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SÁNCHEZ FERNÁNDEZ, Mayka

SÁNCHEZ FERNÁNDEZ, Mayka

Professor Agregat o Titular
DEPARTMENT OF BASIC SCIENCIES
Department of Basic Areas
Hereditary Hematology and Iron metabolism

Contact

Tel. +34 932 541 800
Ext. 5263
msanchezfe@uic.es
ORCID
  • Academic training
  • Projects
    • Competitive
    • Non-competitive
  • Publications
    • Articles
    • Book chapters
  • Subjects taught
  • Doctora en Biologia- Genètica
  • Universitat de Barcelona
  • Licenciada en Bioquímica
  • Universitat de Barcelona
  • AVANCES EN DIAGNOSTICO Y TERAPIA PARA ENFERMEDADES HEMATOLOGICAS HEREDITARIAS RARAS (ARETHA)
    PI: Sánchez, M. Start date: 01/01/2022 End date: 31/12/2025
    Financing entity: Ministerio de ciencia e innovación
  • ARETHA: Advances in diagnostic and therapy for rare hereditary haematological diseases (ARETHA, Advances in Rare hErediTary Hematological diseAses)
    PI: Sánchez, M. Start date: 01/09/2022 End date: 31/08/2025
    Financing entity: Ministerio de Ciencia e Innovación (MICINN) Financing entity code: PID2021-122436OB-I00
  • NANOANEMIA-Nanobiosensor multiplexado para el diagnóstico instantáneo y clasificación de la anemia en el punto de atención
    PI: Sánchez, M.; Tornador, C.; Merkoçi, A. Start date: 01/12/2021 End date: 30/11/2024
    Financing entity: Ministerio de Ciencia e Innovación (MICINN) Financing entity code: PLEC2021-007727
  • Nanobiosensor multiplexado para el diagnóstico instantáneo y clasificación de la anemia en el punto de atención (NANOANAEMIA)
    PI: Sánchez, M.; Merkoçi, A.; Tornador, C. Start date: 01/01/2021 End date: 31/12/2023
    Financing entity: Ministerio de ciencia e innovación
  • RETOS COLABORACION-Nuevas aproximaciones para el diagnóstico y tratamiento de la anemia diseritropoyética congénita: Secuenciación masiva y terapia génica
    PI: Sánchez, M.; Tornador, C.; Segovia, J.; Ramirez, J.C. Start date: 01/01/2020 End date: 31/12/2023
    Financing entity: MINISTERIO DE CIENCIA E INNOVACION Financing entity code: RTC2019-007074-1
  • EU project 894737-Advances in the Diagnosis and Gene Therapy of Congenital dyserythropoietic Anemia
    PI: Sánchez, M. Start date: 16/03/2021 End date: 15/05/2023
    Financing entity: European Union Financing entity code: EU project 894737 -MSCA-IF-EF-SE - Society and Enterprise panel
  • NEOTEC-CDTI-Mejoras en el diagnóstico y desarrollo de herramientas moleculares para terapia génica en Anemia diseritropoyética congénita (ADC)
    PI: Sánchez, M.; Tornador, C.; Segovia, J. Start date: 01/01/2020 End date: 31/12/2021
    Financing entity: CDTI; Ministerio de Ciencia e Innovación (MICINN) Financing entity code: SNEO-20191246
  • Advances in new molecular pathways and novel diseases in iron homeostasis (A-IRON, Advances in IRON physiopatology)
    PI: Sánchez, M. Start date: 01/01/2019 End date: 31/12/2021
    Financing entity: Ministerio de ciencia e innovación
  • Advances in new molecular pathways and novel diseases in iron homeostasis (A-IRON)
    PI: Sánchez, M. Start date: 01/01/2019 End date: 31/12/2021
    Financing entity: Ministerio de Ciencia, Innovación y Universidades Financing entity code: RTI2018-101735-B-I00
  • Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias
    PI: Sánchez, M. Start date: 02/03/2017 End date: 01/03/2020
    Financing entity: Fundación Ramón Areces Financing entity code: CIVP18A1857
  • Convenio APU-ADISCON-UIC
    PI: Sánchez, M. Start date: 01/12/2018 End date: 30/11/2023
    Financing entity: Fundación Pablo Ugarte
  • Convenio APU-ADISCON-IJC
    PI: Sánchez, M. Start date: 03/08/2015 End date: 30/11/2018
    Financing entity: Fundación Pablo Ugarte
  • Hemasphere, Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia
    Name: Iolascon, A.; Andolfo, I.; Russo, R.; Sánchez, M.; Busti, F.; Swinkels, D.; Aguilar , P.; Bou, R.; Muckenthaler, M.; Unal , S.; Porto, G.; Ganz, T.; Kattamis, A.; De Franceschi, L.; Cappellini, M.; Munro , M.; Taher, A. Role: Autor Publishing date: 2024
    Vol.: 8 No.: 7
    DOI: https://dx.doi.org/10.1002/hem3.108 ISSN or title: 2572-9241
  • NATURE METABOLISM, Iron accumulation drives fibrosis, senescence and the senescence-associated secretory phenotype
    Name: Maus, M.; López, V.; Mateo, L.; Lafarga, M.; Aguilera, M.; De Lama, E.; Meyer, K.; Sola, A.; Lopez, C.; López, I.; Guasch, M.; Hernandez, F.; Chaib, S.; Rovira, M.; Sánchez, M.; Faner, R.; Agusti, A.; Diéguez, R.; Ortega, S.; Manonelles, A.; Engelhardt, S.; Monteiro, F.; Stephan-Otto, C.; Prats, N.; Albaiceta, G.; Cruzado, J.; Serrano, M. Role: Autor Publishing date: 2023
    Start page: 2111 End page: 2130 Vol.: 5
    DOI: https://dx.doi.org/10.1038/s42255-023-00928-2 ISSN or title: 2522-5812
  • International Journal of Molecular Sciences, New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
    Name: Mara, M.; Venturi, V.; Ferrer, X.; Romero, L.; Hernández Viedma, G.; Leoz, P.; Ricard, M.; Morado, M.; Fernández , M.; Beneitez, D.; Ortuño, A.; Moreno, M.; Senent, L.; Perez-Valencia, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2023
    Vol.: 24 No.: 12
    DOI: https://dx.doi.org/10.3390/ijms24129935 ISSN or title: 1422-0067
  • International Journal of Molecular Sciences, New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
    Name: Mara, M.; Venturi, V.; Ferrer, X.; Romero, L.; Hernandez, G.; Leoz, P.; Ricard, M.; Morado, M.; Fernández, M.; Beneitez, D.; Ortuño, A.; Moreno, M.; Senent, L.; Perez, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2023
    Vol.: 24 No.: 12
    DOI: https://dx.doi.org/10.3390/ijms24129935 ISSN or title: 1422-0067
  • Haematologica-the Hematology journal, Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III
    Name: Hernández Viedma, G.; Romero, L.; Ferrer, X.; Venturi, V.; Dessy, M.; Olivella, M.; Husami, A.; Pérez, C.; Morales, R.; Villegas, A.; González , F.; Morado, M.; Kalfa, T.; Quintana, O.; Pérez-Montero, S.; Tornador, C.; Segovia, J.; Sánchez, M. Role: Autor Publishing date: 2023
    Start page: 581 End page: 587 Vol.: 108 No.: 2
    DOI: https://dx.doi.org/10.3324/haematol.2022.281277 ISSN or title: 0390-6078
  • Health Expectations, Haemochromatosis patients' research priorities: Towards an improved quality of life
    Name: Romero, L.; Venturi, V.; Martín-Sánchez, JC; Kosta, K.; Prince, D.; Butzeck, B.; Porto, G.; Thorm, N.; Sánchez, M. Role: Autor Publishing date: 2023
    DOI: https://dx.doi.org/10.1111/hex.13830 ISSN or title: 1369-7625
  • Haematologica-the Hematology journal, Mutations in the RACGAP1 gene cause autosomal recessive Congenital Dyserythropoietic Anemia type III.
    Name: Hernandez, G.; Romero, L.; Ferrer, X.; Venturi, V.; Dessy, M.; Olivella, M.; Husami, A.; Pérez, C.; Morales, R.; Villegas, A.; González , F.; Morado, M.; Kalfa, T.; Quintana, O.; Pérez-Montero, S.; Tornador, C.; Segovia, J.; Sánchez, M. Role: Autor Publishing date: 2022
    ISSN or title: 0390-6078
  • British Journal of Haematology, The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*
    Name: Sánchez, M. Role: Autor Publishing date: 2022
    Start page: 459 End page: 459 Vol.: 198 No.: 3
    DOI: https://dx.doi.org/10.1111/bjh.18191 ISSN or title: 1365-2141
  • Hemasphere, The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper
    Name: Roy, N.; Da Costa, L.; Russo, R.; Bianchi, P.; Manu-Pereira, M.; Fermo, E.; Andolfo, I.; Clark, B.; Proven, M.; Sánchez, M.; van Wijk, R.; van der Zwaag, B.; Layton, M.; Rees, D.; Iolascon, A. Role: Autor Publishing date: 2022
    Vol.: 6 No.: 6
    DOI: https://dx.doi.org/10.1097/HS9.0000000000000739 ISSN or title: 2572-9241
  • International Journal of Molecular Sciences, New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation
    Name: Romero, L.; Hernández Viedma, G.; Ferrer, X.; Zalba-Jadraque, L.; Fuster, JL.; Bermúdez-Cortés, M.; Galera-Minarro, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2022
    Vol.: 23 No.: 8
    DOI: https://dx.doi.org/10.3390/ijms23084406 ISSN or title: 1422-0067
  • Genes, New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis
    Name: Hernández Viedma, G.; Ferrer, X.; Venturi, V.; Mara, M.; Floor, M.; Munoz-Torres, PM.; Hernández-Rodriguez, I.; Ruiz Mínguez, M.A.; Kelleher, N.J.; Pelucchi, S.; Piperno, A.; Plensa Alberca, E.; Gener Ricós, G.; Cañamero Giró, E.; Pérez-Montero, S.; Tornador, C.; Villà-Freixa, J.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 12 No.: 12
    DOI: https://dx.doi.org/10.3390/genes12121980 ISSN or title: 2073-4425
  • Genes, New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis
    Name: Hernandez, G.; Ferrer, X.; Venturi, V.; Musri, M.; Floor, M.; Munoz-Torres, PM.; Hernández-Rodriguez, I.; Ruiz Mínguez, M.A.; Kelleher, N.J.; Pelucchi, S.; Piperno, A.; Plensa Alberca, E.; Gener Ricós, G.; Cañamero Giró, E.; Pérez-Montero, S.; Tornador, C.; Villà-Freixa, J.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 12 No.: 12
    DOI: https://dx.doi.org/10.3390/genes12121980 ISSN or title: 2073-4425
  • International Journal of Molecular Sciences, Hereditary hyperferritinemia cataract syndrome: Ferritin l gene and physiopathology behind the disease—report of new cases
    Name: Celma, F.; Hernández Viedma, G.; Ferrer, X.; Hernández-Rodriguez, I.; Navarro-Almenzar, B.; Fuster, JL.; Bermúdez-Cortés, M.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 22 No.: 11
    DOI: https://dx.doi.org/10.3390/ijms22115451 ISSN or title: 1422-0067
  • International Journal of Molecular Sciences, Hereditary hyperferritinemia cataract syndrome: Ferritin l gene and physiopathology behind the disease—report of new cases
    Name: Celma, F.; Hernandez, G.; Ferrer, X.; Hernández-Rodríguez, I.; Navarro-Almenzar, B.; Fuster, JL.; Bermúdez Cortés, M.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 22 No.: 11
    DOI: https://dx.doi.org/10.3390/ijms22115451 ISSN or title: 1422-0067
  • Haematologica-the Hematology journal, A mutation in the Iron-Responsive Element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated Erythropoietic Protoporphyria
    Name: Duncamp, S.; Luscieti, S.; Ferrer, X.; Nicolas, G.; Manceau, H.; Peoc’h, K.; Yien, Y.Y.; Kannengiesser, C.; Gouya, L.; Puy, H.; Sánchez, M. Role: Autor Publishing date: 2021
    Start page: 2030 End page: 2033 Vol.: 106 No.: 7
    DOI: https://dx.doi.org/10.3324/haematol.2020.272450 ISSN or title: 0390-6078
  • Blood, Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II
    Name: Dessy, M.; Fañanas, S.; Venturi, V.; Payan, S.; Tornador, C.; Hernández, G.; Bianchi, P.; Sánchez, M.; Ramirez, J.C.; Segovia, J.; Quintana, O. Role: Autor Publishing date: 2021
    Vol.: 138 No.: 1
    DOI: https://dx.doi.org/10.1182/blood-2021-152332 ISSN or title: 0006-4971
  • Hemasphere, Control of Systemic Iron Homeostasis by the 3' Iron-Responsive Element of Divalent Metal Transporter 1 in Mice
    Name: Tybl, E.; Gunshin, H.; Gupta, S.; Barrientos, T.; Bonadonna, M.; Celma, F.; Palais, G.; Karim, Z.; Sánchez, M.; Andrews, N.; Galy, B. Role: Autor Publishing date: 2020
    Vol.: 4 No.: 5
    DOI: https://dx.doi.org/10.1097/HS9.0000000000000459 ISSN or title: 2572-9241
  • International Journal of Molecular Sciences, Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis
    Name: Vila-Cuenca, M.; Marchi, G.; Barque, A.; Esteban-Jurado, C.; Marchetto, A.; Giorgetti , A.; Chelban, V.; Houlden, H.; Wood , NW.; Piubelli, C.; Dorigatti-Borges, M.; Martins-de-Albuquerque, D.; Yotsumoto-Fertrin, K.; Jové-Buxeda, E.; Sanchez-Delgado, J.; Baena-Díez, N.; Burnyte, B.; Utkus, A.; Busti, F.; Kaubrys, G.; Suku, E.; Kowalczyk, K.; Karaszewski, B.; Porter, JB.; Pollard, S.; Eleftheriou, P.; Bignell, P.; Girelli, D.; Sánchez, M. Role: Autor Publishing date: 2020
    Vol.: 21 No.: 7
    DOI: https://dx.doi.org/10.3390/ijms21072374 ISSN or title: 1422-0067
  • Blood, Modelling Congenital Dyserythropoietic Anemia Type II through Gene Editing in Hematopoietic Stem and Progenitor Cells
    Name: Dessy, M.; Fañanas, S.; Venturi, V.; Payán, S.; Tornador, C.; Hernandez, G.; Sánchez, M.; Segovia, J.; Quintana, O. Role: Autor Publishing date: 2020
    Vol.: 136 No.: 1
    DOI: https://dx.doi.org/10.1182/blood-2020-139207 ISSN or title: 0006-4971
  • Frontiers in Physiology, CoDysAn: a telemedicine tool to improve awareness and diagnosis for patients with congenital dyserythropoietic anemia
    Name: Tornador, C.; Sánchez-Prados, E.; Cadenas, B.; Russo, R.; Venturi, V.; Andolfo, I.; Hernández-Rodriguez, I.; Iolascon, A.; Sánchez, M. Role: Autor Publishing date: 2019
    Vol.: 10
    DOI: https://dx.doi.org/10.3389/fphys.2019.01063 ISSN or title: 1664-042X
  • Pharmaceuticals, L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases
    Name: Cadenas, B.; Fita-Torró, J.; Bermúdez-Cortés, M.; Hernández-Rodriguez, I.; Fuster, JL.; Llinares, ME.; Galera, AM.; Romero, JL.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2019
    Vol.: 12 No.: 1
    DOI: https://dx.doi.org/10.3390/ph12010017 ISSN or title: 1424-8247
  • Haematologica-the Hematology journal, The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
    Name: Riley LG; Heeney, M.; Rudinger-Thirion, J.; Frugier, M.; Campagna, D.R.; Zhou, R.; Hale, G.; Hilliard, LM.; Kaplan, J.A.; Kwiatkowski, J.L.; Sieff, C.A.; Steensma, D.P.; Rennings, A.J.; Simons, A.; Schaap, N.; Roodenburg, R.J.; Kleefstra, T.; Arenillas, L.; Fita-Torró, J.; Ahmed, R.; Abboud, M.; Bechara, E.; Farah, R.; Tamminga, R.Y.J.; Bottomley, S.S.; Sánchez, M.; Swinkels, D.W.; Christodoulou, J.; Fleming, M.D. Role: Autor Publishing date: 2018
    Start page: 2008 End page: 2015 Vol.: 103 No.: 12
    DOI: https://dx.doi.org/10.3324/haematol.2017.182659 ISSN or title: 0390-6078
  • Hepatology international, Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype
    Name: Adams, P.; Altes Hernández, A.; Brissot, P.; Butzeck, B.; Cabantchik, I.; Cançado, R.; Distante, S.; Evans, P.; Evans, R.; Ganz, T.; Girelli, D.; Hultcrantz, R.; McLaren, G.; Marris, B.; Milman, N.; Nemeth, E.; Nielsen, P.; Pineau, B.; Piperno, A.; Porto, G.; Prince, D.; Ryan, J.; Sánchez, M.; Santos, P.; Swinkels, D.; Teixeira, E.; Kosta, K.; Vanclooster, A.; White, D. Role: Autor Publishing date: 2018
    Start page: 83 End page: 88 Vol.: 12 No.: 2
    DOI: https://dx.doi.org/10.1007/s12072-018-9855-0 ISSN or title: 1936-0533
  • Scientific Reports, Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.
    Name: Van de Sompele, S.; Pécheux, L.; Couso, J.; Meunier, A.; Sánchez, M.; De Baere, E. Role: Autor Publishing date: 2017
    Start page: 1 End page: 10 Vol.: 7 No.: 18025
    DOI: https://dx.doi.org/10.1038/s41598-017-18326-6 ISSN or title: 2045-2322
  • Blood, The actin binding protein profilin 2 is a novel regulator of iron homeostasis.
    Name: Luscieti, S.; Galy, B.; Gutierrez, L.; Reinke, M.; Couso, J.; Shvartsman, M.; Di Pascale, A.; Witke, W.; Hentze, M.W.; Pilo Boyl, P.; Sánchez, M. Role: Autor Publishing date: 2017
    Start page: 1934 End page: 1945 Vol.: 130 No.: 17
    DOI: https://dx.doi.org/10.1182/blood-2016-11-754382 ISSN or title: 0006-4971
  • Genética Médica y Genómica, Cuando el hierro es tóxico
    Name: Barqué, A.; Sánchez, M. Role: Autor Publishing date: 2017
    Start page: 49 End page: 60 Vol.: 1 No.: 1
    ISSN or title: 2605-0463
  • Haematologica-the Hematology journal, The European Hematology Association Roadmap for European Hematology Research: a consensus document
    Name: Engert, A.; Balduini, C.; Brand, A.; Coiffier, B.; Sánchez, M.; European Hematology Research authors, A. Role: Autor Publishing date: 2016
    Start page: 115 End page: 208 Vol.: 101 No.: 2
    DOI: https://dx.doi.org/10.3324/haematol.2015.136739 ISSN or title: 0390-6078
  • Molecular genetics and genomics, Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3
    Name: Joshi, R.; Shvartsman, M.; Morán, E.; Lois, S.; Aranda, J.; Barqué, A.; de la Cruz, X.; Bruguera, M.; Vagace, J.M.; Gervasini, G.; Sanz, C.; Sánchez, M. Role: Autor Publishing date: 2015
    Start page: 221 End page: 232 Vol.: 3 No.: 3
    DOI: https://dx.doi.org/10.1002/mgg3.136 ISSN or title: 1617-4615
  • Human mutation, Functional and Clinical Impact of Novel Tmprss6 Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies
    Name: de Falco, L.; Silvestri, L.; Kannengiesser, C.; Morán, E.; Oudin, C.; Rausa, M.; Bruno, M.; Aranda, J.; Argiles, B.; Yenicesu, I.; Falcon-Rodriguez, M.; Yilmaz-Keskin, E.; Kocak, U.; Beaumont, C.; Camaschella, C.; Iolascon, A.; Grandchamp , B.; Sánchez, M. Role: Autor Publishing date: 2014
    Start page: 1321 End page: 1329 Vol.: 35 No.: 11
    DOI: https://dx.doi.org/10.1002/humu.22632 ISSN or title: 1059-7794
  • Patient education and counseling, The importance of the general practitioner as an information source for patients with hereditary haemochromatosis
    Name: Teixeira, E.; Borlido-Santos, J.; Brissot, P.; Butzeck, B.; Courtois, F.; Evans, R.W.; Fernau, J.; Nunes, J.A.; Mullett, M.; Paneque, M.; Pineau, B.; Porto, G.; Sorrill, R.; Sánchez, M.; Swinkels, D.W.; Toska, K.; Varkonyi, J.; EFAPH Role: Autor Publishing date: 2014
    Start page: 86 End page: 92 Vol.: 96 No.: 1
    DOI: https://dx.doi.org/10.1016/j.pec.2014.04.017 ISSN or title: 0738-3991
  • Medicina Clinica, Systematic approach to the diagnosis of hyperferritinemia
    Name: Altés, A.; Pérez-Lucena, M.J.; Bruguera, M.; Sánchez, M.; Grp Iberico Ferropatologia Role: Autor Publishing date: 2014
    Start page: 412 End page: 417 Vol.: 142 No.: 9
    DOI: https://dx.doi.org/10.1016/j.medcli.2013.06.010 ISSN or title: 1578-8989 00257753
  • PLoS One, Molecular Evolution of Multiple-Level Control of Heme Biosynthesis Pathway in Animal Kingdom
    Name: Tzou, W.S.; Chu, Y.; Lin, T.Y.; Hu, C.H.; Pai, T.W.; Liu, H.F.; Lin, H.J.; Cases, I.; Rojas, A.; Sánchez, M.; You, Z.Y.; Hsu, M.W. Role: Autor Publishing date: 2014
    Vol.: 9 No.: 1
    DOI: https://dx.doi.org/10.1371/journal.pone.0086718 ISSN or title: 1932-6203
  • British journal of haematology, Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications
    Name: Athiyarath, R.; Arora, N.; Fuster, F.; Schwarzenbacher, R.; Ahmed, R.; George, B.; Chandy, M.; Srivastava, A.; Rojas, A.M.; Sánchez, M.; Edison, E.S. Role: Autor Publishing date: 2013
    Start page: 404 End page: 407 Vol.: 163 No.: 3
    DOI: https://dx.doi.org/10.1111/bjh.12487 ISSN or title: 0007-1048
  • Haematologica-the Hematology journal, Iron refractory iron deficiency anemia
    Name: de Falco, L.; Sánchez, M.; Silvestri, L.; Kannengiesser, C.; Muckenthaler, M.; Iolascon, A.; Gouya, L.; Camaschella, C.; Beaumont, C. Role: Autor Publishing date: 2013
    Start page: 845 End page: 853 Vol.: 98 No.: 6
    DOI: https://dx.doi.org/10.3324/haematol.2012.075515 ISSN or title: 0390-6078
  • Orphanet journal of rare diseases, Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
    Name: Luscieti, S.; Tolle, G.; Aranda, J.; Benet-Campos, C.; Risse F.; Morán, E.; Muckenthaler, M.; Sánchez, M. Role: Autor Publishing date: 2013
    Vol.: 8
    DOI: https://dx.doi.org/10.1186/1750-1172-8-30 ISSN or title: 1750-1172
  • Journal of molecular medicine (JMM), Siderophore-mediated iron trafficking in humans is regulated by iron
    Name: Liu, Z.; Lanford, R.; Mueller, S.; Gerhard, G.S.; Luscieti, S.; Sánchez, M.; Devireddy, L. Role: Autor Publishing date: 2012
    Start page: 1209 End page: 1221 Vol.: 90 No.: 10
    DOI: https://dx.doi.org/10.1007/s00109-012-0899-7 ISSN or title: 0946-2716
  • Blood, Iron regulatory protein-1 and-2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins
    Name: Sánchez, M.; Galy, B.; Schwanhaeusser, B.; Blake, J.; Bähr-Ivacevic, T.; Benes, V.; Selbach, M.; Muckenthaler, M.; Hentze, M.W. Role: Autor Publishing date: 2011
    Start page: e168 End page: e179 Vol.: 118 No.: 22
    DOI: https://dx.doi.org/10.1182/blood-2011-04-343541 ISSN or title: 0006-4971
  • Immunobiology, Mycobacteria-induced anaemia revisited: A molecular approach reveals the involvement of NRAMP1 and lipocalin-2, but not of hepcidin
    Name: Rodrigues P.N; Gomes, S.; Neves, J.; Gomes-Pereira, S.; Correia-Neves, M.; Nunes-Alves, C.; Stolte, J.; Sánchez, M.; Appelberg, R.; Muckenthaler, M. Role: Autor Publishing date: 2011
    Start page: 1127 End page: 1134 Vol.: 216 No.: 10
    DOI: https://dx.doi.org/10.1016/j.imbio.2011.04.004 ISSN or title: 0171-2985
  • Haematologica-the Hematology journal, Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia
    Name: Kannengiesser, C.; Sánchez, M.; Sweeney, M.; Hetet, G.; Kerr, B.; Moran, E.; Fuster Soler, J.; Maloum, K.; Matthes, T.; Oudot, C.; Lascaux, A.; Pondarre, C.; Sevilla Navarro, J.; Vidyatilake, S.; Beaumont, C.; Grandchamp , B.; May, A. Role: Autor Publishing date: 2011
    Start page: 808 End page: 813 Vol.: 96 No.: 6
    DOI: https://dx.doi.org/10.3324/haematol.2010.039164 ISSN or title: 0390-6078
  • Nucleic acids research, SIREs: searching for iron-responsive elements
    Name: Campillos, M.; Cases, I.; Hentze, M.W.; Sánchez, M. Role: Autor Publishing date: 2010
    Start page: W360 End page: W367 Vol.: 38 No.: sup. 2
    DOI: https://dx.doi.org/10.1093/nar/gkq371 ISSN or title: 0305-1048
  • BMC bioinformatics, The IronChip evaluation package: a package of perl modules for robust analysis of custom microarrays
    Name: Vainshtein, Y.; Sánchez, M.; Brazma, A.; Hentze, M.W.; Dandekar, T.; Muckenthaler, M. Role: Autor Publishing date: 2010
    Vol.: 11
    DOI: https://dx.doi.org/10.1186/1471-2105-11-112 ISSN or title: 1471-2105
  • Human molecular genetics, Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
    Name: Ramsay, A.J.; Quesada, V.; Sánchez, M.; Garabaya, C.; Sardà, M.P.; Baiget M; Remacha, A.; Velasco, G.; López-Otín C. Role: Autor Publishing date: 2009
    Start page: 3673 End page: 3683 Vol.: 18 No.: 19
    DOI: https://dx.doi.org/10.1093/hmg/ddp315 ISSN or title: 0964-6906
  • Blood, Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2α iron-responsive element? [10]
    Name: Percy, MJ.; Sánchez, M.; Swierczek, S.; Mcmullin, MF.; Mojica-Henshaw, MP.; Muckenthaler, M.; Prchal, JT.; Hentze, M.W. Role: Autor Publishing date: 2007
    Start page: 2776 End page: 2777 Vol.: 110 No.: 7
    DOI: https://dx.doi.org/10.1182/blood-2007-03-082503 ISSN or title: 0006-4971
  • Nature protocols (Print), Identification of target mRNAs of regulatory RNA binding proteins using mRNP immunopurification and microarrays
    Name: Sánchez, M.; Galy, B.; Hentze, M.W.; Muckenthaler, M. Role: Autor Publishing date: 2007
    Start page: 2033 End page: 2042 Vol.: 2 No.: 8
    DOI: https://dx.doi.org/10.1038/nprot.2007.293 ISSN or title: 1754-2189
  • Nature structural and molecular biology, Iron-regulatory proteins limit hypoxia-inducible factor-2α expression in iron deficiency
    Name: Sánchez, M.; Galy, B.; Muckenthaler, M.; Hentze, M.W. Role: Autor Publishing date: 2007
    Start page: 420 End page: 426 Vol.: 14 No.: 5
    DOI: https://dx.doi.org/10.1038/nsmb1222 ISSN or title: 1545-9993
  • Journal of biological chemistry, Iron regulation and the cell cycle - Identification of an iron-responsive element in the 3 '-untranslated region of human cell division cycle 14A mRNA by a refined microarray-based screening strategy
    Name: Sánchez, M.; Galy, B.; Dandekar, T.; Bengert, P.; Vainshtein, Y.; Stolte, J.; Muckenthaler, M.; Hentze, M.W. Role: Autor Publishing date: 2006
    Start page: 22865 End page: 22874 Vol.: 281 No.: 32
    DOI: https://dx.doi.org/10.1074/jbc.M603876200 ISSN or title: 0021-9258
  • Endocrine, The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2
    Name: Oliva, R.; Novials, A.; Sánchez, M.; Villa, M.; Ingelmo, M.; Recasens, M.; Ascaso, C.; Bruguera, M.; Gomis, R. Role: Autor Publishing date: 2004
    Start page: 111 End page: 114 Vol.: 24 No.: 2
    DOI: https://dx.doi.org/10.1385/ENDO:24:2:111 ISSN or title: 0969-711X
  • Nature genetics, An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice
    Name: Roy, CN.; Custodio, AO.; de Graaf, J.; Schneider, S.; Akpan, I.; Montoss, LK.; Sánchez, M.; Gaudino, A.; Hentze, M.W.; Andrews, N.; Muckenthaler, M. Role: Autor Publishing date: 2004
    Start page: 481 End page: 485 Vol.: 36 No.: 5
    DOI: https://dx.doi.org/10.1038/ng1350 ISSN or title: 1061-4036
  • Journal of hepatology, Population screening for hemochromatosis: a study in 5370 Spanish blood donors
    Name: Sánchez, M.; Villa, M.; Ingelmo, M.; Sanz, C.; Bruguera, M.; Ascaso, C.; Oliva, R. Role: Autor Publishing date: 2003
    Start page: 745 End page: 750 Vol.: 38 No.: 6
    DOI: https://dx.doi.org/10.1016/S0168-8278(03)00123-5 ISSN or title: 0168-8278
  • Blood cells molecules and diseases, Complete characterization of the 3′ region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms
    Name: Sánchez, M.; Bruguera, M.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 2001
    Start page: 35 End page: 43 Vol.: 27 No.: 1
    DOI: https://dx.doi.org/10.1006/bcmd.2000.0346 ISSN or title: 1079-9796
  • Gastroenterologia y Hepatologia, Clinical usefulness of the detection of mutations of the HFE gene in hemochromatosis
    Name: Oliva, R.; Sánchez, M.; Bruguera, M.; Rodes, J. Role: Autor Publishing date: 2000
    Start page: 433 End page: 435 Vol.: 23 No.: 9
    ISSN or title: 0210-5705
  • Genetic testing, Hereditary Hemochromatosis in Spain
    Name: Sánchez, M.; Bruguera, M.; Quintero, E.; Barrio, Y.; Mazzara, R.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 2000
    Start page: 171 End page: 176 Vol.: 4 No.: 2
    DOI: https://dx.doi.org/10.1089/10906570050114885 ISSN or title: 1090-6576
  • Gene, Cloning, sequencing and characterization of the rat HFE promoter. Comparison of the human, mouse and rat hemochromatosis HFE promoter regions
    Name: Sánchez, M.; Queralt, R.; Bruguera, M.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 77 End page: 87 Vol.: 225 No.: 1-2
    DOI: https://dx.doi.org/10.1016/S0378-1119(98)00519-8 ISSN or title: 0378-1119
  • Journal of hepatology, revalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
    Name: Sánchez, M.; Bruguera, M.; Bosch, J.; Rodes, J.; Ballesta, F.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 725 End page: 728 Vol.: 29 No.: 5
    ISSN or title: 0168-8278
  • Biochemical and biophysical research communications, Identification of conserved potentially regulatory sequences of the SRY gene from different species of mammals
    Name: Margarit, E.; Guillem, A.; Rebordosa, C.; Vidal-Taboada, J.; Sánchez, M.; Ballesta, F.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 370 End page: 377 Vol.: 245 No.: 2
    DOI: https://dx.doi.org/10.1006/bbrc.1998.8441 ISSN or title: 0006-291X
  • Biochemical and biophysical research communications, High resolution mapping and identification of transcribed sequences in the Down Syndrome region-2
    Name: Vidal-Taboada, J.; Bergoñon, S.; Sánchez, M.; López-Acedo, C.; Groet, J.; Nižetić, D.; Egeo, A.; Scartezzini, P.; Katsanis, N.; Fisher, E.; Delabar, J.M.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 572 End page: 578 Vol.: 243 No.: 2
    DOI: https://dx.doi.org/10.1006/bbrc.1998.8141 ISSN or title: 0006-291X
  • Capítulo 19 Hemocromatosis. Eritropatología. 2nd Edition.
    Name: Sánchez, M. Role: Autor Publishing date: 31/05/2024
    Start page: 501 End page: 516
    ISBN: 978-84-125780-7-2
  • Capítulo Anemias Sideroblásticas Congénitas.. Guía de Recomendaciones para el Diagnóstico Genético y Seguimiento de Neoplasias Hematológicas
    Name: Anguita, E.; Sánchez, M. Role: Autor Publishing date: 02/10/2017
  • Capítulo Hemocromatosis. Guía de recomendaciones para el diagnóstico genético y seguimiento de neoplasias
    Name: Sánchez, M.; Blas-López, C. Role: Autor Publishing date: 02/10/2017
  • Capítulo 30 Hemocromatosis Hereditaria. Eritropatología
    Name: Sánchez, M.; Altés, A. Role: Autor Publishing date: 11/09/2017
    Start page: 569 End page: 582
    ISBN: 978-84-945945-4-0
  • Capítulo 8 Anemias sideroblásticas congénitas.. Eritropatología
    Name: Sánchez, M. Role: Autor Publishing date: 11/09/2017
    ISBN: 978-84-945945-4-0
  • Capítulo 33. Anemias sideroblásticas congénitas. Manual Práctico de Genética Hematológica
    Name: Anguita, E.; Sánchez, M. Role: Autor Publishing date: 01/06/2016
    ISBN: 9788460857570
  • Capítulo 36. Hemocromatosis. Manual Práctico de Genética Hematológica
    Name: Sánchez, M.; Renedo-Gancedo, M.; Oliva, R.; Blas-López, C. Role: Autor Publishing date: 01/06/2016
    ISBN: 9788460857570
  • Tema 3. Trastornos del hierro en el organismo y métodos de estudio. Dentro del Módulo 4. Anemia y Poliglobulia.. Experto en bases del diagnóstico en Hematología
    Name: Sánchez, M. Role: Autor Publishing date: 01/05/2016
    ISBN: 9788491100317
  • Capítulo 15: Métodos para el diagnóstico de la ferropenia y el exceso de hierro. Manual de técnicas de laboratorio en hematología
    Name: Sánchez, M.; Vives-Corrons, J.L. Role: Autor Publishing date: 01/06/2014
    Start page: 390 End page: 433
    ISBN: 987-84-458-2147-3
  • Hereditary non-sideroblastic Anemia and Inherited Iron disorders. ENERCA reccommendations for Centres of Expertise in rare anaemias: A White Book
    Name: Sánchez, M. Role: Autor Publishing date: 01/05/2014
    ISBN: 978-84-939018-8-1
  • Capitulo 31. Práctica 6: bases de dades i d'anàlisi de seqüències a internet. Genética Médica
    Name: Oliva, R.; Vidal-Taboada, J.; Sánchez, M. Role: Autor Publishing date: 01/05/2013
    ISBN: 978-84-475-3688-7
  • Cellular Iron Metabolism- the IRP/IRE regulatory network. Iron Metabolism
    Name: Joshi, R.; Morán, E.; Sánchez, M. Role: Autor Publishing date: 01/05/2012
    Start page: 25 End page: 58
    ISBN: 978-953-51-0650-0
  • Capitol 29: Base de dades i d'anàlisis de seqüències a internet. Genètica Mèdica
    Name: Vidal-Taboada, J.; Sánchez, M.; Oliva, R. Role: Autor Publishing date: 01/01/2004
    ISBN: 84-475-2809-X
Course 2024-2025 - Period: 01/09/2024 - 31/08/2025
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Clinical Genetics
    • - Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Research On Rare Diseases
Course 2023-2024 - Period: 01/09/2023 - 31/08/2024
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Research On Rare Diseases
Course 2022-2023 - Period: 01/09/2022 - 31/08/2023
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2021-2022 - Period: 01/09/2021 - 31/08/2022
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2020-2021 - Period: 01/09/2020 - 31/08/2021
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Cell Biology II
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2019-2020 - Period: 01/09/2019 - 31/08/2020
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Cell Biology II
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
Course 2018-2019 - Period: 01/09/2018 - 31/08/2019
  • Bachelor’s Degree
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
  • Others
    UIC - Specific Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Integrated Biomedicine I

Academic training

  • Doctora en Biologia- Genètica
  • Universitat de Barcelona
  • Licenciada en Bioquímica
  • Universitat de Barcelona

Projects

Competitive

Non-competitive

  • AVANCES EN DIAGNOSTICO Y TERAPIA PARA ENFERMEDADES HEMATOLOGICAS HEREDITARIAS RARAS (ARETHA)
    PI: Sánchez, M. Start date: 01/01/2022 End date: 31/12/2025
    Financing entity: Ministerio de ciencia e innovación
  • ARETHA: Advances in diagnostic and therapy for rare hereditary haematological diseases (ARETHA, Advances in Rare hErediTary Hematological diseAses)
    PI: Sánchez, M. Start date: 01/09/2022 End date: 31/08/2025
    Financing entity: Ministerio de Ciencia e Innovación (MICINN) Financing entity code: PID2021-122436OB-I00
  • NANOANEMIA-Nanobiosensor multiplexado para el diagnóstico instantáneo y clasificación de la anemia en el punto de atención
    PI: Sánchez, M.; Tornador, C.; Merkoçi, A. Start date: 01/12/2021 End date: 30/11/2024
    Financing entity: Ministerio de Ciencia e Innovación (MICINN) Financing entity code: PLEC2021-007727
  • Nanobiosensor multiplexado para el diagnóstico instantáneo y clasificación de la anemia en el punto de atención (NANOANAEMIA)
    PI: Sánchez, M.; Merkoçi, A.; Tornador, C. Start date: 01/01/2021 End date: 31/12/2023
    Financing entity: Ministerio de ciencia e innovación
  • RETOS COLABORACION-Nuevas aproximaciones para el diagnóstico y tratamiento de la anemia diseritropoyética congénita: Secuenciación masiva y terapia génica
    PI: Sánchez, M.; Tornador, C.; Segovia, J.; Ramirez, J.C. Start date: 01/01/2020 End date: 31/12/2023
    Financing entity: MINISTERIO DE CIENCIA E INNOVACION Financing entity code: RTC2019-007074-1
  • EU project 894737-Advances in the Diagnosis and Gene Therapy of Congenital dyserythropoietic Anemia
    PI: Sánchez, M. Start date: 16/03/2021 End date: 15/05/2023
    Financing entity: European Union Financing entity code: EU project 894737 -MSCA-IF-EF-SE - Society and Enterprise panel
  • NEOTEC-CDTI-Mejoras en el diagnóstico y desarrollo de herramientas moleculares para terapia génica en Anemia diseritropoyética congénita (ADC)
    PI: Sánchez, M.; Tornador, C.; Segovia, J. Start date: 01/01/2020 End date: 31/12/2021
    Financing entity: CDTI; Ministerio de Ciencia e Innovación (MICINN) Financing entity code: SNEO-20191246
  • Advances in new molecular pathways and novel diseases in iron homeostasis (A-IRON, Advances in IRON physiopatology)
    PI: Sánchez, M. Start date: 01/01/2019 End date: 31/12/2021
    Financing entity: Ministerio de ciencia e innovación
  • Advances in new molecular pathways and novel diseases in iron homeostasis (A-IRON)
    PI: Sánchez, M. Start date: 01/01/2019 End date: 31/12/2021
    Financing entity: Ministerio de Ciencia, Innovación y Universidades Financing entity code: RTI2018-101735-B-I00
  • Towards the improvement of diagnosis and treatment in Congenital Dyserythropoyetic Anaemias
    PI: Sánchez, M. Start date: 02/03/2017 End date: 01/03/2020
    Financing entity: Fundación Ramón Areces Financing entity code: CIVP18A1857
  • Convenio APU-ADISCON-UIC
    PI: Sánchez, M. Start date: 01/12/2018 End date: 30/11/2023
    Financing entity: Fundación Pablo Ugarte
  • Convenio APU-ADISCON-IJC
    PI: Sánchez, M. Start date: 03/08/2015 End date: 30/11/2018
    Financing entity: Fundación Pablo Ugarte

Publications

Articles

Book chapters

  • Hemasphere, Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia
    Name: Iolascon, A.; Andolfo, I.; Russo, R.; Sánchez, M.; Busti, F.; Swinkels, D.; Aguilar , P.; Bou, R.; Muckenthaler, M.; Unal , S.; Porto, G.; Ganz, T.; Kattamis, A.; De Franceschi, L.; Cappellini, M.; Munro , M.; Taher, A. Role: Autor Publishing date: 2024
    Vol.: 8 No.: 7
    DOI: https://dx.doi.org/10.1002/hem3.108 ISSN or title: 2572-9241
  • NATURE METABOLISM, Iron accumulation drives fibrosis, senescence and the senescence-associated secretory phenotype
    Name: Maus, M.; López, V.; Mateo, L.; Lafarga, M.; Aguilera, M.; De Lama, E.; Meyer, K.; Sola, A.; Lopez, C.; López, I.; Guasch, M.; Hernandez, F.; Chaib, S.; Rovira, M.; Sánchez, M.; Faner, R.; Agusti, A.; Diéguez, R.; Ortega, S.; Manonelles, A.; Engelhardt, S.; Monteiro, F.; Stephan-Otto, C.; Prats, N.; Albaiceta, G.; Cruzado, J.; Serrano, M. Role: Autor Publishing date: 2023
    Start page: 2111 End page: 2130 Vol.: 5
    DOI: https://dx.doi.org/10.1038/s42255-023-00928-2 ISSN or title: 2522-5812
  • International Journal of Molecular Sciences, New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
    Name: Mara, M.; Venturi, V.; Ferrer, X.; Romero, L.; Hernández Viedma, G.; Leoz, P.; Ricard, M.; Morado, M.; Fernández , M.; Beneitez, D.; Ortuño, A.; Moreno, M.; Senent, L.; Perez-Valencia, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2023
    Vol.: 24 No.: 12
    DOI: https://dx.doi.org/10.3390/ijms24129935 ISSN or title: 1422-0067
  • International Journal of Molecular Sciences, New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
    Name: Mara, M.; Venturi, V.; Ferrer, X.; Romero, L.; Hernandez, G.; Leoz, P.; Ricard, M.; Morado, M.; Fernández, M.; Beneitez, D.; Ortuño, A.; Moreno, M.; Senent, L.; Perez, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2023
    Vol.: 24 No.: 12
    DOI: https://dx.doi.org/10.3390/ijms24129935 ISSN or title: 1422-0067
  • Haematologica-the Hematology journal, Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III
    Name: Hernández Viedma, G.; Romero, L.; Ferrer, X.; Venturi, V.; Dessy, M.; Olivella, M.; Husami, A.; Pérez, C.; Morales, R.; Villegas, A.; González , F.; Morado, M.; Kalfa, T.; Quintana, O.; Pérez-Montero, S.; Tornador, C.; Segovia, J.; Sánchez, M. Role: Autor Publishing date: 2023
    Start page: 581 End page: 587 Vol.: 108 No.: 2
    DOI: https://dx.doi.org/10.3324/haematol.2022.281277 ISSN or title: 0390-6078
  • Health Expectations, Haemochromatosis patients' research priorities: Towards an improved quality of life
    Name: Romero, L.; Venturi, V.; Martín-Sánchez, JC; Kosta, K.; Prince, D.; Butzeck, B.; Porto, G.; Thorm, N.; Sánchez, M. Role: Autor Publishing date: 2023
    DOI: https://dx.doi.org/10.1111/hex.13830 ISSN or title: 1369-7625
  • Haematologica-the Hematology journal, Mutations in the RACGAP1 gene cause autosomal recessive Congenital Dyserythropoietic Anemia type III.
    Name: Hernandez, G.; Romero, L.; Ferrer, X.; Venturi, V.; Dessy, M.; Olivella, M.; Husami, A.; Pérez, C.; Morales, R.; Villegas, A.; González , F.; Morado, M.; Kalfa, T.; Quintana, O.; Pérez-Montero, S.; Tornador, C.; Segovia, J.; Sánchez, M. Role: Autor Publishing date: 2022
    ISSN or title: 0390-6078
  • British Journal of Haematology, The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*
    Name: Sánchez, M. Role: Autor Publishing date: 2022
    Start page: 459 End page: 459 Vol.: 198 No.: 3
    DOI: https://dx.doi.org/10.1111/bjh.18191 ISSN or title: 1365-2141
  • Hemasphere, The Use of Next-generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH/EHA Good Practice Paper
    Name: Roy, N.; Da Costa, L.; Russo, R.; Bianchi, P.; Manu-Pereira, M.; Fermo, E.; Andolfo, I.; Clark, B.; Proven, M.; Sánchez, M.; van Wijk, R.; van der Zwaag, B.; Layton, M.; Rees, D.; Iolascon, A. Role: Autor Publishing date: 2022
    Vol.: 6 No.: 6
    DOI: https://dx.doi.org/10.1097/HS9.0000000000000739 ISSN or title: 2572-9241
  • International Journal of Molecular Sciences, New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation
    Name: Romero, L.; Hernández Viedma, G.; Ferrer, X.; Zalba-Jadraque, L.; Fuster, JL.; Bermúdez-Cortés, M.; Galera-Minarro, A.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2022
    Vol.: 23 No.: 8
    DOI: https://dx.doi.org/10.3390/ijms23084406 ISSN or title: 1422-0067
  • Genes, New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis
    Name: Hernández Viedma, G.; Ferrer, X.; Venturi, V.; Mara, M.; Floor, M.; Munoz-Torres, PM.; Hernández-Rodriguez, I.; Ruiz Mínguez, M.A.; Kelleher, N.J.; Pelucchi, S.; Piperno, A.; Plensa Alberca, E.; Gener Ricós, G.; Cañamero Giró, E.; Pérez-Montero, S.; Tornador, C.; Villà-Freixa, J.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 12 No.: 12
    DOI: https://dx.doi.org/10.3390/genes12121980 ISSN or title: 2073-4425
  • Genes, New mutations in hfe2 and tfr2 genes causing non hfe-related hereditary hemochromatosis
    Name: Hernandez, G.; Ferrer, X.; Venturi, V.; Musri, M.; Floor, M.; Munoz-Torres, PM.; Hernández-Rodriguez, I.; Ruiz Mínguez, M.A.; Kelleher, N.J.; Pelucchi, S.; Piperno, A.; Plensa Alberca, E.; Gener Ricós, G.; Cañamero Giró, E.; Pérez-Montero, S.; Tornador, C.; Villà-Freixa, J.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 12 No.: 12
    DOI: https://dx.doi.org/10.3390/genes12121980 ISSN or title: 2073-4425
  • International Journal of Molecular Sciences, Hereditary hyperferritinemia cataract syndrome: Ferritin l gene and physiopathology behind the disease—report of new cases
    Name: Celma, F.; Hernández Viedma, G.; Ferrer, X.; Hernández-Rodriguez, I.; Navarro-Almenzar, B.; Fuster, JL.; Bermúdez-Cortés, M.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 22 No.: 11
    DOI: https://dx.doi.org/10.3390/ijms22115451 ISSN or title: 1422-0067
  • International Journal of Molecular Sciences, Hereditary hyperferritinemia cataract syndrome: Ferritin l gene and physiopathology behind the disease—report of new cases
    Name: Celma, F.; Hernandez, G.; Ferrer, X.; Hernández-Rodríguez, I.; Navarro-Almenzar, B.; Fuster, JL.; Bermúdez Cortés, M.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2021
    Vol.: 22 No.: 11
    DOI: https://dx.doi.org/10.3390/ijms22115451 ISSN or title: 1422-0067
  • Haematologica-the Hematology journal, A mutation in the Iron-Responsive Element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated Erythropoietic Protoporphyria
    Name: Duncamp, S.; Luscieti, S.; Ferrer, X.; Nicolas, G.; Manceau, H.; Peoc’h, K.; Yien, Y.Y.; Kannengiesser, C.; Gouya, L.; Puy, H.; Sánchez, M. Role: Autor Publishing date: 2021
    Start page: 2030 End page: 2033 Vol.: 106 No.: 7
    DOI: https://dx.doi.org/10.3324/haematol.2020.272450 ISSN or title: 0390-6078
  • Blood, Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II
    Name: Dessy, M.; Fañanas, S.; Venturi, V.; Payan, S.; Tornador, C.; Hernández, G.; Bianchi, P.; Sánchez, M.; Ramirez, J.C.; Segovia, J.; Quintana, O. Role: Autor Publishing date: 2021
    Vol.: 138 No.: 1
    DOI: https://dx.doi.org/10.1182/blood-2021-152332 ISSN or title: 0006-4971
  • Hemasphere, Control of Systemic Iron Homeostasis by the 3' Iron-Responsive Element of Divalent Metal Transporter 1 in Mice
    Name: Tybl, E.; Gunshin, H.; Gupta, S.; Barrientos, T.; Bonadonna, M.; Celma, F.; Palais, G.; Karim, Z.; Sánchez, M.; Andrews, N.; Galy, B. Role: Autor Publishing date: 2020
    Vol.: 4 No.: 5
    DOI: https://dx.doi.org/10.1097/HS9.0000000000000459 ISSN or title: 2572-9241
  • International Journal of Molecular Sciences, Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis
    Name: Vila-Cuenca, M.; Marchi, G.; Barque, A.; Esteban-Jurado, C.; Marchetto, A.; Giorgetti , A.; Chelban, V.; Houlden, H.; Wood , NW.; Piubelli, C.; Dorigatti-Borges, M.; Martins-de-Albuquerque, D.; Yotsumoto-Fertrin, K.; Jové-Buxeda, E.; Sanchez-Delgado, J.; Baena-Díez, N.; Burnyte, B.; Utkus, A.; Busti, F.; Kaubrys, G.; Suku, E.; Kowalczyk, K.; Karaszewski, B.; Porter, JB.; Pollard, S.; Eleftheriou, P.; Bignell, P.; Girelli, D.; Sánchez, M. Role: Autor Publishing date: 2020
    Vol.: 21 No.: 7
    DOI: https://dx.doi.org/10.3390/ijms21072374 ISSN or title: 1422-0067
  • Blood, Modelling Congenital Dyserythropoietic Anemia Type II through Gene Editing in Hematopoietic Stem and Progenitor Cells
    Name: Dessy, M.; Fañanas, S.; Venturi, V.; Payán, S.; Tornador, C.; Hernandez, G.; Sánchez, M.; Segovia, J.; Quintana, O. Role: Autor Publishing date: 2020
    Vol.: 136 No.: 1
    DOI: https://dx.doi.org/10.1182/blood-2020-139207 ISSN or title: 0006-4971
  • Frontiers in Physiology, CoDysAn: a telemedicine tool to improve awareness and diagnosis for patients with congenital dyserythropoietic anemia
    Name: Tornador, C.; Sánchez-Prados, E.; Cadenas, B.; Russo, R.; Venturi, V.; Andolfo, I.; Hernández-Rodriguez, I.; Iolascon, A.; Sánchez, M. Role: Autor Publishing date: 2019
    Vol.: 10
    DOI: https://dx.doi.org/10.3389/fphys.2019.01063 ISSN or title: 1664-042X
  • Pharmaceuticals, L-Ferritin: One Gene, Five Diseases; from Hereditary Hyperferritinemia to Hypoferritinemia-Report of New Cases
    Name: Cadenas, B.; Fita-Torró, J.; Bermúdez-Cortés, M.; Hernández-Rodriguez, I.; Fuster, JL.; Llinares, ME.; Galera, AM.; Romero, JL.; Pérez-Montero, S.; Tornador, C.; Sánchez, M. Role: Autor Publishing date: 2019
    Vol.: 12 No.: 1
    DOI: https://dx.doi.org/10.3390/ph12010017 ISSN or title: 1424-8247
  • Haematologica-the Hematology journal, The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2
    Name: Riley LG; Heeney, M.; Rudinger-Thirion, J.; Frugier, M.; Campagna, D.R.; Zhou, R.; Hale, G.; Hilliard, LM.; Kaplan, J.A.; Kwiatkowski, J.L.; Sieff, C.A.; Steensma, D.P.; Rennings, A.J.; Simons, A.; Schaap, N.; Roodenburg, R.J.; Kleefstra, T.; Arenillas, L.; Fita-Torró, J.; Ahmed, R.; Abboud, M.; Bechara, E.; Farah, R.; Tamminga, R.Y.J.; Bottomley, S.S.; Sánchez, M.; Swinkels, D.W.; Christodoulou, J.; Fleming, M.D. Role: Autor Publishing date: 2018
    Start page: 2008 End page: 2015 Vol.: 103 No.: 12
    DOI: https://dx.doi.org/10.3324/haematol.2017.182659 ISSN or title: 0390-6078
  • Hepatology international, Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype
    Name: Adams, P.; Altes Hernández, A.; Brissot, P.; Butzeck, B.; Cabantchik, I.; Cançado, R.; Distante, S.; Evans, P.; Evans, R.; Ganz, T.; Girelli, D.; Hultcrantz, R.; McLaren, G.; Marris, B.; Milman, N.; Nemeth, E.; Nielsen, P.; Pineau, B.; Piperno, A.; Porto, G.; Prince, D.; Ryan, J.; Sánchez, M.; Santos, P.; Swinkels, D.; Teixeira, E.; Kosta, K.; Vanclooster, A.; White, D. Role: Autor Publishing date: 2018
    Start page: 83 End page: 88 Vol.: 12 No.: 2
    DOI: https://dx.doi.org/10.1007/s12072-018-9855-0 ISSN or title: 1936-0533
  • Scientific Reports, Functional characterization of a novel non-coding mutation "Ghent +49A > G" in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract syndrome.
    Name: Van de Sompele, S.; Pécheux, L.; Couso, J.; Meunier, A.; Sánchez, M.; De Baere, E. Role: Autor Publishing date: 2017
    Start page: 1 End page: 10 Vol.: 7 No.: 18025
    DOI: https://dx.doi.org/10.1038/s41598-017-18326-6 ISSN or title: 2045-2322
  • Blood, The actin binding protein profilin 2 is a novel regulator of iron homeostasis.
    Name: Luscieti, S.; Galy, B.; Gutierrez, L.; Reinke, M.; Couso, J.; Shvartsman, M.; Di Pascale, A.; Witke, W.; Hentze, M.W.; Pilo Boyl, P.; Sánchez, M. Role: Autor Publishing date: 2017
    Start page: 1934 End page: 1945 Vol.: 130 No.: 17
    DOI: https://dx.doi.org/10.1182/blood-2016-11-754382 ISSN or title: 0006-4971
  • Genética Médica y Genómica, Cuando el hierro es tóxico
    Name: Barqué, A.; Sánchez, M. Role: Autor Publishing date: 2017
    Start page: 49 End page: 60 Vol.: 1 No.: 1
    ISSN or title: 2605-0463
  • Haematologica-the Hematology journal, The European Hematology Association Roadmap for European Hematology Research: a consensus document
    Name: Engert, A.; Balduini, C.; Brand, A.; Coiffier, B.; Sánchez, M.; European Hematology Research authors, A. Role: Autor Publishing date: 2016
    Start page: 115 End page: 208 Vol.: 101 No.: 2
    DOI: https://dx.doi.org/10.3324/haematol.2015.136739 ISSN or title: 0390-6078
  • Molecular genetics and genomics, Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3
    Name: Joshi, R.; Shvartsman, M.; Morán, E.; Lois, S.; Aranda, J.; Barqué, A.; de la Cruz, X.; Bruguera, M.; Vagace, J.M.; Gervasini, G.; Sanz, C.; Sánchez, M. Role: Autor Publishing date: 2015
    Start page: 221 End page: 232 Vol.: 3 No.: 3
    DOI: https://dx.doi.org/10.1002/mgg3.136 ISSN or title: 1617-4615
  • Human mutation, Functional and Clinical Impact of Novel Tmprss6 Variants in Iron-Refractory Iron-Deficiency Anemia Patients and Genotype-Phenotype Studies
    Name: de Falco, L.; Silvestri, L.; Kannengiesser, C.; Morán, E.; Oudin, C.; Rausa, M.; Bruno, M.; Aranda, J.; Argiles, B.; Yenicesu, I.; Falcon-Rodriguez, M.; Yilmaz-Keskin, E.; Kocak, U.; Beaumont, C.; Camaschella, C.; Iolascon, A.; Grandchamp , B.; Sánchez, M. Role: Autor Publishing date: 2014
    Start page: 1321 End page: 1329 Vol.: 35 No.: 11
    DOI: https://dx.doi.org/10.1002/humu.22632 ISSN or title: 1059-7794
  • Patient education and counseling, The importance of the general practitioner as an information source for patients with hereditary haemochromatosis
    Name: Teixeira, E.; Borlido-Santos, J.; Brissot, P.; Butzeck, B.; Courtois, F.; Evans, R.W.; Fernau, J.; Nunes, J.A.; Mullett, M.; Paneque, M.; Pineau, B.; Porto, G.; Sorrill, R.; Sánchez, M.; Swinkels, D.W.; Toska, K.; Varkonyi, J.; EFAPH Role: Autor Publishing date: 2014
    Start page: 86 End page: 92 Vol.: 96 No.: 1
    DOI: https://dx.doi.org/10.1016/j.pec.2014.04.017 ISSN or title: 0738-3991
  • Medicina Clinica, Systematic approach to the diagnosis of hyperferritinemia
    Name: Altés, A.; Pérez-Lucena, M.J.; Bruguera, M.; Sánchez, M.; Grp Iberico Ferropatologia Role: Autor Publishing date: 2014
    Start page: 412 End page: 417 Vol.: 142 No.: 9
    DOI: https://dx.doi.org/10.1016/j.medcli.2013.06.010 ISSN or title: 1578-8989 00257753
  • PLoS One, Molecular Evolution of Multiple-Level Control of Heme Biosynthesis Pathway in Animal Kingdom
    Name: Tzou, W.S.; Chu, Y.; Lin, T.Y.; Hu, C.H.; Pai, T.W.; Liu, H.F.; Lin, H.J.; Cases, I.; Rojas, A.; Sánchez, M.; You, Z.Y.; Hsu, M.W. Role: Autor Publishing date: 2014
    Vol.: 9 No.: 1
    DOI: https://dx.doi.org/10.1371/journal.pone.0086718 ISSN or title: 1932-6203
  • British journal of haematology, Two novel missense mutations in iron transport protein transferrin causing hypochromic microcytic anaemia and haemosiderosis: molecular characterization and structural implications
    Name: Athiyarath, R.; Arora, N.; Fuster, F.; Schwarzenbacher, R.; Ahmed, R.; George, B.; Chandy, M.; Srivastava, A.; Rojas, A.M.; Sánchez, M.; Edison, E.S. Role: Autor Publishing date: 2013
    Start page: 404 End page: 407 Vol.: 163 No.: 3
    DOI: https://dx.doi.org/10.1111/bjh.12487 ISSN or title: 0007-1048
  • Haematologica-the Hematology journal, Iron refractory iron deficiency anemia
    Name: de Falco, L.; Sánchez, M.; Silvestri, L.; Kannengiesser, C.; Muckenthaler, M.; Iolascon, A.; Gouya, L.; Camaschella, C.; Beaumont, C. Role: Autor Publishing date: 2013
    Start page: 845 End page: 853 Vol.: 98 No.: 6
    DOI: https://dx.doi.org/10.3324/haematol.2012.075515 ISSN or title: 0390-6078
  • Orphanet journal of rare diseases, Novel mutations in the ferritin-L iron-responsive element that only mildly impair IRP binding cause hereditary hyperferritinaemia cataract syndrome
    Name: Luscieti, S.; Tolle, G.; Aranda, J.; Benet-Campos, C.; Risse F.; Morán, E.; Muckenthaler, M.; Sánchez, M. Role: Autor Publishing date: 2013
    Vol.: 8
    DOI: https://dx.doi.org/10.1186/1750-1172-8-30 ISSN or title: 1750-1172
  • Journal of molecular medicine (JMM), Siderophore-mediated iron trafficking in humans is regulated by iron
    Name: Liu, Z.; Lanford, R.; Mueller, S.; Gerhard, G.S.; Luscieti, S.; Sánchez, M.; Devireddy, L. Role: Autor Publishing date: 2012
    Start page: 1209 End page: 1221 Vol.: 90 No.: 10
    DOI: https://dx.doi.org/10.1007/s00109-012-0899-7 ISSN or title: 0946-2716
  • Blood, Iron regulatory protein-1 and-2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by iron regulatory proteins
    Name: Sánchez, M.; Galy, B.; Schwanhaeusser, B.; Blake, J.; Bähr-Ivacevic, T.; Benes, V.; Selbach, M.; Muckenthaler, M.; Hentze, M.W. Role: Autor Publishing date: 2011
    Start page: e168 End page: e179 Vol.: 118 No.: 22
    DOI: https://dx.doi.org/10.1182/blood-2011-04-343541 ISSN or title: 0006-4971
  • Immunobiology, Mycobacteria-induced anaemia revisited: A molecular approach reveals the involvement of NRAMP1 and lipocalin-2, but not of hepcidin
    Name: Rodrigues P.N; Gomes, S.; Neves, J.; Gomes-Pereira, S.; Correia-Neves, M.; Nunes-Alves, C.; Stolte, J.; Sánchez, M.; Appelberg, R.; Muckenthaler, M. Role: Autor Publishing date: 2011
    Start page: 1127 End page: 1134 Vol.: 216 No.: 10
    DOI: https://dx.doi.org/10.1016/j.imbio.2011.04.004 ISSN or title: 0171-2985
  • Haematologica-the Hematology journal, Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia
    Name: Kannengiesser, C.; Sánchez, M.; Sweeney, M.; Hetet, G.; Kerr, B.; Moran, E.; Fuster Soler, J.; Maloum, K.; Matthes, T.; Oudot, C.; Lascaux, A.; Pondarre, C.; Sevilla Navarro, J.; Vidyatilake, S.; Beaumont, C.; Grandchamp , B.; May, A. Role: Autor Publishing date: 2011
    Start page: 808 End page: 813 Vol.: 96 No.: 6
    DOI: https://dx.doi.org/10.3324/haematol.2010.039164 ISSN or title: 0390-6078
  • Nucleic acids research, SIREs: searching for iron-responsive elements
    Name: Campillos, M.; Cases, I.; Hentze, M.W.; Sánchez, M. Role: Autor Publishing date: 2010
    Start page: W360 End page: W367 Vol.: 38 No.: sup. 2
    DOI: https://dx.doi.org/10.1093/nar/gkq371 ISSN or title: 0305-1048
  • BMC bioinformatics, The IronChip evaluation package: a package of perl modules for robust analysis of custom microarrays
    Name: Vainshtein, Y.; Sánchez, M.; Brazma, A.; Hentze, M.W.; Dandekar, T.; Muckenthaler, M. Role: Autor Publishing date: 2010
    Vol.: 11
    DOI: https://dx.doi.org/10.1186/1471-2105-11-112 ISSN or title: 1471-2105
  • Human molecular genetics, Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms
    Name: Ramsay, A.J.; Quesada, V.; Sánchez, M.; Garabaya, C.; Sardà, M.P.; Baiget M; Remacha, A.; Velasco, G.; López-Otín C. Role: Autor Publishing date: 2009
    Start page: 3673 End page: 3683 Vol.: 18 No.: 19
    DOI: https://dx.doi.org/10.1093/hmg/ddp315 ISSN or title: 0964-6906
  • Blood, Is congenital secondary erythrocytosis/polycythemia caused by activating mutations within the HIF-2α iron-responsive element? [10]
    Name: Percy, MJ.; Sánchez, M.; Swierczek, S.; Mcmullin, MF.; Mojica-Henshaw, MP.; Muckenthaler, M.; Prchal, JT.; Hentze, M.W. Role: Autor Publishing date: 2007
    Start page: 2776 End page: 2777 Vol.: 110 No.: 7
    DOI: https://dx.doi.org/10.1182/blood-2007-03-082503 ISSN or title: 0006-4971
  • Nature protocols (Print), Identification of target mRNAs of regulatory RNA binding proteins using mRNP immunopurification and microarrays
    Name: Sánchez, M.; Galy, B.; Hentze, M.W.; Muckenthaler, M. Role: Autor Publishing date: 2007
    Start page: 2033 End page: 2042 Vol.: 2 No.: 8
    DOI: https://dx.doi.org/10.1038/nprot.2007.293 ISSN or title: 1754-2189
  • Nature structural and molecular biology, Iron-regulatory proteins limit hypoxia-inducible factor-2α expression in iron deficiency
    Name: Sánchez, M.; Galy, B.; Muckenthaler, M.; Hentze, M.W. Role: Autor Publishing date: 2007
    Start page: 420 End page: 426 Vol.: 14 No.: 5
    DOI: https://dx.doi.org/10.1038/nsmb1222 ISSN or title: 1545-9993
  • Journal of biological chemistry, Iron regulation and the cell cycle - Identification of an iron-responsive element in the 3 '-untranslated region of human cell division cycle 14A mRNA by a refined microarray-based screening strategy
    Name: Sánchez, M.; Galy, B.; Dandekar, T.; Bengert, P.; Vainshtein, Y.; Stolte, J.; Muckenthaler, M.; Hentze, M.W. Role: Autor Publishing date: 2006
    Start page: 22865 End page: 22874 Vol.: 281 No.: 32
    DOI: https://dx.doi.org/10.1074/jbc.M603876200 ISSN or title: 0021-9258
  • Endocrine, The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2
    Name: Oliva, R.; Novials, A.; Sánchez, M.; Villa, M.; Ingelmo, M.; Recasens, M.; Ascaso, C.; Bruguera, M.; Gomis, R. Role: Autor Publishing date: 2004
    Start page: 111 End page: 114 Vol.: 24 No.: 2
    DOI: https://dx.doi.org/10.1385/ENDO:24:2:111 ISSN or title: 0969-711X
  • Nature genetics, An Hfe-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice
    Name: Roy, CN.; Custodio, AO.; de Graaf, J.; Schneider, S.; Akpan, I.; Montoss, LK.; Sánchez, M.; Gaudino, A.; Hentze, M.W.; Andrews, N.; Muckenthaler, M. Role: Autor Publishing date: 2004
    Start page: 481 End page: 485 Vol.: 36 No.: 5
    DOI: https://dx.doi.org/10.1038/ng1350 ISSN or title: 1061-4036
  • Journal of hepatology, Population screening for hemochromatosis: a study in 5370 Spanish blood donors
    Name: Sánchez, M.; Villa, M.; Ingelmo, M.; Sanz, C.; Bruguera, M.; Ascaso, C.; Oliva, R. Role: Autor Publishing date: 2003
    Start page: 745 End page: 750 Vol.: 38 No.: 6
    DOI: https://dx.doi.org/10.1016/S0168-8278(03)00123-5 ISSN or title: 0168-8278
  • Blood cells molecules and diseases, Complete characterization of the 3′ region of the human and mouse hereditary hemochromatosis HFE gene and detection of novel splicing forms
    Name: Sánchez, M.; Bruguera, M.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 2001
    Start page: 35 End page: 43 Vol.: 27 No.: 1
    DOI: https://dx.doi.org/10.1006/bcmd.2000.0346 ISSN or title: 1079-9796
  • Gastroenterologia y Hepatologia, Clinical usefulness of the detection of mutations of the HFE gene in hemochromatosis
    Name: Oliva, R.; Sánchez, M.; Bruguera, M.; Rodes, J. Role: Autor Publishing date: 2000
    Start page: 433 End page: 435 Vol.: 23 No.: 9
    ISSN or title: 0210-5705
  • Genetic testing, Hereditary Hemochromatosis in Spain
    Name: Sánchez, M.; Bruguera, M.; Quintero, E.; Barrio, Y.; Mazzara, R.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 2000
    Start page: 171 End page: 176 Vol.: 4 No.: 2
    DOI: https://dx.doi.org/10.1089/10906570050114885 ISSN or title: 1090-6576
  • Gene, Cloning, sequencing and characterization of the rat HFE promoter. Comparison of the human, mouse and rat hemochromatosis HFE promoter regions
    Name: Sánchez, M.; Queralt, R.; Bruguera, M.; Rodes, J.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 77 End page: 87 Vol.: 225 No.: 1-2
    DOI: https://dx.doi.org/10.1016/S0378-1119(98)00519-8 ISSN or title: 0378-1119
  • Journal of hepatology, revalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls
    Name: Sánchez, M.; Bruguera, M.; Bosch, J.; Rodes, J.; Ballesta, F.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 725 End page: 728 Vol.: 29 No.: 5
    ISSN or title: 0168-8278
  • Biochemical and biophysical research communications, Identification of conserved potentially regulatory sequences of the SRY gene from different species of mammals
    Name: Margarit, E.; Guillem, A.; Rebordosa, C.; Vidal-Taboada, J.; Sánchez, M.; Ballesta, F.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 370 End page: 377 Vol.: 245 No.: 2
    DOI: https://dx.doi.org/10.1006/bbrc.1998.8441 ISSN or title: 0006-291X
  • Biochemical and biophysical research communications, High resolution mapping and identification of transcribed sequences in the Down Syndrome region-2
    Name: Vidal-Taboada, J.; Bergoñon, S.; Sánchez, M.; López-Acedo, C.; Groet, J.; Nižetić, D.; Egeo, A.; Scartezzini, P.; Katsanis, N.; Fisher, E.; Delabar, J.M.; Oliva, R. Role: Autor Publishing date: 1998
    Start page: 572 End page: 578 Vol.: 243 No.: 2
    DOI: https://dx.doi.org/10.1006/bbrc.1998.8141 ISSN or title: 0006-291X
  • Capítulo 19 Hemocromatosis. Eritropatología. 2nd Edition.
    Name: Sánchez, M. Role: Autor Publishing date: 31/05/2024
    Start page: 501 End page: 516
    ISBN: 978-84-125780-7-2
  • Capítulo Anemias Sideroblásticas Congénitas.. Guía de Recomendaciones para el Diagnóstico Genético y Seguimiento de Neoplasias Hematológicas
    Name: Anguita, E.; Sánchez, M. Role: Autor Publishing date: 02/10/2017
  • Capítulo Hemocromatosis. Guía de recomendaciones para el diagnóstico genético y seguimiento de neoplasias
    Name: Sánchez, M.; Blas-López, C. Role: Autor Publishing date: 02/10/2017
  • Capítulo 30 Hemocromatosis Hereditaria. Eritropatología
    Name: Sánchez, M.; Altés, A. Role: Autor Publishing date: 11/09/2017
    Start page: 569 End page: 582
    ISBN: 978-84-945945-4-0
  • Capítulo 8 Anemias sideroblásticas congénitas.. Eritropatología
    Name: Sánchez, M. Role: Autor Publishing date: 11/09/2017
    ISBN: 978-84-945945-4-0
  • Capítulo 33. Anemias sideroblásticas congénitas. Manual Práctico de Genética Hematológica
    Name: Anguita, E.; Sánchez, M. Role: Autor Publishing date: 01/06/2016
    ISBN: 9788460857570
  • Capítulo 36. Hemocromatosis. Manual Práctico de Genética Hematológica
    Name: Sánchez, M.; Renedo-Gancedo, M.; Oliva, R.; Blas-López, C. Role: Autor Publishing date: 01/06/2016
    ISBN: 9788460857570
  • Tema 3. Trastornos del hierro en el organismo y métodos de estudio. Dentro del Módulo 4. Anemia y Poliglobulia.. Experto en bases del diagnóstico en Hematología
    Name: Sánchez, M. Role: Autor Publishing date: 01/05/2016
    ISBN: 9788491100317
  • Capítulo 15: Métodos para el diagnóstico de la ferropenia y el exceso de hierro. Manual de técnicas de laboratorio en hematología
    Name: Sánchez, M.; Vives-Corrons, J.L. Role: Autor Publishing date: 01/06/2014
    Start page: 390 End page: 433
    ISBN: 987-84-458-2147-3
  • Hereditary non-sideroblastic Anemia and Inherited Iron disorders. ENERCA reccommendations for Centres of Expertise in rare anaemias: A White Book
    Name: Sánchez, M. Role: Autor Publishing date: 01/05/2014
    ISBN: 978-84-939018-8-1
  • Capitulo 31. Práctica 6: bases de dades i d'anàlisi de seqüències a internet. Genética Médica
    Name: Oliva, R.; Vidal-Taboada, J.; Sánchez, M. Role: Autor Publishing date: 01/05/2013
    ISBN: 978-84-475-3688-7
  • Cellular Iron Metabolism- the IRP/IRE regulatory network. Iron Metabolism
    Name: Joshi, R.; Morán, E.; Sánchez, M. Role: Autor Publishing date: 01/05/2012
    Start page: 25 End page: 58
    ISBN: 978-953-51-0650-0
  • Capitol 29: Base de dades i d'anàlisis de seqüències a internet. Genètica Mèdica
    Name: Vidal-Taboada, J.; Sánchez, M.; Oliva, R. Role: Autor Publishing date: 01/01/2004
    ISBN: 84-475-2809-X
Course 2024-2025 - Period: 01/09/2024 - 31/08/2025
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Clinical Genetics
    • - Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Research On Rare Diseases
Course 2023-2024 - Period: 01/09/2023 - 31/08/2024
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
  • Official Master
    University Master's Degree in Experimental Biomedical Research
    • - Research On Rare Diseases
Course 2022-2023 - Period: 01/09/2022 - 31/08/2023
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2021-2022 - Period: 01/09/2021 - 31/08/2022
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2020-2021 - Period: 01/09/2020 - 31/08/2021
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Cell Biology II
    • - Clinical Genetics
    Bachelor's Degree in Dentistry
    • - Human Biology 1
Course 2019-2020 - Period: 01/09/2019 - 31/08/2020
  • Bachelor’s Degree
    Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Cell Biology II
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
Course 2018-2019 - Period: 01/09/2018 - 31/08/2019
  • Bachelor’s Degree
    Bachelor's Degree in Dentistry
    • - Human Biology 1
    Bachelor's Degree in Medicine
    • - Introduction to Medical Genetics
  • Others
    UIC - Specific Bachelor's Degree in Biomedical Sciences
    • - Genetics
    • - Integrated Biomedicine I