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Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19.
López-Rodríguez R, Del Pozo-Valero M, Corton M, Minguez P, Ruiz-Hornillos J, Pérez-Tomás ME, Barreda-Sánchez M, Mancebo E, Villaverde C, Núñez-Moreno G, Romero R; STOP_Coronavirus Study Group; Paz-Artal E, Guillén-Navarro E, Almoguera B, Ayuso C. López-Rodríguez R, et al. Among authors: almoguera b. Sci Rep. 2022 Jun 20;12(1):10369. doi: 10.1038/s41598-022-14035-x. Sci Rep. 2022. PMID: 35725860 Free PMC article.
Harmonizing Clinical Sequencing and Interpretation for the eMERGE III Network.
eMERGE Consortium. Electronic address: agibbs@bcm.edu; eMERGE Consortium. eMERGE Consortium. Electronic address: agibbs@bcm.edu, et al. Am J Hum Genet. 2019 Sep 5;105(3):588-605. doi: 10.1016/j.ajhg.2019.07.018. Epub 2019 Aug 22. Am J Hum Genet. 2019. PMID: 31447099 Free PMC article.
Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies.
Garcia-Hoyos M, Auz-Alexandre CL, Almoguera B, Cantalapiedra D, Riveiro-Alvarez R, Lopez-Martinez MA, Gimenez A, Blanco-Kelly F, Avila-Fernandez A, Trujillo-Tiebas MJ, Garcia-Sandoval B, Ramos C, Ayuso C. Garcia-Hoyos M, et al. Among authors: almoguera b. Mol Vis. 2011 Apr 29;17:1103-9. Mol Vis. 2011. PMID: 21552474 Free PMC article.
ATA homozigosity in the IL-10 gene promoter is a risk factor for schizophrenia in Spanish females: a case control study.
Almoguera B, Riveiro-Alvarez R, Lopez-Castroman J, Dorado P, Lopez-Rodriguez R, Fernandez-Navarro P, Baca-García E, Fernandez-Piqueras J, Dal-Ré R, Abad-Santos F, Llerena A, Ayuso C; Spanish Consortium of Pharmacogenetics Research in Schizophrenia. Almoguera B, et al. BMC Med Genet. 2011 Jun 9;12:81. doi: 10.1186/1471-2350-12-81. BMC Med Genet. 2011. PMID: 21658228 Free PMC article.
Association of common genetic variants with risperidone adverse events in a Spanish schizophrenic population.
Almoguera B, Riveiro-Alvarez R, Lopez-Castroman J, Dorado P, Vaquero-Lorenzo C, Fernandez-Piqueras J, Llerena A, Abad-Santos F, Baca-García E, Dal-Ré R, Ayuso C; Spanish Consortium of Pharmacogenetics Research in Schizophrenia. Almoguera B, et al. Pharmacogenomics J. 2013 Apr;13(2):197-204. doi: 10.1038/tpj.2011.57. Epub 2012 Jan 3. Pharmacogenomics J. 2013. PMID: 22212732 Free PMC article.
Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FPM, Carracedo A, Ayuso C. Corton M, et al. Among authors: almoguera b. Ophthalmology. 2014 Jan;121(1):399-407. doi: 10.1016/j.ophtha.2013.08.028. Epub 2013 Oct 18. Ophthalmology. 2014. PMID: 24144451
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C. Almoguera B, et al. Orphanet J Rare Dis. 2014 Dec 10;9:190. doi: 10.1186/s13023-014-0190-9. Orphanet J Rare Dis. 2014. PMID: 25491489 Free PMC article.
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.
Almoguera B, Li J, Fernandez-San Jose P, Liu Y, March M, Pellegrino R, Golhar R, Corton M, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Guo Y, Tian L, Liu X, Guan L, Zhang J, Keating B, Xu X, Hakonarson H, Ayuso C. Almoguera B, et al. PLoS One. 2015 Jul 21;10(7):e0133624. doi: 10.1371/journal.pone.0133624. eCollection 2015. PLoS One. 2015. PMID: 26197217 Free PMC article.
Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement.
Martin-Merida I, Sanchez-Alcudia R, Fernandez-San Jose P, Blanco-Kelly F, Perez-Carro R, Rodriguez-Jacy da Silva L, Almoguera B, Garcia-Sandoval B, Lopez-Molina MI, Avila-Fernandez A, Carballo M, Corton M, Ayuso C. Martin-Merida I, et al. Among authors: almoguera b. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):1045-1053. doi: 10.1167/iovs.16-20515. Invest Ophthalmol Vis Sci. 2017. PMID: 28192796
73 results