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Molecular and clinical characterisation of three Spanish families with maternally inherited non-syndromic hearing loss caused by the 1494C->T mutation in the mitochondrial 12S rRNA gene.
Rodríguez-Ballesteros M, Olarte M, Aguirre LA, Galán F, Galán R, Vallejo LA, Navas C, Villamar M, Moreno-Pelayo MA, Moreno F, del Castillo I. Rodríguez-Ballesteros M, et al. Among authors: aguirre la. J Med Genet. 2006 Nov;43(11):e54. doi: 10.1136/jmg.2006.042440. J Med Genet. 2006. PMID: 17085680 Free PMC article.
A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
del Castillo FJ, Rodríguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martín Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I. del Castillo FJ, et al. Among authors: aguirre la. J Med Genet. 2005 Jul;42(7):588-94. doi: 10.1136/jmg.2004.028324. J Med Genet. 2005. PMID: 15994881 Free PMC article. No abstract available.
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss.
Huebner AK, Gandia M, Frommolt P, Maak A, Wicklein EM, Thiele H, Altmüller J, Wagner F, Viñuela A, Aguirre LA, Moreno F, Maier H, Rau I, Giesselmann S, Nürnberg G, Gal A, Nürnberg P, Hübner CA, del Castillo I, Kurth I. Huebner AK, et al. Among authors: aguirre la. Am J Hum Genet. 2011 May 13;88(5):621-7. doi: 10.1016/j.ajhg.2011.04.007. Epub 2011 May 5. Am J Hum Genet. 2011. PMID: 21549336 Free PMC article.
Soluble PD-L1: a potential immune marker for HIV-1 infection and virological failure.
Avendaño-Ortiz J, Rubio-Garrido M, Lozano-Rodríguez R, Del Romero J, Rodríguez C, Moreno S, Aguirre LA, Holguín Á, López-Collazo E. Avendaño-Ortiz J, et al. Among authors: aguirre la. Medicine (Baltimore). 2020 May;99(20):e20065. doi: 10.1097/MD.0000000000020065. Medicine (Baltimore). 2020. PMID: 32443313 Free PMC article.
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
Oxygen Saturation on Admission Is a Predictive Biomarker for PD-L1 Expression on Circulating Monocytes and Impaired Immune Response in Patients With Sepsis.
Avendaño-Ortiz J, Maroun-Eid C, Martín-Quirós A, Lozano-Rodríguez R, Llanos-González E, Toledano V, Gómez-Campelo P, Montalbán-Hernández K, Carballo-Cardona C, Aguirre LA, López-Collazo E. Avendaño-Ortiz J, et al. Among authors: aguirre la. Front Immunol. 2018 Sep 4;9:2008. doi: 10.3389/fimmu.2018.02008. eCollection 2018. Front Immunol. 2018. PMID: 30233593 Free PMC article.
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