, v. 112, n. 1, p. 51, doi. 10.1046/j.1365-2141.2001.02513.x
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- Publication type:
- Article
Prenatal diagnosis of severe factor vii deficiency using mutation detection and linkage analysis.
- Published in:
- British Journal of Haematology, 2001, v. 112, n. 1, p. 251, doi. 10.1046/j.1365-2141.2001.02497-4.x
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- Publication type:
- Article
Protein truncation test: Detection of severe haemophilia A mutation and analysis of factor VIII transcripts.
- Published in:
- Human Mutation, 1998, v. 11, n. 1, p. 18, doi. 10.1002/(SICI)1098-1004(1998)11:1<18::AID-HUMU3>3.0.CO;2-H
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- Publication type:
- Article
A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a Southern French patient.
- Published in:
- Human Mutation, 1994, v. 3, n. 2, p. 156, doi. 10.1002/humu.1380030211
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- Publication type:
- Article
Potential co-existence of haemophilia A and B carrier status in two sisters.
- Published in:
- 1992
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- Publication type:
- case study