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Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.
Boluda-Navarro M, Ibáñez M, Liquori A, Franco-Jarava C, Martínez-Gallo M, Rodríguez-Vega H, Teresa J, Carreras C, Such E, Zúñiga Á, Colobran R, Cervera JV. Boluda-Navarro M, et al. Front Immunol. 2021 Mar 31;12:625591. doi: 10.3389/fimmu.2021.625591. eCollection 2021. Front Immunol. 2021. PMID: 33868243 Free PMC article.
Analysis of SNP Array Abnormalities in Patients with DE NOVO Acute Myeloid Leukemia with Normal Karyotype.
Ibáñez M, Such E, Onecha E, Gómez-Seguí I, Liquori A, Sellés J, Hervás-Marín D, Barragán E, Ayala R, LLop M, López-Pavía M, Rapado I, Neef A, Sanjuan-Pla A, Sargas C, Gonzalez-Romero E, Boluda-Navarro M, Andreu R, Senent L, Montesinos P, Martínez-López J, Angel Sanz M, Sanz G, Cervera J. Ibáñez M, et al. Among authors: boluda navarro m. Sci Rep. 2020 Apr 3;10(1):5904. doi: 10.1038/s41598-020-61589-9. Sci Rep. 2020. PMID: 32246042 Free PMC article.
A Single-Run Next-Generation Sequencing (NGS) Assay for the Simultaneous Detection of Both Gene Mutations and Large Chromosomal Abnormalities in Patients with Myelodysplastic Syndromes (MDS) and Related Myeloid Neoplasms.
Liquori A, Lesende I, Palomo L, Avetisyan G, Ibáñez M, González-Romero E, Boluda-Navarro M, Morote-Faubel M, Garcia-Ruiz C, Martinez-Valiente C, Santiago-Balsera M, Gomez-Seguí I, Sanjuan-Pla A, Sanz MA, Sanz G, Solé F, Such E, Cervera J. Liquori A, et al. Among authors: boluda navarro m. Cancers (Basel). 2021 Apr 18;13(8):1947. doi: 10.3390/cancers13081947. Cancers (Basel). 2021. PMID: 33919541 Free PMC article.
Potentially toxic element bioaccumulation in consumed indoor shrimp farming associated with diet, water and sediment levels.
Ramos-Miras JJ, Sanchez-Muros MJ, Renteria P, de Carrasco CG, Roca-Perez L, Boluda-Navarro M, Pro J, Martín JAR. Ramos-Miras JJ, et al. Among authors: boluda navarro m. Environ Sci Pollut Res Int. 2023 Dec;30(58):121794-121806. doi: 10.1007/s11356-023-30939-1. Epub 2023 Nov 14. Environ Sci Pollut Res Int. 2023. PMID: 37962756 Free PMC article.