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Page 1
New Mutations in HFE2 and TFR2 Genes Causing Non HFE-Related Hereditary Hemochromatosis.
Hernández G, Ferrer-Cortès X, Venturi V, Musri M, Pilquil MF, Torres PMM, Rodríguez IH, Mínguez MÀR, Kelleher NJ, Pelucchi S, Piperno A, Alberca EP, Ricós GG, Giró EC, Pérez-Montero S, Tornador C, Villà-Freixa J, Sánchez M. Hernández G, et al. Among authors: perez montero s. Genes (Basel). 2021 Dec 13;12(12):1980. doi: 10.3390/genes12121980. Genes (Basel). 2021. PMID: 34946929 Free PMC article.
Hereditary Hyperferritinemia Cataract Syndrome: Ferritin L Gene and Physiopathology behind the Disease-Report of New Cases.
Celma Nos F, Hernández G, Ferrer-Cortès X, Hernandez-Rodriguez I, Navarro-Almenzar B, Fuster JL, Bermúdez Cortés M, Pérez-Montero S, Tornador C, Sanchez M. Celma Nos F, et al. Among authors: perez montero s. Int J Mol Sci. 2021 May 21;22(11):5451. doi: 10.3390/ijms22115451. Int J Mol Sci. 2021. PMID: 34064225 Free PMC article.
New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation.
Romero-Cortadellas L, Hernández G, Ferrer-Cortès X, Zalba-Jadraque L, Fuster JL, Bermúdez-Cortés M, Galera-Miñarro AM, Pérez-Montero S, Tornador C, Sánchez M. Romero-Cortadellas L, et al. Among authors: perez montero s. Int J Mol Sci. 2022 Apr 15;23(8):4406. doi: 10.3390/ijms23084406. Int J Mol Sci. 2022. PMID: 35457224 Free PMC article.
Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III.
Hernández G, Romero-Cortadellas L, Ferrer-Cortès X, Venturi V, Dessy-Rodriguez M, Olivella M, Husami A, De Soto CP, Morales-Camacho RM, Villegas A, González-Fernández FA, Morado M, Kalfa TA, Quintana-Bustamante O, Pérez-Montero S, Tornador C, Segovia JC, Sánchez M. Hernández G, et al. Among authors: perez montero s. Haematologica. 2023 Feb 1;108(2):581-587. doi: 10.3324/haematol.2022.281277. Haematologica. 2023. PMID: 36200420 Free PMC article. No abstract available.
New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.
Musri MM, Venturi V, Ferrer-Cortès X, Romero-Cortadellas L, Hernández G, Leoz P, Ricard Andrés MP, Morado M, Fernández Valle MDC, Beneitez Pastor D, Ortuño Cabrero A, Moreno Gamiz M, Senent Peris L, Perez-Valencia AI, Pérez-Montero S, Tornador C, Sánchez M. Musri MM, et al. Among authors: perez montero s. Int J Mol Sci. 2023 Jun 9;24(12):9935. doi: 10.3390/ijms24129935. Int J Mol Sci. 2023. PMID: 37373084 Free PMC article.
Mutation of p53 increases the competitive ability of pluripotent stem cells.
Perez Montero S, Paul PK, di Gregorio A, Bowling S, Shepherd S, Fernandes NJ, Lima A, Pérez-Carrasco R, Rodriguez TA. Perez Montero S, et al. Development. 2024 Jan 15;151(2):dev202503. doi: 10.1242/dev.202503. Epub 2024 Jan 19. Development. 2024. PMID: 38131530 Free PMC article.
DRP1 levels determine the apoptotic threshold during embryonic differentiation through a mitophagy-dependent mechanism.
Pernaute B, Pérez-Montero S, Sánchez Nieto JM, Di Gregorio A, Lima A, Lawlor K, Bowling S, Liccardi G, Tomás A, Meier P, Sesaki H, Rutter GA, Barbaric I, Rodríguez TA. Pernaute B, et al. Among authors: perez montero s. Dev Cell. 2022 Jun 6;57(11):1316-1330.e7. doi: 10.1016/j.devcel.2022.04.020. Epub 2022 May 20. Dev Cell. 2022. PMID: 35597240 Free PMC article.
Cell competition acts as a purifying selection to eliminate cells with mitochondrial defects during early mouse development.
Lima A, Lubatti G, Burgstaller J, Hu D, Green AP, Di Gregorio A, Zawadzki T, Pernaute B, Mahammadov E, Perez-Montero S, Dore M, Sanchez JM, Bowling S, Sancho M, Kolbe T, Karimi MM, Carling D, Jones N, Srinivas S, Scialdone A, Rodriguez TA. Lima A, et al. Among authors: perez montero s. Nat Metab. 2021 Aug;3(8):1091-1108. doi: 10.1038/s42255-021-00422-7. Epub 2021 Jul 12. Nat Metab. 2021. PMID: 34253906 Free PMC article.
15 results