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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: sanchez m. Genes (Basel). 2021 Dec 13;12(12):1980. doi: 10.3390/genes12121980. Genes (Basel). 2021. PMID: 34946929 Free PMC article.
Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype.
Adams P, Altes 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, Sanchez M, Santos P, Swinkels D, Teixeira E, Toska K, Vanclooster A, White D; Contributors and Hemochromatosis International Taskforce. Adams P, et al. Among authors: sanchez m. Hepatol Int. 2018 Mar;12(2):83-86. doi: 10.1007/s12072-018-9855-0. Epub 2018 Mar 27. Hepatol Int. 2018. PMID: 29589198 Free PMC article.
A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria.
Ducamp S, Luscieti S, Ferrer-Cortès X, Nicolas G, Manceau H, Peoc'h K, Yien YY, Kannengiesser C, Gouya L, Puy H, Sanchez M. Ducamp S, et al. Among authors: sanchez m. Haematologica. 2021 Jul 1;106(7):2030-2033. doi: 10.3324/haematol.2020.272450. Haematologica. 2021. PMID: 33596641 Free PMC article. No abstract available.
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: sanchez m. 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: sanchez m. 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: sanchez m. Int J Mol Sci. 2023 Jun 9;24(12):9935. doi: 10.3390/ijms24129935. Int J Mol Sci. 2023. PMID: 37373084 Free PMC article.
5,734 results