E. Cadet

发表

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

B. Grandchamp, K. Lassoued, S. Cunat, 2011, Haematologica.

Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?

C. Julier, K. Robson, J. Rochette, 2005, Journal of Medical Genetics.

A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis

J. J. Pointon, J. Emery, Jennifer J. Pointon, 2003, Journal of internal medicine.

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

J. Marolleau, M. Sevestre, S. Soudet, 2022, Thrombosis research.

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

S. Cunat, K. Robson, J. Rochette, 2007, Haematologica.

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

C. Ged, C. Oudin, C. Férec, 2014, Human molecular genetics.

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

P. Fergelot, J. L. Le Gall, P. Brissot, 2003, Journal of hepatology.

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

J. Rochette, E. Cadet, K. Foulon, 2007 .

[Flowcharts for the diagnosis and the molecular characterization of hemoglobinopathies].

J. Elion, P. Joly, J. Rochette, 2010, Annales de Biologie Clinique.

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

J. Rochette, J. Claisse, E. Cadet, 2009, Hemoglobin.

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

J. Rochette, E. Cadet, K. Foulon, 2007, Hemoglobin.

New intragenic rearrangements in non‐Finnish mulibrey nanism

C. Vincent‐Delorme, J. Rochette, M. Mathieu-Dramard, 2017, American journal of medical genetics. Part A.

Recent advances in understanding haemochromatosis: a transition state

Jennifer J. Pointon, V. Viprakasit, K. Robson, 2004, Journal of Medical Genetics.

Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

R. Chapman, Jennifer J. Pointon, V. Viprakasit, 2003, Human molecular genetics.

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading

M. Worwood, Jennifer J. Pointon, K. Robson, 2004, Journal of Medical Genetics.

An 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

D. Case, M. Goossens, F. Dupradeau, 2008, Human mutation.

Antibodies directed against annexin A2 and obstetric morbidity.

J. Mazière, A. Smail, P. Duhaut, 2016, Journal of reproductive immunology.

Genotypic and phenotypic similarity in hafnia alvei enterobacter hafniae

D. J. Brenner, G. R. Fanning, F. Hickman, 1976 .

Hyperhomocysteinaemia, folate and vitamin B12 in unsupplemented haemodialysis patients: effect of oral therapy with folic acid and vitamin B12.

J. Rochette, B. Tribout, P. Bataille, 2002, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Mutations in the hepcidin gene HAMP and the hemojuvelin gene

Jennifer J. Pointon, V. Viprakasit, K. Robson, 2004 .

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

P. Joly, J. Rochette, J. Vannier, 2016, Hemoglobin.

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

S. Thein, J. Rochette, B. Clark, 2011, British Journal of Haematology.

DIAGNOSIS AND MANAGEMENT OF HAEMOCHROMATOSIS SINCE THE DISCOVERY OF THE HFE GENE: A EUROPEAN EXPERIENCE

Robson, P. Gasparini, C. Patch, 2000, British journal of haematology.