Search Results - "Mosser, Annick"

Ferroportin Diseases: Functional Studies, a Link Between Genetic and Clinical Phenotype by Détivaud, Lénaïck, Island, Marie-Laure, Jouanolle, Anne-Marie, Ropert, Martine, Bardou-Jacquet, Edouard, Le Lan, Caroline, Mosser, Annick, Leroyer, Patricia, Deugnier, Yves, David, Véronique, Brissot, Pierre, Loréal, Olivier

“…ABSTRACT Ferroportin (FPN) mediates iron export from cells and this function is modulated by serum hepcidin. Mutations in the FPN gene (SLC40A1) lead to…”
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Sex and Acquired Cofactors Determine Phenotypes of Ferroportin Disease by Le Lan, Caroline, Mosser, Annick, Ropert, Martine, Detivaud, Lénaïck, Loustaud–Ratti, Véronique, Vital–Durand, Denis, Roget, Laurent, Bardou–Jacquet, Edouard, Turlin, Bruno, David, Véronique, Loréal, Olivier, Deugnier, Yves, Brissot, Pierre, Jouanolle, Anne–Marie

“…Background & Aims Ferroportin disease is characterized by iron overload. It has an autosomal-dominant pattern of inheritance and has been associated with…”
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A new missense mutation in the L ferritin coding sequence associated with elevated levels of glycosylated ferritin in serum and absence of iron overload by 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

“…1 AP-HP, Service de Génétique et Biochimie hormonale, Hôpital Bichat Claude Bernard, Paris, France, Université Paris Diderot, Paris; 2 Laboratoire de Génétique…”
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A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis by Island, Marie-Laure, Jouanolle, Anne-Marie, Mosser, Annick, Deugnier, Yves, David, Veronique, Brissot, Pierre, Loreal, Olivier

“…1 Inserm U522, IFR140; University of Rennes 1 2 Molecular Genetic Department 3 French National Centre for Rare Genetic Iron Overload Diseases 4 Liver Disease…”
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HAMP promoter mutation nc.-153 C>T in 785 HEIRS Study participants: author reply by Loreal, O., Jouanolle, A.-M., Island, M.-L., Mosser, A., Deugnier, Y., David, V., Brissot, P.

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Targeted high-throughput sequencing for the routine diagnosis of somatic theranostic mutations on formalin-fixed, paraffin-embedded FFPE tumor samples: A prospective study of 3366 cancer samples by Mosser, Jean, Lespagnol, Alexandra, Aliouat, Amyra, Mosser, Annick, Gourdet, Helena, Moron, Gaelle, Guenot, Frederique, Chaplais, Cecile, de Tayrac, Marie

“…Abstract only…”
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A new mutation in the hepcidin promoter impairs its bone morphogenetic protein response and contributes to a severe phenotype in HFE related hemochromatosis by ISLAND, Marie-Laure, JOUANOLLE, Anne-Marie, MOSSER, Annick, DEUGNIER, Yves, DAVID, Véronique, BRISSOT, Pierre, LOREAL, Olivier

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

“…Most cases of genetic hemochromatosis (GH) are associated with the HFE C282Y/C282Y (p.Cys282Tyr/p.Cys282Tyr) genotype in white populations. The symptoms…”
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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 by Bardou-Jacquet, Edouard, Island, Marie-Laure, Jouanolle, Anne-Marie, Détivaud, Lénaïck, Fatih, Nadia, Ropert, Martine, Brissot, Eolia, Mosser, Annick, Maisonneuve, Hervé, Brissot, Pierre, Loréal, Olivier

“…DMT1 is a transmembrane iron transporter involved in iron duodenal absorption and cellular iron uptake. Mutations in the human SLC11A2 gene coding DMT1 lead to…”
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Molecular diagnosis of genetic iron-overload disorders by Brissot, Pierre, Bardou-Jacquet, Edouard, Troadec, Marie-Bérengère, Mosser, Annick, Island, Marie-Laure, Detivaud, Lénaïck, Loréal, Olivier, Jouanolle, Anne-Marie

“…Genetic iron overload has long been confined to the picture of classical hemochromatosis related to the HFE C282Y mutation (type 1 hemochromatosis). C282Y…”
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NGS panel V1.1 for the routine deep sequencing-based diagnostic of somatic hotspot theranostic mutations on FFPE tumours: A prospective study of 500 cancer samples by Lespagnol, A., Ndiaye, B., Mosser, Annick, Chaplais, C., Gourdet, H., Guenot, Frédérique, Bouvet, Régis, Moron, G., Mosser, J., de Tayrac, M.

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Pathophysiology and genetics of classic HFE (type 1) hemochromatosis by Loréal, Olivier, Ropert, Martine, Mosser, Annick, Déhais, Valérie, Deugnier, Yves, David, Véronique, Brissot, Pierre, Jouanolle, Anne-Marie

“…Hereditary type 1 HFE hemochromatosis is associated with homozygosity for the p.Cys282Tyr mutation of the HFE gene (C282Y mutation). The p.Cys282Tyr mutation…”
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Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results by Coppin, Hélène, Totaro, Angela, Gasparini, Paolo, Worwood, Mark, Darke, Chris, Rochette, Jacques, Shearman, Jeremy D, Mosser, Annick, Elsey, Terence S, Dooley, James S, David, Véronique, Vandwalle, Jean Luc, Ryan, Eleanor, Borot, Nicolas, Roetto, Antonella, Robson, Kathryn J.H, Crowe, John, Walker, Ann P, Cox, Timothy M, Clare, Michael, Kelly, Alison, Roth, Marie-Paule, Jouanolle, Anne Marie, Bomford, Adrian, Camaschella, Clara, Wallace, Daniel F, Le Gall, Jean-Yves, Pointon, Jennifer J, Halsall, David J, Merryweather-Clarke, Alison T, Saeb-Parsy, Kasra

“…Two recent reports have described a polymorphism in HFE in the binding region of a PCR Primer Widely used in diagnosis of hereditary haemochromatosis (HHC),…”
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Bilinguisme et troubles du langage chez l'enfant : étude rétrospective by Kohl, Magali, Beauquier-Maccotta, Bérengère, Bourgeois, Marie, Clouard, Chantal, Donde, Stéphanie, Mosser, Annick, Pinot, Pascale, Rittori, Guy, Vaivre-Douret, Laurence, Golse, Bernard, Robel, Laurence

“…BILINGUISME ET TROUBLES DU LANGAGE CHEZ L’ENFANT : ETUDE RETROSPECTIVE Si dans bien des cas le bilinguisme constitue un atout incontestable que l’on doit…”
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Physiopathologie et génétique de l'hémochromatose HFE de type 1 by Loréal, Olivier, Ropert, Martine, Mosser, Annick, Déhais, Valérie, Deugnier, Yves, David, Véronique, Brissot, Pierre, Jouanolle, Anne-Marie

“…Hereditary type 1 HFE hemochromatosis is associated with homozygosity for the p.Cys282Tyr mutation of the HFE gene (C282Y mutation). The p.Cys282Tyr mutation…”
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Pathophysiology and genetics of classic HFE (type 1) hemochromatosis by Loreal, O, Ropert, M, Mosser, A, Dehais, V, Deugnier, Y, David, V, Brissot, P, Jouanolle, A-M

“…Hereditary type 1 HFE hemochromatosis is associated with homozy-gosity for the p.Cys282Tyr mutation of the HFE gene (C282Y mutation). The p.Cys282Tyr mutation…”
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