A. Jouanolle

发表

Insulin resistance-associated hepatic iron overload.

J. L. Le Gall, P. Brissot, R. Moirand, 1999, Gastroenterology.

Alpha-L-fucosidase in rat testis during sexual maturity.

M. Blayau, V. Shacoori, G. Leray, 1988, Archives of andrology.

Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE)

P. Pontarotti, B. Chauvel, A. Kahloun, 1994, American journal of human genetics.

Iron disorders of genetic origin: a changing world.

P. Brissot, O. Loréal, E. Bardou-Jacquet, 2011, Trends in molecular medicine.

Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights.

M. Vérin, P. Brissot, Kunihiro Yoshida, 2002, Journal of hepatology.

Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives.

J. L. Le Gall, P. Brissot, R. Moirand, 1999, Gastroenterology.

Gender‐specific phenotypic expression and screening strategies in C282Y‐linked haemochromatosis: a study of 9396 French people

M. Pouchard, J. Mosser, J. L. Le Gall, 2002, British journal of haematology.

A genotypic study of 217 unrelated probands diagnosed as "genetic hemochromatosis" on "classical" phenotypic criteria.

J. L. Le Gall, P. Brissot, R. Moirand, 1999, Journal of hepatology.

Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results

J. J. Pointon, J. Crowe, P. Gasparini, 1999, Nature Genetics.

Localization of seven new genes around the HLA-A locus.

I. Gicquel, J. L. Le Gall, B. Chauvel, 1994, Advances in experimental medicine and biology.

Localization of seven new genes around the HLA-A locus.

I. Gicquel, J. L. Le Gall, B. Chauvel, 1993, Human molecular genetics.

A YAC contig and an STS map spanning at least 3.9 megabasepairs telomeric to HLA-A

J. Mosser, V. David, A. Hampe, 1997, Immunogenetics.

Serum paraoxonase activity and paraoxonase gene polymorphism in type 2 diabetic patients with or without vascular complications.

J. L. Le Gall, J. Poirier, C. Letellier, 2002, Diabetes & metabolism.

Hereditary hypotransferrinemia can lead to elevated transferrin saturation and, when associated to HFE or HAMP mutations, to iron overload.

P. Brissot, O. Loréal, Y. Deugnier, 2015, Blood cells, molecules & diseases.

Biochemical aspects of alpha-L-fucosidase in hepatocellular carcinoma.

P. Brissot, Y. Deugnier, J. Bretagne, 1989, Hepatology.

Biochemical aspects of α‐L‐fucosidase in hepatocellular carcinoma

P. Brissot, Y. Deugnier, J. Bretagne, 1989 .

Diagnosis and treatment of HFE-haemochromatosis

G. Lescoat, P. Brissot, O. Loréal, 2009 .

Clinical and family studies in genetic hemochromatosis: Microsatellite and HFE studies in five atypical families

V. David, J. Legall, P. Adams, 1997, Hepatology.

Molecular Testing in Hemochromatosis

P. Brissot, O. Loréal, A. Jouanolle, 2017 .

Sex and acquired cofactors determine phenotypes of ferroportin disease.

D. Vital-Durand, P. Brissot, O. Loréal, 2011, Gastroenterology.

Molecular diagnosis of genetic iron-overload disorders

P. Brissot, O. Loréal, A. Mosser, 2010, Expert review of molecular diagnostics.

Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans.

C. Beaumont, P. Brissot, D. Valla, 2016, Gastroenterology.

Heterozygous Mutations in BMP 6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans Running title : BMP 6 , gene for moderate hemochromatosis

C. Beaumont, P. Brissot, D. Valla, 2016 .

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 N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload.

P. Brissot, O. Loréal, A. Mosser, 2011, Blood cells, molecules & diseases.

A continuous restriction map from HLA-E to HLA-F. Structural comparison between different HLA-A haplotypes

J. L. Le Gall, P. Pontarotti, V. David, 2004, Immunogenetics.

Decreased cardiovascular and extrahepatic cancer-related mortality in treated patients with mild HFE hemochromatosis.

J. Viel, R. Moirand, D. Guyader, 2015, Journal of hepatology.

Low penetrant hemochromatosis phenotype in eight families: no evidence of modifiers in the MHC region.

P. Fergelot, J. Mosser, J. L. Le Gall, 2001, Blood cells, molecules & diseases.

Polymorphisms in the HFE Gene

J. L. Le Gall, P. Brissot, R. Moirand, 1999, Human Heredity.

Liver iron is a surrogate marker of severe fibrosis in chronic hepatitis C.

P. Brissot, D. Guyader, Anne-Sophie Thirouard, 2007, Journal of hepatology.

[Molecular diagnosis of HFE mutations in routine laboratories. Results of a survey from reference laboratories in France].

C. Ged, B. Grandchamp, J. Rochette, 2012, Annales de biologie clinique.

Anonymous markers located on chromosome 6 in the HLA-A class I region: allelic distribution in genetic haemochromatosis

P. Pontarotti, A. Kahloun, J. Yaouanq, 1992, Human Genetics.

Familial screening for genetic haemochromatosis by means of DNA markers.

J. L. Le Gall, P. Pontarotti, J. Yaouanq, 1992, Journal of medical genetics.

Iron excess treatable by copper supplementation in acquired aceruloplasminemia: a new form of secondary human iron overload?

P. Brissot, S. Belliard, O. Loréal, 2009, Blood.

[The diagnosis of hemochromatosis in the era of the gene].

P. Brissot, R. Moirand, D. Guyader, 1999, Annales d'endocrinologie.

Rare HFE variants are the most frequent cause of hemochromatosis in non‐c282y homozygous patients with hemochromatosis

X. Causse, P. Brissot, H. Hamdi-Rozé, 2016, American journal of hematology.

Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis?

P. Fergelot, J. L. Le Gall, Y. Deugnier, 1998, Annales de genetique.

A new polymorphic probe close to HLA-A.

I. Gicquel, P. Pontarotti, V. David, 1991, Nucleic acids research.

Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis.

S. Pinson, J. Yaouanq, H. Plauchu, 1998, Journal of medical genetics.

A nomogram to predict C282Y hemochromatosis.

S. Chakrabarti, R. Moirand, Y. Deugnier, 2002, The Journal of laboratory and clinical medicine.

Elevated parathyroid hormone 44-68 and osteoarticular changes in patients with genetic hemochromatosis.

P. Brissot, R. Moirand, Y. Deugnier, 1999, Arthritis and rheumatism.

A highly informative dinucleotide repeat polymorphism telomeric to HLA-F

J. Mosser, A. Jouanolle, G. Gandon, 1997, Immunogenetics.

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

X. Causse, P. Brissot, S. Cunat, 2013, British journal of haematology.

HLA class I gene polymorphism in genetic hemochromatosis

R. Fauchet, J. Yaouanq, M. Blayau, 1990, Human Genetics.

Geography of HFE C282Y and H63D mutations.

Jennifer J. Pointon, K. Robson, J. Rochette, 2000, Genetic testing.

A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload

C. Beaumont, P. Brissot, B. Grandchamp, 2009, Haematologica.

Dinucleotide repeat polymorphism at the D6S510 locus.

V. Lelaure, J. L. Le Gall, V. David, 1994, Human molecular genetics.

Non-HFE hemochromatosis: pathophysiological and diagnostic aspects.

P. Brissot, O. Loréal, E. Bardou-Jacquet, 2014, Clinics and research in hepatology and gastroenterology.

A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

Olivier Loréal, P. Brissot, O. Loréal, 2009, Haematologica.

Current approach to hemochromatosis.

P. Brissot, O. Loréal, C. Le Lan, 2008, Blood reviews.

Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance.

J. Mosser, P. Brissot, A. Mosser, 2007, American journal of human genetics.

Genome-wide association study identifies TF as a significant modifier gene of iron metabolism in HFE hemochromatosis.

E. Génin, J. Mosser, C. Férec, 2015, Journal of hepatology.

Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region: implications for mapping the hemochromatosis gene (HFE)

B. Chauvel, J. Yaouanq, J. Feingold, 2004, Human Genetics.

A novel coding sequence belonging to a new multicopy gene family mapping within the human MHC class I region

P. Pontarotti, G. Chimini, I. Sidibé, 2004, Immunogenetics.

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.

Haemochromatosis and HLA–H

P. Fergelot, J. Mosser, I. Gicquel, 1996, Nature Genetics.

Monoclonal anti‐transferrin antibody: A paradigm for better understanding of iron metabolism

P. Brissot, O. Loréal, P. Leroyer, 2015, American journal of hematology.

A candidate gene for hemochromatosis: frequency of the C282Y and H63D mutations

P. Fergelot, J. Yaouanq, V. David, 1997, Human Genetics.

DIAGNOSTIC AND TREATMENT OF INHERITED HAEMOCHROMATOSIS

P. Brissot, O. Loréal, M. Island, 2009 .

[Iron overload and HFE gene].

P. Brissot, R. Moirand, D. Guyader, 1999, Gastroenterologie clinique et biologique.

Ferroportin Diseases: Functional Studies, a Link Between Genetic and Clinical Phenotype

P. Brissot, O. Loréal, A. Mosser, 2013, Human mutation.

HFE mutations in insulin resistance-associated hepatic iron overload.

R. Moirand, A. Guillygomarc’h, Y. Deugnier, 2000, Journal of hepatology.

Dinucleotide repeat polymorphism at the FTHPI locus of chromosome 6.

J. L. Le Gall, M. Blayau, V. David, 1991, Nucleic acids research.

A HindIII RFLP at the FTHP1 locus on chromosome 6

V. Mauvieux, I. Dugast, A. El Kahloun, 1991, Nucleic Acids Res..

HFE based re-evaluation of heterozygous hemochromatosis.

J. L. Le Gall, P. Brissot, R. Moirand, 2002, American journal of medical genetics.

Decreased cardiovascular and extrahepatic cancer-related mortality in treated patients with mild HFE hemochromatosis.

J. Viel, R. Moirand, D. Guyader, 2015, Journal of hepatology.

A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload.

P. Brissot, O. Loréal, A. Mosser, 2011, Blood cells, molecules & diseases.