Browsing Ciències de la Salut by Author "Iolascon, Achille"

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    • CoDysAn: a telemedicine tool to improve awareness and diagnosis for patients with congenital dyserythropoietic anemia 

      Tornador, Cristian; Sánchez-Prados, Edgar; Cadenas, Beatriz; Russo, Roberta; Venturi, Veronica; Andolfo, Immacolata; Hernández-Rodriguez, Ines; Iolascon, Achille; Sánchez, Mayka (Frontiers in Physiology, 2019)
      Congenital Dyserythropoietic Anemia (CDA) is a heterogeneous group of hematological disorders characterized by chronic hyporegenerative anemia and distinct morphological abnormalities of erythroid ...

    • Functional and clinical impact of novel Tmprss6 variants in iron-refractory iron-deficiency anemia patients and genotype–phenotype studies 

      De Falco, Luigia; Silvestri, Laura; Kannengiesser, Caroline; Morán, Erica; Oudin, Claire; Rausa, Marco; Bruno, Mariasole; Aranda, Jessica; Argiles, Bienvenida; Yenicesu, Idil; Falcon-Rodriguez, Maria; Yilmaz-Keskin, Ebru; Kocak, Ulker; Beaumont, Carole; Camaschella, Clara; Iolascon, Achille; Grandchamp, Bernard; Sanchez, Mayka (Human Mutation, 2014)
      Iron-refractory iron-deficiency anemia (IRIDA) is a rare autosomal-recessive disorder characterized by hypochromic microcytic anemia, low transferrin saturation, and inappropriate high levels of the ...

    • Iron refractory iron deficiency anemia 

      De Falco, Luigia; Sanchez, Mayka; Silvestri, Laura; Kannengiesser, Caroline; Muckenthaler, Martina U.; Iolascon, Achille; Gouya, Laurent; Camaschella, Clara; Beaumont, Carole (Haematologica, 2013)
      Iron refractory iron deficiency anemia is a hereditary recessive anemia due to a defect in the TMPRSS6In vitro gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an ...

    • The european hematology association roadmap for european hematology research: a consensus document 

      Engert, Andreas; Balduini, Carlo; Brand, Anneke; Coiffier, Bertrand; Cordonnier, Catherine; Döhner, Hartmut; Duyvené de Wit, Thom; Eichinger, Sabine; Fibbe, Willem; Green, Tony; De Haas, Fleur; Iolascon, Achille; Jaffredo, Thierry; Rodeghiero, Francesco; Salles, Gilles; Schuringa, Jan Jacob; EHA Roadmap for European Hematology Research, (Mayka Sanchez) (Haematologica, 2016)
      The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical ...

    • The use of next-generation sequencing in the diagnosis of rare inherited anaemias: a joint BSH/EHA good practice paper 

      Roy, Noémi B. A.; Da Costa, Lydie; Russo, Roberta; Bianchi, Paola; Mañú-Pereira, Maria del Mar; Fermo, Elisa; Andolfo, Immacolata; Clark, Barnaby; Proven, Melanie; Sanchez-Fernandez, Mayka; Van Wijk, Richard; Van der Zwaag, Bert; Layton, Mark; Rees, David; Iolascon, Achille; British Society for Haematology/ European Hematology Association (British Journal of Haematology, 2022)
      The British Society for Haematology (BSH) produces Good Practice Papers to recommend good practice in areas where there is a limited evidence base but for which a degree of consensus or uniformity is ...