Literature DB >> 23600741

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

Edouard Bardou-Jacquet, Severine Cunat, Marie-Pascale Beaumont-Epinette, Caroline Kannengiesser, Xavier Causse, Sylvie Sauvion, Bruno Pouliquen, Yves Deugnier, Veronique David, Olivier Loréal, Patricia Aguilar-Martinez, Pierre Brissot, Anne-Marie Jouanolle.   

Abstract

Entities:  

Keywords:  haemochromatosis; iron overload; juvenile; transferrin receptor 2

Mesh：

Substances：

Year:  2013        PMID： 23600741     DOI： 10.1111/bjh.12350

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  6 in total

Review 1.  Recent advances in hemochromatosis: a 2015 update : a summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia.

Authors:  Dilum Ekanayake; Clinton Roddick; Lawrie W Powell
Journal:  Hepatol Int       Date:  2015-03-12       Impact factor: 6.047

2.  Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.

Authors:  Ricky Joshi; Maya Shvartsman; Erica Morán; Sergi Lois; Jessica Aranda; Anna Barqué; Xavier de la Cruz; Miquel Bruguera; José Manuel Vagace; Guillermo Gervasini; Cristina Sanz; Mayka Sánchez
Journal:  Mol Genet Genomic Med       Date:  2015-03-06       Impact factor: 2.183

3.  Variability of the transferrin receptor 2 gene in AMD.

Authors:  Daniel Wysokinski; Janusz Blasiak; Mariola Dorecka; Marta Kowalska; Jacek Robaszkiewicz; Elzbieta Pawlowska; Jerzy Szaflik; Jacek Pawel Szaflik
Journal:  Dis Markers       Date:  2014-02-06       Impact factor: 3.434

4.  EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH).

Authors:  Graça Porto; Pierre Brissot; Dorine W Swinkels; Heinz Zoller; Outi Kamarainen; Simon Patton; Isabel Alonso; Michael Morris; Steve Keeney
Journal:  Eur J Hum Genet       Date:  2015-07-08       Impact factor: 4.246

Review 5.  The Functional Versatility of Transferrin Receptor 2 and Its Therapeutic Value.

Authors:  Antonella Roetto; Mariarosa Mezzanotte; Rosa Maria Pellegrino
Journal:  Pharmaceuticals (Basel)       Date:  2018-10-23

6.  New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.

Authors:  Gonzalo Hernández; Xenia Ferrer-Cortès; Veronica Venturi; Melina Musri; Martin Floor Pilquil; Pau Marc Muñoz Torres; Ines Hernandez Rodríguez; Maria Àngels Ruiz Mínguez; Nicholas J Kelleher; Sara Pelucchi; Alberto Piperno; Esther Plensa Alberca; Georgina Gener Ricós; Eloi Cañamero Giró; Santiago Pérez-Montero; Cristian Tornador; Jordi Villà-Freixa; Mayka Sánchez
Journal:  Genes (Basel)       Date:  2021-12-13       Impact factor: 4.096
  6 in total

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