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Molecular analysis of 19 Spanish patients with mixed porphyrias.
Borrero Corte MJ, Jara Rubio F, Morán Jiménez MJ, Díaz Díaz S, Castelbón Fernandez FJ, García Pastor I, Enríquez de Salamanca R, Méndez M. Borrero Corte MJ, et al. Among authors: mendez m. Eur J Med Genet. 2019 Dec;62(12):103589. doi: 10.1016/j.ejmg.2018.11.023. Epub 2018 Nov 23. Eur J Med Genet. 2019. PMID: 30476629
Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.
Morán-Jiménez MJ, Borrero-Corte MJ, Jara-Rubio F, García-Pastor I, Díaz-Díaz S, Castelbón-Fernandez FJ, Enríquez-de-Salamanca R, Méndez M. Morán-Jiménez MJ, et al. Among authors: mendez m. Genes (Basel). 2020 Aug 12;11(8):924. doi: 10.3390/genes11080924. Genes (Basel). 2020. PMID: 32806544 Free PMC article.
Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation.
Gómez-Abecia S, Morán-Jiménez MJ, Ruiz-Casares E, Henriques-Gil N, García-Pastor I, Garrido-Astray MC, Enríquez de Salamanca R, Méndez M. Gómez-Abecia S, et al. Among authors: mendez m. Gene. 2013 Jun 10;522(1):89-95. doi: 10.1016/j.gene.2013.03.074. Epub 2013 Mar 29. Gene. 2013. PMID: 23545314
Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.
Méndez M, Moreno-Carralero MI, Peri VL, Camacho-Galán R, Bosch-Benítez JM, Huerta-Aragonés J, Sánchez-Calero-Guilarte J, Moreno-Risco MB, Alonso-Domínguez JM, Morán-Jiménez MJ. Méndez M, et al. Ann Hematol. 2021 Feb;100(2):353-364. doi: 10.1007/s00277-020-04319-5. Epub 2020 Nov 7. Ann Hematol. 2021. PMID: 33159567
A novel mutation in the SLC40A1 gene associated with reduced iron export in vitro.
Moreno-Carralero MI, Muñoz-Muñoz JA, Cuadrado-Grande N, López-Rodríguez R, José Hernández-Alfaro M, del-Castillo-Rueda A, Enríquez-de-Salamanca R, Méndez M, Morán-Jiménez MJ. Moreno-Carralero MI, et al. Among authors: mendez m. Am J Hematol. 2014 Jul;89(7):689-94. doi: 10.1002/ajh.23714. Epub 2014 Apr 10. Am J Hematol. 2014. PMID: 24644245 Free article.
1,805 results