Browsing Ciències de la Salut by Author "Tornador, Cristian"

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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 ...

    • L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases 

      Cadenas, Beatriz; Fita-Torró, Josep; Bermúdez-Cortés, Mar; Hernandez-Rodriguez, Inés; Fuster, José Luis; Llinares, María Esther; Galera, Ana María; Lee Romero, Julia; Pérez-Montero, Santiago; Tornador, Cristian; Sanchez, Mayka (Pharmaceuticals, 2019)
      Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin ...

    • Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III 

      Hernández, Gonzalo; Romero-Cortadellas, Lídia; Ferrer-Cortès, Xènia; Venturi, Veronica; Dessy-Rodriguez, Mercedes; Olivella, Mireia; Husami, Ammar; Pérez De Soto, Concepción; Morales-Camacho, Rosario M.; Villegas, Ana; González-Fernández, Fernando-Ataulfo; Morado, Marta; Kalfa, Theodosia A.; Quintana-Bustamante, Oscar; Pérez-Montero, Santiago; Tornador, Cristian; Segovia, Jose-Carlos; Sánchez, Mayka (Haematologica, 2023)
      Congenital dyserythropoietic anemia type III (CDA III) is one of the rarest types of CDA. The autosomal dominant form of CDA III, is due to mono-allelic mutations in the KIF23 gene (MIM:105600); two ...

    • New cases and mutations in SEC23B gene causing congenital dyserythropoietic anemia type II 

      Mara Musri, Melina; Venturi, Veronica; Ferrer-Cortès, Xènia; Romero-Cortadellas, Lídia; Hernández, Gonzalo; Leoz, Pilar; Ricard Andrés, María Pilar; Morado, Marta; Fernández Valle, María del Carmen; Beneitez Pastor, David; Ortuño Cabrero, Ana; Moreno Gamiz, Maite; Senent Peris, Leonor; Perez-Valencia, Amanda Isabel; Pérez-Montero, Santiago; Tornador, Cristian; Sánchez, Mayka (International Journal of Molecular Sciences, 2023)
      Congenital dyserythropoietic anemia type II (CDA II) is an inherited autosomal recessive blood disorder which belongs to the wide group of ineffective erythropoiesis conditions. It is characterized by ...

    • New mutations in HFE2 and TFR2 genes causing non HFE-related hereditary hemochromatosis 

      Hernández, Gonzalo; Ferrer-Cortès, Xenia; Venturi, Veronica; Musri, Melina; Floor Pilquil, Martin; Muñoz Torres, Pau Marc; Hernandez Rodríguez, Ines; Ruiz Mínguez, Maria Àngels; Kelleher, Nicholas J.; Pelucchi, Sara; Piperno, Alberto; Plensa Alberca, Esther; Gener Ricós, Georgina; Cañamero Giró, Eloi; Pérez-Montero, Santiago; Tornador, Cristian; Villà-Freixa, Jordi; Sánchez, Mayka (Genes, 2021)
      Hereditary hemochromatosis (HH) is an iron metabolism disease clinically characterized by excessive iron deposition in parenchymal organs such as liver, heart, pancreas, and joints. It is caused by ...