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Page 1
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M, Pujol R, Aza-Carmona M, Muñoz-Subirana N, Rodriguez-Santiago B, Casado JA, Rio P, Bauser C, Reina-Castillón J, Lopez-Sanchez M, Gonzalez-Quereda L, Gallano P, Catalá A, Ruiz-Llobet A, Badell I, Diaz-Heredia C, Hladun R, Senent L, Argiles B, Bergua Burgues JM, Bañez F, Arrizabalaga B, López Almaraz R, Lopez M, Figuera Á, Molinés A, Pérez de Soto I, Hernando I, Muñoz JA, Del Rosario Marin M, Balmaña J, Stjepanovic N, Carrasco E, Cuesta I, Cosuelo JM, Regueiro A, Moraleda Jimenez J, Galera-Miñarro AM, Rosiñol L, Carrió A, Beléndez-Bieler C, Escudero Soto A, Cela E, de la Mata G, Fernández-Delgado R, Garcia-Pardos MC, Sáez-Villaverde R, Barragaño M, Portugal R, Lendinez F, Hernadez I, Vagace JM, Tapia M, Nieto J, Garcia M, Gonzalez M, Vicho C, Galvez E, Valiente A, Antelo ML, Ancliff P, Garcia F, Dopazo J, Sevilla J, Paprotka T, Pérez-Jurado LA, Bueren J, Surralles J. Bogliolo M, et al. Among authors: galera minarro am. J Med Genet. 2020 Apr;57(4):258-268. doi: 10.1136/jmedgenet-2019-106249. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586946
Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.
Arias-Salgado EG, Galvez E, Planas-Cerezales L, Pintado-Berninches L, Vallespin E, Martinez P, Carrillo J, Iarriccio L, Ruiz-Llobet A, Catalá A, Badell-Serra I, Gonzalez-Granado LI, Martín-Nalda A, Martínez-Gallo M, Galera-Miñarro A, Rodríguez-Vigil C, Bastos-Oreiro M, Perez de Nanclares G, Leiro-Fernández V, Uria ML, Diaz-Heredia C, Valenzuela C, Martín S, López-Muñiz B, Lapunzina P, Sevilla J, Molina-Molina M, Perona R, Sastre L. Arias-Salgado EG, et al. Orphanet J Rare Dis. 2019 Apr 17;14(1):82. doi: 10.1186/s13023-019-1046-0. Orphanet J Rare Dis. 2019. PMID: 30995915 Free PMC article.
[GATA1 analysis in myeloproliferative disorders associated to trisomy 21].
Fuster Soler JL, Norton A, Galera Miñarro A, Bermúdez Cortés M, Llinares Riestra ME, Ortuño Giner F. Fuster Soler JL, et al. An Pediatr (Barc). 2011 Jan;74(1):31-7. doi: 10.1016/j.anpedi.2010.08.012. Epub 2010 Sep 25. An Pediatr (Barc). 2011. PMID: 20870473 Free article. Spanish.
[Nephrotic syndrome and Hodgkins disease, a rare association].
Espín López J, Galera Miñarro A, Bermúdez Cortés M, Llinares Riestra E, Fuster Soler J. Espín López J, et al. An Pediatr (Barc). 2005 Jul;63(1):77. doi: 10.1157/13076772. An Pediatr (Barc). 2005. PMID: 15989876 Free article. Spanish. No abstract available.
[Efficacy of the Paediatrics Palliative Care Team of Murcia according to the experience of the parents].
Plaza Fornieles M, García-Marcos Barbero P, Galera Miñarro AM, Barbieri G, Bellavia N, Bermúdez Cortés MDM, Navarro Mingorance Á. Plaza Fornieles M, et al. Among authors: galera minarro am. An Pediatr (Engl Ed). 2020 Jul;93(1):4-15. doi: 10.1016/j.anpedi.2019.07.001. Epub 2019 Aug 16. An Pediatr (Engl Ed). 2020. PMID: 31427213 Free article. Spanish.
Neuroblastoma: validation of the INRG classification system in a small series.
Ramos Elbal E, Galera Miñarro AM, Llinares Riestra ME, Bermúdez Cortés M, Fuster Soler JL. Ramos Elbal E, et al. Among authors: galera minarro am. Clin Transl Oncol. 2019 Dec;21(12):1776-1780. doi: 10.1007/s12094-019-02099-7. Epub 2019 Apr 4. Clin Transl Oncol. 2019. PMID: 30949929
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: galera minarro am. Int J Mol Sci. 2022 Apr 15;23(8):4406. doi: 10.3390/ijms23084406. Int J Mol Sci. 2022. PMID: 35457224 Free PMC article.