Notice: Function _load_textdomain_just_in_time was called incorrectly. Translation loading for the google-analytics-for-wordpress domain was triggered too early. This is usually an indicator for some code in the plugin or theme running too early. Translations should be loaded at the init action or later. Please see Debugging in WordPress for more information. (This message was added in version 6.7.0.) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php on line 6114 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 Warning: Cannot modify header information - headers already sent by (output started at /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/functions.php:6114) in /customers/9/e/2/bloodgenetics.com/httpd.www/wp-includes/rest-api/class-wp-rest-server.php on line 1893 {"id":2727,"date":"2024-01-20T19:30:37","date_gmt":"2024-01-20T19:30:37","guid":{"rendered":"https:\/\/bloodgenetics.com\/?page_id=2727"},"modified":"2024-02-17T21:37:53","modified_gmt":"2024-02-17T21:37:53","slug":"publications-in-scientific-journals","status":"publish","type":"page","link":"https:\/\/bloodgenetics.com\/publications-in-scientific-journals\/","title":{"rendered":"Publications in Scientific Journals"},"content":{"rendered":"

Publications in Scientific Journals<\/strong><\/h3>\n
    \n
  1. Hern\u00e1ndez G, Romero-Cortadellas L, Ferrer-Cort\u00e8s X, Venturi V, Dessy-Rodriguez M, Olivella M, Husami A, De Soto CP, Morales-Camacho RM, Villegas A, Gonz\u00e1lez-Fern\u00e1ndez FA, Morado M, Kalfa TA, Quintana-Bustamante O, P\u00e9rez-Montero S, Tornador C, Segovia JC, S\u00e1nchez M. Mutations in the\u00a0RACGAP1<\/i>\u00a0gene cause autosomal recessive congenital dyserythropoietic anemia type III. Haematologica. 2023 Feb 1;108(2):581-587. doi: 10.3324\/haematol.2022.281277. PMID: 36200420; PMCID: PMC9890003.<\/li>\n
  2. \n

    Maus M, L\u00f3pez-Polo V, Mateo L, Lafarga M, Aguilera M, De Lama E, Meyer K, Sola A, Lopez Martinez C, L\u00f3pez-Alonso I, Guasch-Piqueras M, Hernandez-Gonzalez F, Chaib S, Rovira M, Sanchez M, Faner R, Agusti A, Di\u00e9guez Hurtado R, Ortega S, Manonelles A, Monteiro F, Stephan-Otto Attolini C, Prats N, Albaiceta G, Cruzado JM, Serrano M. Iron accumulation drives fibrosis, senescence, and the senescence-associated secretory phenotype. Nature Metabolism 2023. Accepted on 1st August 2023. IF (2022): 20.8, Q1. D1. Cites: 3<\/p>\n<\/li>\n

  3. Romero-Cortadellas L, Venturi V, Mart\u00edn-S\u00e1nchez JC, Toska K, Prince D, Butzeck B, Porto G, Milman NT, HI\/EFAPH Survey Committee, S\u00e1nchez M. Hemochromatosis patients\u2019 research priorities: towards an improved quality of life. Health Expect. 2023 Jul 28. doi: 10.1111\/hex.13830. Online ahead of print. PMID: 37503783.\u00a0 IF in 2022: 3.2 Q2.<\/li>\n
  4. Musri MM*, Venturi V*, Ferrer-Cort\u00e8s X, Romero-Cortadellas L, Hern\u00e1ndez G, Leoz P, Ricard Andr\u00e9s MP, Morado M, Fern\u00e1ndez Valle MC, Beneitez Pastor D, Ortu\u00f1o Cabrero A, Moreno Gamiz M, Senent Peris L, Perez-Valencia AI, P\u00e9rez-Montero S, Tornador C, S\u00e1nchez M. New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II. Int. J. Mol. Sci. 2023, 24(12), 9935. https:\/\/doi.org\/10.3390\/ijms24129935. IF in 2022: 5.6, Q1.<\/li>\n
  5. Hern\u00e1ndez G*, Romero-Cortadellas L*, Ferrer-Cort\u00e8s X, Venturi V, Dessy-Rodriguez M, Olivella M, Husami A, P\u00e9rez de Soto C, Morales-Camacho R-M, Villegas A, Gonz\u00e1lez-Fern\u00e1ndez F-A, Morado M, Kalfa T-A, Quintana-Bustamante O, P\u00e9rez-Montero S, Tornador C, Segovia J-C, S\u00e1nchez M. Mutations in the RACGAP1 gene cause autosomal recessive Congenital Dyserythropoietic Anemia type III. Haematologica. 2023 Feb 1;108(2):581-587. doi: 10.3324\/haematol.2022.281277. IF: 10.1, Q1. D1. \u00a0Category: HEMATOLOGY.<\/li>\n
  6. Roy NBA, Da Costa L, Russo R, Bianchi P, Del Mar Ma\u00f1\u00fa-Pereira M, Fermo E, Andolfo I, Clark B, Proven M, Sanchez M, van Wijk R, van der Zwaag B, Layton M, Rees D, Iolascon A. The Use of Next generation Sequencing in the Diagnosis of Rare Inherited Anaemias: A Joint BSH\/EHA Good Practice Paper. Hemasphere. 2022 Jun 6;6(6):e739. doi: 10.1097\/HS9.0000000000000739. IF: 6.6. Q1.<\/li>\n
  7. Romero-Cortadellas L,* Hern\u00e1ndez G*, Ferrer-Cort\u00e8s X, Zalba-Jadraque L, Fuster JL, Berm\u00fadez-Cort\u00e9s M, Galera-Mi\u00f1arro AM, P\u00e9rez-Montero S, Tornador C, S\u00e1nchez M. New cases of hypochromic microcytic anemia due to mutations in the SLC11A2 gene and functional characterization of the G75R mutation. Int J Mol Sci. 2022 Apr 15;23(8):4406.\u00a0 doi: 10.3390\/ijms23084406. IF: 5.6. Q1.<\/li>\n
  8. Roy NBA, Da Costa L, Russo R, Bianchi P, Ma\u00f1\u00fa-Pereira MM, Fermo E, Andolfo I, Clark B, Proven M, Sanchez M, van Wijk R, van der Zwaag A, Layton M, Rees D, Iolascon A. The use of Next-Generation Sequencing (NGS) in the diagnosis of rare inherited anaemias. A British Society for Haematology Good Practice Paper. British Journal of Haematology 2022 Jun 6. doi: 10.1111\/bjh.18191; IF: 6.5 Q1 (Hematology)<\/li>\n
  9. Hern\u00e1ndez G, Ferrer-Cort\u00e8s X, Venturi V, Musri M, Pilquil MF, Torres PMM, Rodr\u00edguez IH, M\u00ednguez M\u00c0R, Kelleher NJ, Pelucchi S, Piperno A, Alberca EP, Ric\u00f3s GG, Gir\u00f3 EC, P\u00e9rez-Montero S, Tornador C, Vill\u00e0-Freixa J, Sanchez M*. New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis. Genes (Basel). 2021 Dec 13;12(12):1980. doi:10.3390\/genes12121980. PMID: 34946929; PMCID: PMC8702017. \u00a0IF: 4.141, Q2. Category: Genetics &amp; Heredity (SCIE). \u00a0\u00a0Cites: 2 (Google Scholar Jul 2022).<\/li>\n
  10. Girelli D, Busti F, Brissot P, Cabantchik I, Muckenthaler MU, Porto G. Hemochromatosis classification: update and recommendations by the BIOIRON Society. Blood. 2022 May 19;139(20):3018-3029. doi: 10.1182\/blood.2021011338. PMID: 34601591. All contributed authors in alphabetical order: Members of the Nomenclature Committee of the International Society for the Study of Iron in Biology and Medicine \u2013 BIOIRON Society (alphabetical order): Paul C Adams , Edouard Bardou-Jacquet , Patricia Bignell , Pierre Brissot , Fabiana Busti , Barbara Butzeck , Ioav Cabantchik , Clara Camaschella , Robert Evans , Robert Fleming, Tomas Ganz, Domenico Girelli, Olivier Lor\u00e9al, Giacomo Marchi, Martina U. Muckenthaler, Elizabeta Nemeth, Antonello Pietrangelo, Alberto Piperno, Gra\u00e7a Porto, Dianne Prince , John D. Ryan , Mayka Sanchez , Paulo Santos, Dorine W. Swinkels, Heinz Zoller. IF: 20.3, Q1, D1. Category: HEMATOLOGY. Cites: 51<\/li>\n
  11. Celma-Nos F*, Hern\u00e1ndez G*, Ferrer\u2010Cort\u00e8s X, Hernandez\u2010Rodriguez I, Navarro\u2010Almenzar B, Fuster J.L., Mar Berm\u00fadez-Cort\u00e9s M 5, P\u00e9rez\u2010Montero S, Tornador C,\u00a0 Sanchez M. Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease\u2014Report\u00a0 \u00a0 of New Cases. International Journal of Molecular Sciences. Int J Mol Sci. 2021. 22(11), 5451. doi:10.3390\/ijms22115451. PMID: 34064225; PMCID: PMC8196845. \u00a0IF in 2021: 6.208. Q1. revisar q para 2021, Q1 in 2020 (74\/297 (Q1) in \u2018Biochemistry &amp; Molecular Biology\u2019 according to an email by IJMS). Cites: 2 (Google Scholar Jul 2022).<\/li>\n
  12. Ducamp S*, Luscieti S*, Ferrer-Cort\u00e8s X, Nicolas G, Manceau H, Peoc\u2019h K, Yien YY, Kannengiesser C, Gouya L, Puy H** and Sanchez M**. A mutation in the Iron-Responsive Element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated Erythropoietic Protoporphyria. Haematologica. 2021 Jul 1;106(7):2030-2033. doi: 10.3324\/haematol.2020.272450. Epub ahead of print. PMID: 33596641. IF in 2021: 11.04, Q1. D1. \u00a0Category: HEMATOLOGY. Cites: 3 (Google Scholar Jul 2022).<\/li>\n
  13. Tybl E, Gunshin H, Gupta S, Barrientos T, Bonadonna M, Celma Nos F, Palais G, Karim Z, Sanchez M, Andrews NC, Galy B. Control of Systemic Iron Homeostasis by the 3&#39; Iron-Responsive Element of Divalent Metal Transporter 1 in Mice. Hemasphere. 2020 Sep 23;4(5):e459. doi: 10.1097\/HS9.0000000000000459. PMID: 33062942; PMCID: PMC7523796. First IF obtained in 2021: IF in 2021: 8.3. Q1. Cites: 5 (Google Scholar Jul 2022).<\/li>\n
  14. Vila Cuenca M, Marchi G, Barqu\u00e9 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, Jov\u00e9 Buxeda E, Sanchez-Delgado J, Baena-D\u00edez 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, Sanchez M. Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis. Int J Mol Sci. 2020 Mar 30;21(7). pii: E2374. doi: 10.3390\/ijms21072374. PubMed PMID: 32235485. IF: 5,924. Q1 (74\/298 in \u2018Biochemistry &amp; Molecular Biology\u2019). Cites: 15 (Google Scholar Jul 2022).<\/li>\n
  15. Tornador C, S\u00e1nchez-Prados E, Cadenas B, Russo R, Venturi V, Andolfo I, Hern\u00e1ndez-Rodriguez I, Iolascon A, Sanchez M. CoDysAn: A telemedicine tool to improve awareness and diagnosis for patients with Congenital Dyserythropoietic Anemia. Frontiers in Physiology 2019; 10:1063 . doi: 10.3389\/fphys.2019.01063.10:1063. JCR-Science Edition\u00a0 –\u00a0 2019\u00a0 –\u00a0 3.367. PHYSIOLOGY – Q1. Cites: 6 (Google Scholar Jul 2022).<\/li>\n
  16. Cadenas B, Fita-Torr\u00f3 J, Berm\u00fadez-Cort\u00e9s M, Hernandez-Rodriguez I, Fuster JL, Linares ME, Galera AM, Romero JL, P\u00e9rez-Montero S, Tornador C, Sanchez M. L-Ferritin, one gene – five diseases; from hereditary hyperferritinaemia to hypoferritinaemia. Report of new cases.\u00a0 Pharmaceuticals (Basel). 2019 Jan 23;12(1). pii: E17. doi: 10.3390\/ph12010017. PMID: 30678075; PMCID: PMC6469184. IF: 4.286, JCR category rank: 49\/270 (Q1) in &#39;Pharmacology &amp; Pharmacy&#39;. Cites: 15 (Google Scholar Jul 2022).<\/li>\n
  17. Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings A, Simons A, Schaap M, Richard Roodenburg R, Kleefstra T, Arenillas L, \u00a0Fita-Torr\u00f3 J, Ahmed R, Abboud M, Bechara E, Farah R, Tamminga RYJ, Bottomley SS, Sanchez M,
    \nSwinkels DW, Christodoulou J, Fleming MD. The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrila myopathy, lactic acidosis and sideroblastic anemia. Haematologica 2018. IF: 7.570, Q1. D1. Category: HEMATOLOGY. Cites: 18 (Google Scholar Jul 2022).<\/li>\n
  18. Adams P, Altes A, Brissot P, Butzeck B, Cabantchik I, Can\u00e7ado 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, Sanchez M, Santos P, Swinkels D, Teixeira E, Toska K, Vanclooster A, White D; Contributors and Hemochromatosis International Taskforce. Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y\/C282Y) homozygous genotype. Hepatol Int. 2018 Mar;12(2):83-86. doi: 10.1007\/s12072-018-9855-0. Epub 2018 Mar 27. PubMed PMID: 29589198. Authors in alphabetical order. IF: 5.490, Q1. Category: GASTROENTEROLOGY &amp; HEPATOLOGY. Cites: 44 (Google Scholar Jun 2022).<\/li>\n
  19. Van de Sompele S, P\u00e9cheux L, Couso J, Meunier A, Sanchez M*, De Baere E*. Functional characterization of a novel non-coding mutation \u201cGhent +49A&gt;G\u201d in the iron-responsive element of L-ferritin causing hereditary hyperferritinaemia-cataract s\u00edndrome. Scientific Report 2017 Dec 21;7(1):18025.\u00a0 *Last co-corresponding author. Q1. IF: 5,228. Category: MULTIDISCIPLINARY SCIENCES. Cites: 5 (Google Scholar Jul 2022).<\/li>\n
  20. Luscieti S, et al. 2017. The actin binding protein profilin 2 is a novel regulator of iron homeostasis. Blood<\/span> PMID 28774878<\/span><\/a>.<\/span><\/li>\n
  21. Barqu\u00e9 A, Sanchez M. Cuando el hierro es t\u00f3xico (2017). Revista Gen\u00e9tica M\u00e9dica y Gen\u00f3mica, Num. 1 Vol 1 Pag 49-60. Publicado 25 abril 2017.<\/span><\/li>\n
  22. Sorigue, M.; et al. 2017. Retinal vein occlusion and paroxysmal nocturnal hemoglobinuria.Journal of thrombosis and thrombolysis. ISSN 1573-742X.<\/span><\/li>\n
  23. Baptista, MJ.; et al. 2017. Monosomal karyotype in chronic lymphocytic leukemia: association with clinical and biological features and potential prognostic significance. American journal of hematology. ISSN 1096-8652.<\/span><\/li>\n
  24. Palau, A.; et al. 2017. Immunophenotypic, cytogenetic, and mutational characterization of cell lines derived from myelodysplastic syndrome patients after progression to acute myeloid leukemia.Genes, chromosomes & cancer. 56-3, pp.243-252. ISSN 1098-2264.<\/span><\/li>\n
  25. Mart\u00edn Alcolea, M.; et al. 2017. Chronic proton pump inhibition therapy in the diagnostic accuracy of serum pepsinogen I and gastrin concentrations to identify pernicious anaemia.Clinical biochemistry. ISSN 1873-2933.<\/span><\/li>\n
  26. Junc\u00e0, J.; et al. 2016. CD34 expression and the outcome of nucleophosmin 1-mutated acute myeloid leukemia.Annals of hematology. Springer. ISSN 1432-0584.<\/span><\/li>\n
  27. Andreas Engert, Carlo Balduini, Anneke Brand, Bertrand Coiffier, Catherine Cordonnier, Hartmut D\u00f6hner, Thom Duyven\u00e9 de Wit, Sabine Eichinger, Willem Fibbe, Tony Green, Fleur de Haas, Achille Iolascon, Thierry Jaffredo, Francesco Rodeghiero, Gilles Salles, Jan Jacob Schuringa, Carin Smand, and remaining EHA Roadmap for European Hematology Research authors. The European Hematology Association Roadmap for European Hematology Research. A Consensus Document. <\/span>Haematologica<\/span><\/i> 2016. Feb;101(2):115-208. doi: 10.3324\/haematol.2015.136739. Epub 2016 Jan 27. IF: 5.814 (JCR 2014), D1.<\/span><\/li>\n
  28. Junc\u00e0, J.; et al. 2015. Blunted erythropoietic response in the anemia of anorexia nervosa.Medicina cli\u0301nica. Elsevier. 145-10, pp.433-438. ISSN 0025-7753.<\/span><\/li>\n
  29. Britos Franco, P.; et al. 2015. Translocation (18;22)(q21;q11.2) in B-cell lymphoproliferative disorders: a report of six cases.Leukemia & lymphoma. Taylor & Francis Online. 56-3, pp.789-881. ISSN 1029-2403.<\/span><\/li>\n
  30. Joshi R*, Shvartsman M*, Mor\u00e1n E, Lois S, Aranda J, Barqu\u00e9 A, de la Cruz X, Bruguera M, Vagace JM, Gervasini G, Sanz C, S\u00e1nchez M. Functional consequences of transferrin receptor-2 mutations causing Hereditary Hemochromatosis type 3. <\/span>Molecular Genetics & Genomic Medicine<\/span><\/i> 2015 May;3(3):221-32. doi: 10.1002\/mgg3.136. Epub 2015 Mar 6. IF: 2.728 (JCR 2014)<\/span><\/li>\n
  31. De FalcoL, Silvestri L, Kannengiesser C, Mor\u00e1n 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, Sanchez M. Functional and clinical impact of novel TMPRSS6 mutations in Iron-Refractory Iron-Deficiency Anaemia patients and genotype-phenotype studies. <\/span>Hum Mutat.<\/span><\/i> 2014 35(11):1321-9 doi: 10.1002\/humu.22632. IF: 5.340, Q1 26\/164 Category: Genetics and Heredity.<\/span><\/li>\n
  32. Teixeira E, Borlido-Santos J, Brissot P, Butzeck B, Courtois F, Evans RW, Fernau J, Nunes JA, Mullett M, Paneque M, Pineau B, Porto G, Sorrill R, Sanchez M, Swinkels DW, Toska K, Varkonyi J; the EFAPH, the European Federation of Associations of Patients with Haemochromatosis.<\/span> The importance of the general practitioner as an information source for patients with hereditary haemochromatosis.<\/span><\/a> Patient Educ Couns<\/span><\/i>. 2014; 96 (1), 86-92.<\/span><\/li>\n
  33. Tzou W-S, Chu Y, Lin T-Y, Hu C-H, Pai T-W, Liu H-F, Lin H-J, Cases I, Rojas A, Sanchez M, You Z-Y, Hsu M-W. Molecular Evolution of Multiple-Level Control of Heme Biosynthesis Pathway in Animal Kingdom.<\/span> PLoS ONE<\/span><\/i> 2014 9(1): e86718.<\/span><\/li>\n
  34. Alt\u00e9s A, P\u00e9rez-Lucena MJ, Bruguera M en representaci\u00f3n de la Comisi\u00f3n de Hiperferritinemia del Grupo Ib\u00e9rico de Ferropatolog\u00eda* (Componentes de la Comisi\u00f3n de Hiperferritinemia del Grupo Ib\u00e9rico de Ferropatolog\u00eda, co-autores de este trabajo: Rosario L\u00f3pez R, Ruiz MA, Torres M, Sanchez M, F\u00e9lez J, Beneitez D, Matute MF, Remacha A, Sanz C). Systematic approach to the diagnosis of hyperferritinemia. Medicina Clinica (Barc) 2014 May 6;142(9):412-7. doi: 10.1016\/j.medcli.2013.06.010.\u00a0<\/span><\/li>\n
  35. Ines Rodr\u00edguez Hern\u00e1ndez. 2014. Enfoque diagn\u00f3stico de las anemias. Tema 2. Programa Integral de Formaci\u00f3n Continuada en Atenci\u00f3n Primaria 7 d\u00edas m\u00e9dicos. Ediciones Mayo. 4, pp.1-7.<\/span><\/li>\n
  36. Junc\u00e0, J.; et al. 2014. Correlation of CD11b and CD56 expression in adult acute myeloid leukemia with cytogenetic risk groups and prognosis.Annals of hematology. SpringerLink. 93-9, pp.1483-1492. ISSN 1432-0584.<\/span><\/li>\n
  37. Junc\u00e0, J.; et al. 2014. CD11b expression in acute promyelocytic leukemia.American journal of clinical pathology. Oxford University Press. 141-6, pp.900. ISSN 1943-7722.<\/span><\/li>\n
  38. Motll\u00f3, C.; et al. 2014. Mobilization and engraftment of peripheral blood stem cells in healthy related donors >55 years old.Cytotherapy. Elsevier. 16-3, pp.406-417. ISSN 1477-2566.<\/span><\/li>\n
  39. Junc\u00e0, J.; et al. 2013. Pro-B acute lymphoblastic leukemia in a patient with severe congenital neutropenia: an unusual form of malignant evolution.Leukemia & lymphoma. Taylor & Francis Online. 54-10, pp.2325-2332. ISSN 1029-2403.<\/span><\/li>\n
  40. Vila Bou, J.; et al. 2013. Rhabdomyolysis and drepanocytic trait.Medicina cli\u0301nica. Elsevier. 141-3, pp.136-143. ISSN 0025-7753.<\/span><\/li>\n
  41. Junc\u00e0, J.; et al. 2013. CD11b expression correlates with monosomal karyotype and predicts an extremely poor prognosis in cytogenetically unfavourable acute myeloid leukemia. Leukemia research. Elsevier. 37-8, pp.859-919. ISSN 1873-5835.<\/span><\/li>\n
  42. Ribera, J.; et al. 2013. Usefullness of IGH\/TCR PCR studies in lymphoproliferative disorders with inconclusive clonality by flow cytometry.Cytometry. Part B, Clinical cytometry. Wiley Online Lybrary. ISSN 1552-4957.<\/span><\/li>\n
  43. Athiyarath R, Arora N, Fuster F, Schwarzenbacher R, Ahmed R, George B, Chandy M, Srivastava A, Rojas AM, S\u00e1nchez M, Edison ES. Two Novel Missense Mutations in Iron Transport Protein Transferrin Causing Hypochromic Microcytic Anaemia and Haemosiderosis: molecular characterisation and structural implications<\/span>. Brit J Haematol <\/span><\/i>2013 Nov;163(3):404-407.<\/span><\/li>\n
  44. De Falco L*, S\u00e1nchez M*, Silvestri L, Kannengiesser C, Muckenthaler MU, Iolascon A, Gouya L, Camaschella C, Beaumont C. Iron Refractory Iron Deficiency Anemia.<\/span> Haematologica<\/span><\/i> 2013 Jun;98(6):845-53. doi: 10.3324\/haematol.2012.075515. *equal contributor authors.<\/span><\/li>\n
  45. Luscieti S, Tolle G, Aranda J, Benet-Campos C, Risse F, Mor\u00e1n E, Muckenthaler MU, S\u00e1nchez M. Novel mutations in the Ferritin-L iron-responsive element that only mildly impair IRP binding cause Hereditary Hyperferritinaemia Cataract Syndrome.<\/span> Orphanet Journal of Rare Diseases<\/span><\/i> 2013. Feb 19;8(1):30. IF: 3.958. Q1D1 25\/122 Category: MEDICINE, RESEARCH & EXPERIMENTAL. Cites:3 (Oct 2014 WOS)<\/span><\/li>\n
  46. Junc\u00e0, J.; et al. 2012. Scoring systems in mantle cell lymphoma: a critical point of view.Cytometry. Part B, Clinical cytometry. Wiley Online Lybrary. 82-2, pp.120-122. ISSN 1552-4957.<\/span><\/li>\n
  47. Liu Z, Lanford R, Mueller S, Gerhard GS, Luscieti S, S\u00e1nchez M, Devireddy L. Siderophore-mediated iron trafficking in humans is regulated by iron. <\/span>Journal of Molecular Medicine<\/span><\/i> 2012 Oct;90(10):1209-21.<\/span><\/li>\n
  48. Rodr\u00edguez-Hern\u00e1ndez, I.; et al. 2011. Diffuse large <\/span>B cell lymphoma associated with hemophagocytic syndrome. Medicina cli\u0301nica. Elsevier. 136-2, pp.87-95. ISSN 0025-7753.<\/span><\/li>\n
  49. S\u00e1nchez M, Galy B, Schwanhaeusser B, Blake J, B\u00e4hr-Ivacevic T, Benes V, Selbach M, Muckenthaler MU and Hentze MW. Iron regulatory protein-1 and -2: transcriptome-wide definition of binding mRNAs and shaping of the cellular proteome by IRPs. <\/span>Blood <\/span><\/i>2011 Nov 24;118(22):e168-79.<\/span><\/li>\n
  50. Rodrigues PN, Gomes SS, <\/span>Neves JV, Gomes-Pereira S, Correia-Neves M, Nunes-Alves C, Stolte J, Sanchez M, Appelberg R, Muckenthaler MU, Gomes MS. <\/span>Mycobacteria-induced anaemia revisited: a molecular approach reveals the involvement of NRAMP1 and lipocalin-2, but not of hepcidin. <\/span>Immunobiology<\/span><\/i>. <\/span>2011 Oct;216(10):1127-34. Epub 2011 Apr 20. PubMed PMID: 21601942.<\/span><\/li>\n
  51. Kannengiesser C*, Sanchez M*, Sweeney M*, Hetet G,<\/span> Kerr B, Moran E, Fuster-Soler JL, Maloum K, Matthes T, Oudot C, Lascaux A, Pondarr\u00e9 C, Sevilla-Navarro J,<\/span> Vidyatilake S, Beaumont C, Grandchamp B, May A. Missense SLC25A38 gene variations play an important role in autosomal recessive inherited sideroblastic anaemia.*equal contributor authors. <\/span>Haematologica<\/span><\/i>. 2011 Jun;96 (6):808-13. Epub 2011 Mar 10. PubMed PMID: 21393332. This manuscript led to the Editorial article by Cazzola M. and Invernizzi R. entitled:<\/span> Ring sideroblasts and sideroblastic anemias<\/span><\/a> in <\/span>Haematologica<\/span><\/i>. 2011 Jun:96 (6):789-792.\u00a0<\/span><\/li>\n
  52. Campillos M, Cases I, Hentze MW, S\u00e1nchez M. SIREs: Searching for Iron-Responsive Elements. <\/span>Nucleic Acids Research<\/span><\/i> 2010 Jul 1;38 (Web Server Issue)W360-7. Epub 2010 May 11. PubMed PMID: 20460462.<\/span><\/li>\n
  53. Vainshtein Y, S\u00e1nchez M, Brazma A, Hentze MW, Dandekar T, Muckenthaler MU. The IronCip Evaluation Package: A package of Perl modules for robust analysis of custom microarrays.<\/span> BMC Bioinformatics<\/span><\/i> 2010, 11:112.<\/span><\/li>\n
  54. Ramsay AJ, Quesada V, S\u00e1nchez M, Garabaya C, Sard\u00e0 MP, Baiget M, Remacha A, Velasco G, L\u00f3pez-Ot\u00edn C. Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms<\/span>. Human Molecular Genetics<\/span><\/i>. 2009 Oct 1;18(19):3673-83. Epub 2009 Jul 10. PubMed PMID: 19592582.<\/span><\/li>\n
  55. S\u00e1nchez M, Galy B, Hentze MW., and Muckenthaler MU. Identification of target mRNAs of regulatory RNA binding proteins using mRNP immunopurification and microarrays. <\/span>Nature Protocols<\/span><\/i> 2007, 2(8):2033-2042.<\/span><\/li>\n
  56. Percy MJ<\/span>*<\/span>, S\u00e1nchez M<\/span>*<\/span>, Swierczek S<\/span>*<\/span>, McMullin MF, Mojica-Henshaw MP, Martina U Muckenthaler MU, Prchal JT, and Hentze MW. Is congenital Secondary Erythrocytosis\/Polycythemia caused by activating mutations within the HIF-2 iron responsive element? <\/span>Blood<\/span><\/i> 2007; 110(7):2776-2777. * equal contribution authors. PubMed PMID: 17881647.<\/span><\/li>\n
  57. S\u00e1nchez M, Galy B, Muckenthaler MU, and Hentze MW. Iron-regulatory proteins limit hypoxia-inducible factor 2 expression in iron deficiency. <\/span>Nature Structural & Molecular Biology.<\/span><\/i> 2007 ;14(5):420-426. PubMed PMID: 17417656.<\/span><\/li>\n
  58. S\u00e1nchez M, Galy B, Dandekar T, Bengert P, Vainshtein Y, Stolte J, Muckenthaler MU, and Hentze MW. Iron regulation and the cell cycle: Identification of an Iron-Responsive Element in the 3\u2019 unstranslated region of human CDC14A mRNA by a refined microarray-based screening strategy. <\/span>Journal of Biological Chemistry<\/span><\/i> 2006; 281(32):22865-74. PubMed PMID: 16760464.<\/span><\/li>\n
  59. Roy CN , Custodio AO, de Graaf J, Schneider S, Akpan I, Montross LK, S\u00e1nchez M, Gaudino A, Hentze MW, Andrews NC and Muckenthaler M. An <\/span>Hfe<\/span><\/i>-dependent pathway mediates hyposideremia in response to lipopolysaccharide-induced inflammation in mice. <\/span>Nature Genetics<\/span><\/i> 2004 ;36(5):481-5.<\/span><\/li>\n
  60. Oliva R, Novials A, S\u00e1nchez M, Villa M, Ingelmo M, Recasens M, Ascaso C, Bruguera M, Gomis R. The HFE gene is associated to an earlier age of onset and to the presence of diabetic nephropathy in diabetes mellitus type 2. <\/span>Endocrine <\/span><\/i>2004 ;24(2):111-4.<\/span><\/li>\n
  61. S\u00e1nchez M, Villa M, Ingelmo M, Sanz C, Bruguera M, Ascaso C, Oliva R. Population screening for hemochromatosis: a study in 5370 Spanish blood donors. <\/span>Journal of<\/span><\/i> Hepatology <\/span><\/i>2003; 38(6):745-50. IF : 5.283. Cites: 29 (Oct 2014 WOS) Q1D1<\/span><\/li>\n
  62. S\u00e1nchez M, Bruguera M, Rod\u00e9s J, Oliva R. Complete characterization of the 3\u2019 region of the human and mouse hereditary hemochromatosis HFE gene and dectection of novel splicing forms. <\/span>Blood Cells, Molecules and Diseases<\/span><\/i> 2001; 27 (1): 35-43.<\/span><\/li>\n
  63. S\u00e1nchez M, Bruguera M, Quintero E, Barrio Y, Mazzara R, Rod\u00e9s J, Oliva R. Hereditary Hemochromatosis in Spain. <\/span>Genetic Testing<\/span><\/i> 2000; 4 (2):171-6.<\/span><\/li>\n
  64. S\u00e1nchez M, Bruguera M, Bosch J, Rod\u00e9s J, Ballesta F and Oliva R. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls. <\/span>Journal of Hepatology<\/span><\/i> 1998; 29: 725-728.<\/span><\/li>\n
  65. S\u00e1nchez M, Queralt R, Bruguera M, Bosch J, Rod\u00e9s J, and Oliva R . Cloning, sequencing and characterization of the rat HFE promoter. Comparison of the human, mouse and rat hemochromatosis HFE promoter regions. <\/span>Gene<\/span><\/i> 1998; 225: 77-87.<\/span><\/li>\n
  66. Margarit E, Guillem A, Rebordosa C, Vidal-Taboada JM, S\u00e1nchez M, and Oliva R. Identification of conserved potentially regulatory sequences of the SRY gene from different species of mammals. <\/span>Biochemical and Biophysical Research Communication<\/span><\/i> 1998; 245: 370-377.<\/span><\/li>\n
  67. Vidal-Taboada JM, Bergo\u00f1\u00f3n S, S\u00e1nchez M, L\u00f3pez-Acebo C, Groet J, Nizetic D, Egeo A, Scartezzini P, Katsanis N, Fisher EMC, Delabar JM and Oliva R. High resolution mapping and identification of transcribed sequences in the Down Syndrome region-2. <\/span>Biochemical and Biophysical Research Communication<\/span><\/i> 1998; 243: 572-578.<\/span><\/li>\n<\/ol>\n","protected":false},"excerpt":{"rendered":"

    Publications in Scientific Journals Hern\u00e1ndez G, Romero-Cortadellas L, Ferrer-Cort\u00e8s X, Venturi V, Dessy-Rodriguez M, Olivella M, Husami A, De Soto CP, Morales-Camacho RM, Villegas A, Gonz\u00e1lez-Fern\u00e1ndez FA, Morado M, Kalfa TA, Quintana-Bustamante O, P\u00e9rez-Montero S, Tornador C, Segovia JC, S\u00e1nchez M. Mutations in the\u00a0RACGAP1\u00a0gene cause autosomal recessive congenital dyserythropoietic anemia type III. Haematologica. 2023 Feb…<\/p>\n","protected":false},"author":7,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_oct_exclude_from_cache":false,"om_disable_all_campaigns":false,"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"_uf_show_specific_survey":0,"_uf_disable_surveys":false,"footnotes":""},"class_list":["post-2727","page","type-page","status-publish","hentry","description-off"],"jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/2727","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/comments?post=2727"}],"version-history":[{"count":19,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/2727\/revisions"}],"predecessor-version":[{"id":2886,"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/pages\/2727\/revisions\/2886"}],"wp:attachment":[{"href":"https:\/\/bloodgenetics.com\/wp-json\/wp\/v2\/media?parent=2727"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}