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Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Sanchez-Jimeno C, et al. Among authors: almoguera b. Genes (Basel). 2021 Aug 30;12(9):1360. doi: 10.3390/genes12091360. Genes (Basel). 2021. PMID: 34573342 Free PMC article. Review.
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.
CYP2D6 poor metabolizer status might be associated with better response to risperidone treatment.
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. Pharmacogenet Genomics. 2013 Nov;23(11):627-30. doi: 10.1097/FPC.0b013e3283659a94. Pharmacogenet Genomics. 2013. PMID: 24026091
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.
73 results