Insulin resistance–associated hepatic iron overload von Mendler, Michel-Henry, Turlin, Bruno, Moirand, Romain, Jouanolle, Anne-Marie, Sapey, Thierry, Guyader, Dominique, le Gall, Jean-Yves, Brissot, Pierre, David, Véronique, Deugnier, Yves

Volltext

Phenotypic expression of HFE mutations: A French study of 1110 unrelated iron-overloaded patients and relatives von Moirand, Romain, Jouanolle, Anne-Marie, Brissot, Pierre, Le Gall, Jean-Yves, David, Véronique, Deugnier, Yves

Volltext

Haemochromatosis and HLA-H von Chauvel, Bruno, Gicquel, Isabelle, Jézéquel, Pascal, Campion, Marie Laure, Fergelot, Patricia, Le Gall, Jean-Yves, David, Véronique, Yaouanq, Jacqueline, Jouanolle, Anne Marie, Carn, Gwenaelle, Andrieux, Nancy, Gandon, Gwenola, Blayau, Martine, Mosser, Jean, Bouric, Pascale

Volltext

A candidate gene for hemochromatosis : frequency of the C282Y and H63D mutations von JOUANOLLE, A. M, FERGELOT, P, GANDON, G, YAOUANQ, J, LE GALL, J. Y, DAVID, V

Volltext

A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis von Island, Marie-Laure, Jouanolle, Anne-Marie, Mosser, Annick, Deugnier, Yves, David, Veronique, Brissot, Pierre, Loreal, Olivier

Volltext

The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading von Livesey, K J, Wimhurst, V L C, Carter, K, Worwood, M, Cadet, E, Rochette, J, Roberts, A G, Pointon, J J, Merryweather-Clarke, A T, Bassett, M L, Jouanolle, A-M, Mosser, A, David, V, Poulton, J, Robson, K J H

Volltext

A genotypic study of 217 unrelated probands diagnosed as “genetic hemochromatosis” on “classical” phenotypic criteria von Brissot, Pierre, Moirand, Romain, Jouanolle, Anne-Marie, Guyader, Dominique, Gall, Jean-Yves Le, Deugnier, Yves, David, Véronique

Volltext

Diagnostic d’une surcharge hépatique en fer von Deugnier, Y., Bardou-Jacquet, E., Lainé, F., Gandon, Y., Jouanolle, A.-M.

Volltext

Métabolisme du fer et outils diagnostiques pour le clinicien von Loréal, O., Bardou-Jacquet, E., Jouanolle, A.-M., Gandon, Y., Deugnier, Y., Brissot, P., Ropert, M.

Volltext

Haemochromatosis Cys282Tyr mutation in pyridoxine-responsive sideroblastic anaemia von Yaouanq, J, Grosbois, B, Jouanolle, AM, Goasguen, J, Leblay, R

Volltext

Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis von Pinson, S, Yaouanq, J, Jouanolle, A M, Turlin, B, Plauchu, H

Volltext

Localization of seven new genes around the HLA-A locus von Kahloun, Abdel El, Chauvel, Bruno, Mauvieux, Valérie, Dorval, Ian, Jouanolle, Anne-Marie, Gicquel, Isabelle, Le Gall, Jean-Yves, David, Véronique

Volltext

A novel coding sequence belonging to a new multicopy gene family mapping within the human MHC class I region von VERNET, C, RIBOUCHON, M.-T, CHIMINI, G, JOUANOLLE, A.-M, SIDIBE, I, PONTAROTTI, P

Volltext

Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE) von YAOUANQ, J, PERICHON, M, MOIRAND, R, NOUEL, O, LE GALL, J. Y, FEINGOLD, J, DAVID, V, CHORNEY, M, PONTAROTTI, P, LE TREUT, A, ABDEL EL KAHLOUN, MAUVIEUX, V, BLAYAU, M, JOUANOLLE, A. M, CHAUVEL, B

Volltext

Common Variants in the BMP2, BMP4, and HJV Genes of the Hepcidin Regulation Pathway Modulate HFE Hemochromatosis Penetrance von Milet, Jacqueline, Déhais, Valérie, Bourgain, Catherine, Jouanolle, Anne Marie, Mosser, Annick, Perrin, Michèle, Morcet, Jeff, Brissot, Pierre, David, Véronique, Deugnier, Yves, Mosser, Jean

Volltext

Linkage disequilibrium and extended haplotypes in the HLA-A to D6S105 region : implications for mapping the hemochromatosis gene (HFE) von GANDON, G, JOUANOLLE, A. M, CHAUVEL, B, MAUVIEUX, V, LE TREUT, A, FEINGOLD, J, LE GALL, J. Y, DAVID, V, YAOUANQ, J

Volltext

Rare HFE variants are the most frequent cause of hemochromatosis in non‐c282y homozygous patients with hemochromatosis von Hamdi‐Rozé, Houda, Beaumont‐Epinette, Marie‐Pascale, Ben Ali, Zeineb, Le Lan, Caroline, Loustaud‐Ratti, Véronique, Causse, Xavier, Loreal, Olivier, Deugnier, Yves, Brissot, Pierre, Jouanolle, Anne‐Marie, Bardou‐Jacquet, Edouard

Volltext

Dinucleotide repeat polymorphism at the D6S510 locus von Gandon, G., Lelaure, V., Pichon, L., Jouanolle, A.M., Gall, J.Y.Le, David, V.

Volltext

Hereditary iron overload von Brissot, P, Bardou-Jacquet, E, Latournerie, M, Ropert-Bouchet, M, Island, M L, Loréal, O, Jouanolle, A-M

Volltext

A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload von Kannengiesser, Caroline, Jouanolle, Anne-Marie, Hetet, Gilles, Mosser, Annick, Muzeau, Francoise, Henry, Dominique, Bardou-Jacquet, Edouard, Mornet, Martine, Brissot, Pierre, Deugnier, Yves, Grandchamp, Bernard, Beaumont, Carole

Volltext