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Page 1
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: moran jimenez mj. 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. Genes (Basel). 2020 Aug 12;11(8):924. doi: 10.3390/genes11080924. Genes (Basel). 2020. PMID: 32806544 Free PMC article.
Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.
Méndez M, Poblete-Gutiérrez P, García-Bravo M, Wiederholt T, Morán-Jiménez MJ, Merk HF, Garrido-Astray MC, Frank J, Fontanellas A, Enríquez de Salamanca R. Méndez M, et al. Among authors: moran jimenez mj. Br J Dermatol. 2007 Sep;157(3):501-7. doi: 10.1111/j.1365-2133.2007.08064.x. Epub 2007 Jul 11. Br J Dermatol. 2007. PMID: 17627795
Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.
Méndez M, Moreno-Carralero MI, Morado-Arias M, Fernández-Jiménez MC, de la Iglesia Iñigo S, Morán-Jiménez MJ. Méndez M, et al. Among authors: moran jimenez mj. Mol Genet Genomic Med. 2016 Jan 13;4(3):273-82. doi: 10.1002/mgg3.202. eCollection 2016 May. Mol Genet Genomic Med. 2016. PMID: 27247955 Free PMC article.
Precipitating/aggravating factors of porphyria cutanea tarda in Spanish patients.
Cruz-Rojo J, Fontanellas A, Morán-Jiménez MJ, Navarro-Ordóñez S, García-Bravo M, Méndez M, Muñoz-Rivero MC, de Salamanca RE. Cruz-Rojo J, et al. Among authors: moran jimenez mj. Cell Mol Biol (Noisy-le-grand). 2002 Dec;48(8):845-52. Cell Mol Biol (Noisy-le-grand). 2002. PMID: 12699242
Missense variants in ALAS2 gene in five patients.
Moreno-Carralero MI, Arrizabalaga-Amuchastegui B, Sánchez-Calero-Guilarte J, Morado-Arias M, Velasco-Valdazo AE, de-la-Iglesia-Iñigo S, Méndez M, Morán-Jiménez MJ. Moreno-Carralero MI, et al. Among authors: moran jimenez mj. Int J Lab Hematol. 2019 Feb;41(1):e5-e9. doi: 10.1111/ijlh.12902. Epub 2018 Jul 17. Int J Lab Hematol. 2019. PMID: 30019527 No abstract available.
Clinical and genetic features of congenital dyserythropoietic anemia (CDA).
Moreno-Carralero MI, Horta-Herrera S, Morado-Arias M, Ricard-Andrés MP, Lemes-Castellano A, Abio-Calvete M, Cedena-Romero MT, González-Fernández FA, Llorente-González L, Periago-Peralta AM, de-la-Iglesia-Íñigo S, Méndez M, Morán-Jiménez MJ. Moreno-Carralero MI, et al. Among authors: moran jimenez mj. Eur J Haematol. 2018 Sep;101(3):368-378. doi: 10.1111/ejh.13112. Epub 2018 Jul 27. Eur J Haematol. 2018. PMID: 29901818
A case of congenital dyserythropoietic anemia type IV.
de-la-Iglesia-Iñigo S, Moreno-Carralero MI, Lemes-Castellano A, Molero-Labarta T, Méndez M, Morán-Jiménez MJ. de-la-Iglesia-Iñigo S, et al. Among authors: moran jimenez mj. Clin Case Rep. 2017 Jan 28;5(3):248-252. doi: 10.1002/ccr3.825. eCollection 2017 Mar. Clin Case Rep. 2017. PMID: 28265383 Free PMC article.
43 results