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Our teaching and research team
SÁNCHEZ FERNÁNDEZ, Mayka
Professor
Agregat o Titular
DEPARTMENT OF BASIC SCIENCIES
Department of
Basic Areas
Hereditary Hematology and Iron metabolism
Contact
Ext.
5263
Academic training
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Doctora en Biologia- Genètica
- Universitat de Barcelona
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Licenciada en Bioquímica
- Universitat de Barcelona
Projects
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AVANCES EN DIAGNOSTICO Y TERAPIA PARA ENFERMEDADES HEMATOLOGICAS HEREDITARIAS RARAS (ARETHA)
PI: Sánchez, M. Start date: 01/01/2022 End date: 31/12/2025Financing 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: 31/08/2025Financing 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: 30/11/2024Financing 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: 31/12/2023Financing 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: 31/12/2023Financing 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: 15/05/2023Financing 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: 31/12/2021Financing 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: 31/12/2021Financing 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: 31/12/2021Financing 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: 01/03/2020Financing entity: Fundación Ramón Areces Financing entity code: CIVP18A1857
Projects
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Convenio APU-ADISCON-UIC
PI: Sánchez, M. Start date: 01/12/2018 End date: 30/11/2023Financing entity: Fundación Pablo Ugarte -
Convenio APU-ADISCON-IJC
PI: Sánchez, M. Start date: 03/08/2015 End date: 30/11/2018Financing entity: Fundación Pablo Ugarte
Publications
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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: 2024Vol.: 8 No.: 7DOI: 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: 2023Start page: 2111 End page: 2130 Vol.: 5DOI: 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: 2023Vol.: 24 No.: 12DOI: 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: 2023Vol.: 24 No.: 12DOI: 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: 2023Start page: 581 End page: 587 Vol.: 108 No.: 2DOI: 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: 2023DOI: 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: 2022ISSN 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: 2022Start page: 459 End page: 459 Vol.: 198 No.: 3DOI: 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: 2022Vol.: 6 No.: 6DOI: 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: 2022Vol.: 23 No.: 8DOI: 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: 2021Vol.: 12 No.: 12DOI: 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: 2021Vol.: 12 No.: 12DOI: 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: 2021Vol.: 22 No.: 11DOI: 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: 2021Vol.: 22 No.: 11DOI: 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: 2021Start page: 2030 End page: 2033 Vol.: 106 No.: 7DOI: 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: 2021Vol.: 138 No.: 1DOI: 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: 2020Vol.: 4 No.: 5DOI: 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: 2020Vol.: 21 No.: 7DOI: 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: 2020Vol.: 136 No.: 1DOI: 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: 2019Vol.: 10DOI: 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: 2019Vol.: 12 No.: 1DOI: 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: 2018Start page: 2008 End page: 2015 Vol.: 103 No.: 12DOI: 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: 2018Start page: 83 End page: 88 Vol.: 12 No.: 2DOI: 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: 2017Start page: 1 End page: 10 Vol.: 7 No.: 18025DOI: 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: 2017Start page: 1934 End page: 1945 Vol.: 130 No.: 17DOI: 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: 2017Start page: 49 End page: 60 Vol.: 1 No.: 1ISSN 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: 2016Start page: 115 End page: 208 Vol.: 101 No.: 2DOI: 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: 2015Start page: 221 End page: 232 Vol.: 3 No.: 3DOI: 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: 2014Start page: 1321 End page: 1329 Vol.: 35 No.: 11DOI: 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: 2014Start page: 86 End page: 92 Vol.: 96 No.: 1DOI: 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: 2014Start page: 412 End page: 417 Vol.: 142 No.: 9DOI: 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: 2014Vol.: 9 No.: 1DOI: 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: 2013Start page: 404 End page: 407 Vol.: 163 No.: 3DOI: 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: 2013Start page: 845 End page: 853 Vol.: 98 No.: 6DOI: 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: 2013Vol.: 8DOI: 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: 2012Start page: 1209 End page: 1221 Vol.: 90 No.: 10DOI: 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: 2011Start page: e168 End page: e179 Vol.: 118 No.: 22DOI: 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: 2011Start page: 1127 End page: 1134 Vol.: 216 No.: 10DOI: 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: 2011Start page: 808 End page: 813 Vol.: 96 No.: 6DOI: 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: 2010Start page: W360 End page: W367 Vol.: 38 No.: sup. 2DOI: 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: 2010Vol.: 11DOI: 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: 2009Start page: 3673 End page: 3683 Vol.: 18 No.: 19DOI: 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: 2007Start page: 2776 End page: 2777 Vol.: 110 No.: 7DOI: 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: 2007Start page: 2033 End page: 2042 Vol.: 2 No.: 8DOI: 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: 2007Start page: 420 End page: 426 Vol.: 14 No.: 5DOI: 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: 2006Start page: 22865 End page: 22874 Vol.: 281 No.: 32DOI: 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: 2004Start page: 111 End page: 114 Vol.: 24 No.: 2DOI: 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: 2004Start page: 481 End page: 485 Vol.: 36 No.: 5DOI: 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: 2003Start page: 745 End page: 750 Vol.: 38 No.: 6DOI: 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: 2001Start page: 35 End page: 43 Vol.: 27 No.: 1DOI: 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: 2000Start page: 433 End page: 435 Vol.: 23 No.: 9ISSN 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: 2000Start page: 171 End page: 176 Vol.: 4 No.: 2DOI: 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: 1998Start page: 77 End page: 87 Vol.: 225 No.: 1-2DOI: 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: 1998Start page: 725 End page: 728 Vol.: 29 No.: 5ISSN 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: 1998Start page: 370 End page: 377 Vol.: 245 No.: 2DOI: 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: 1998Start page: 572 End page: 578 Vol.: 243 No.: 2DOI: https://dx.doi.org/10.1006/bbrc.1998.8141 ISSN or title: 0006-291X
Publications
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Capítulo 19 Hemocromatosis. Eritropatología. 2nd Edition.
Name: Sánchez, M. Role: Autor Publishing date: 31/05/2024Start page: 501 End page: 516ISBN: 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: 11/09/2017Start page: 569 End page: 582ISBN: 978-84-945945-4-0 -
Capítulo 8 Anemias sideroblásticas congénitas.. Eritropatología
Name: Sánchez, M. Role: Autor Publishing date: 11/09/2017ISBN: 978-84-945945-4-0 -
Capítulo 33. Anemias sideroblásticas congénitas. Manual Práctico de Genética Hematológica
Name: Anguita, E.; Sánchez, M. Role: Autor Publishing date: 01/06/2016ISBN: 9788460857570 -
Capítulo 36. Hemocromatosis. Manual Práctico de Genética Hematológica
Name: Sánchez, M.; Renedo-Gancedo, M.; Oliva, R.; Blas-López, C. Role: Autor Publishing date: 01/06/2016ISBN: 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: 01/05/2016ISBN: 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: 01/06/2014Start page: 390 End page: 433ISBN: 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: 01/05/2014ISBN: 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: 01/05/2013ISBN: 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: 01/05/2012Start page: 25 End page: 58ISBN: 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: 01/01/2004ISBN: 84-475-2809-X
Subjects taught
Course 2024-2025 - Period: 01/09/2024 - 31/08/2025
-
Bachelor’s Degree
Bachelor's Degree in Biomedical Sciences- - Clinical Genetics
- - Genetics
- - 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
- - 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
- - 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
- - 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
- - 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
- - Human Biology 1
- - 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
- - Introduction to Medical Genetics
-
Others
UIC - Specific Bachelor's Degree in Biomedical Sciences- - Genetics
- - Integrated Biomedicine I
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Doctora en Biologia- Genètica
- Universitat de Barcelona
-
Licenciada en Bioquímica
- Universitat de Barcelona
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AVANCES EN DIAGNOSTICO Y TERAPIA PARA ENFERMEDADES HEMATOLOGICAS HEREDITARIAS RARAS (ARETHA)
PI: Sánchez, M. Start date: 01/01/2022 End date: 31/12/2025Financing 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: 31/08/2025Financing 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: 30/11/2024Financing 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: 31/12/2023Financing 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: 31/12/2023Financing 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: 15/05/2023Financing 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: 31/12/2021Financing 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: 31/12/2021Financing 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: 31/12/2021Financing 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: 01/03/2020Financing entity: Fundación Ramón Areces Financing entity code: CIVP18A1857
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Convenio APU-ADISCON-UIC
PI: Sánchez, M. Start date: 01/12/2018 End date: 30/11/2023Financing entity: Fundación Pablo Ugarte -
Convenio APU-ADISCON-IJC
PI: Sánchez, M. Start date: 03/08/2015 End date: 30/11/2018Financing entity: Fundación Pablo Ugarte
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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: 2024Vol.: 8 No.: 7DOI: 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: 2023Start page: 2111 End page: 2130 Vol.: 5DOI: 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: 2023Vol.: 24 No.: 12DOI: 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: 2023Vol.: 24 No.: 12DOI: 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: 2023Start page: 581 End page: 587 Vol.: 108 No.: 2DOI: 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: 2023DOI: 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: 2022ISSN 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: 2022Start page: 459 End page: 459 Vol.: 198 No.: 3DOI: 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: 2022Vol.: 6 No.: 6DOI: 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: 2022Vol.: 23 No.: 8DOI: 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: 2021Vol.: 12 No.: 12DOI: 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: 2021Vol.: 12 No.: 12DOI: 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: 2021Vol.: 22 No.: 11DOI: 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: 2021Vol.: 22 No.: 11DOI: 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: 2021Start page: 2030 End page: 2033 Vol.: 106 No.: 7DOI: 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: 2021Vol.: 138 No.: 1DOI: 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: 2020Vol.: 4 No.: 5DOI: 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: 2020Vol.: 21 No.: 7DOI: 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: 2020Vol.: 136 No.: 1DOI: 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: 2019Vol.: 10DOI: 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: 2019Vol.: 12 No.: 1DOI: 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: 2018Start page: 2008 End page: 2015 Vol.: 103 No.: 12DOI: 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: 2018Start page: 83 End page: 88 Vol.: 12 No.: 2DOI: 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: 2017Start page: 1 End page: 10 Vol.: 7 No.: 18025DOI: 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: 2017Start page: 1934 End page: 1945 Vol.: 130 No.: 17DOI: 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: 2017Start page: 49 End page: 60 Vol.: 1 No.: 1ISSN 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: 2016Start page: 115 End page: 208 Vol.: 101 No.: 2DOI: 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: 2015Start page: 221 End page: 232 Vol.: 3 No.: 3DOI: 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: 2014Start page: 1321 End page: 1329 Vol.: 35 No.: 11DOI: 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: 2014Start page: 86 End page: 92 Vol.: 96 No.: 1DOI: 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: 2014Start page: 412 End page: 417 Vol.: 142 No.: 9DOI: 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: 2014Vol.: 9 No.: 1DOI: 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: 2013Start page: 404 End page: 407 Vol.: 163 No.: 3DOI: 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: 2013Start page: 845 End page: 853 Vol.: 98 No.: 6DOI: 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: 2013Vol.: 8DOI: 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: 2012Start page: 1209 End page: 1221 Vol.: 90 No.: 10DOI: 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: 2011Start page: e168 End page: e179 Vol.: 118 No.: 22DOI: 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: 2011Start page: 1127 End page: 1134 Vol.: 216 No.: 10DOI: 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: 2011Start page: 808 End page: 813 Vol.: 96 No.: 6DOI: 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: 2010Start page: W360 End page: W367 Vol.: 38 No.: sup. 2DOI: 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: 2010Vol.: 11DOI: 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: 2009Start page: 3673 End page: 3683 Vol.: 18 No.: 19DOI: 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: 2007Start page: 2776 End page: 2777 Vol.: 110 No.: 7DOI: 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: 2007Start page: 2033 End page: 2042 Vol.: 2 No.: 8DOI: 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: 2007Start page: 420 End page: 426 Vol.: 14 No.: 5DOI: 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: 2006Start page: 22865 End page: 22874 Vol.: 281 No.: 32DOI: 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: 2004Start page: 111 End page: 114 Vol.: 24 No.: 2DOI: 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: 2004Start page: 481 End page: 485 Vol.: 36 No.: 5DOI: 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: 2003Start page: 745 End page: 750 Vol.: 38 No.: 6DOI: 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: 2001Start page: 35 End page: 43 Vol.: 27 No.: 1DOI: 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: 2000Start page: 433 End page: 435 Vol.: 23 No.: 9ISSN 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: 2000Start page: 171 End page: 176 Vol.: 4 No.: 2DOI: 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: 1998Start page: 77 End page: 87 Vol.: 225 No.: 1-2DOI: 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: 1998Start page: 725 End page: 728 Vol.: 29 No.: 5ISSN 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: 1998Start page: 370 End page: 377 Vol.: 245 No.: 2DOI: 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: 1998Start page: 572 End page: 578 Vol.: 243 No.: 2DOI: https://dx.doi.org/10.1006/bbrc.1998.8141 ISSN or title: 0006-291X
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Capítulo 19 Hemocromatosis. Eritropatología. 2nd Edition.
Name: Sánchez, M. Role: Autor Publishing date: 31/05/2024Start page: 501 End page: 516ISBN: 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: 11/09/2017Start page: 569 End page: 582ISBN: 978-84-945945-4-0 -
Capítulo 8 Anemias sideroblásticas congénitas.. Eritropatología
Name: Sánchez, M. Role: Autor Publishing date: 11/09/2017ISBN: 978-84-945945-4-0 -
Capítulo 33. Anemias sideroblásticas congénitas. Manual Práctico de Genética Hematológica
Name: Anguita, E.; Sánchez, M. Role: Autor Publishing date: 01/06/2016ISBN: 9788460857570 -
Capítulo 36. Hemocromatosis. Manual Práctico de Genética Hematológica
Name: Sánchez, M.; Renedo-Gancedo, M.; Oliva, R.; Blas-López, C. Role: Autor Publishing date: 01/06/2016ISBN: 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: 01/05/2016ISBN: 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: 01/06/2014Start page: 390 End page: 433ISBN: 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: 01/05/2014ISBN: 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: 01/05/2013ISBN: 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: 01/05/2012Start page: 25 End page: 58ISBN: 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: 01/01/2004ISBN: 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
- - 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
- - 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
- - 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
- - 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
- - 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
- - Human Biology 1
- - Introduction to Medical Genetics