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Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene.
Goicoechea De Jorge E, Lorda I, Gallardo ME, Pérez B, Peréz De Ferrán C, Mendoza H, Rodríguez De Córdoba S. Goicoechea De Jorge E, et al. Among authors: rodriguez de cordoba s. J Med Genet. 2002 Jul;39(7):E40. doi: 10.1136/jmg.39.7.e40. J Med Genet. 2002. PMID: 12114497 Free PMC article. No abstract available.
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.
Gallardo ME, Lopez-Rios J, Fernaud-Espinosa I, Granadino B, Sanz R, Ramos C, Ayuso C, Seller MJ, Brunner HG, Bovolenta P, Rodríguez de Córdoba S. Gallardo ME, et al. Among authors: rodriguez de cordoba s. Genomics. 1999 Oct 1;61(1):82-91. doi: 10.1006/geno.1999.5916. Genomics. 1999. PMID: 10512683
Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.
Desviat LR, Pérez-Cerdá C, Pérez B, Esparza-Gordillo J, Rodríguez-Pombo P, Peñalva MA, Rodríguez De Córdoba S, Ugarte M. Desviat LR, et al. Among authors: rodriguez pombo p, rodriguez de cordoba s. Mol Genet Metab. 2003 Nov;80(3):315-20. doi: 10.1016/S1096-7192(03)00130-6. Mol Genet Metab. 2003. PMID: 14680978
Common and rare genetic variants of complement components in human disease.
Goicoechea de Jorge E, López Lera A, Bayarri-Olmos R, Yebenes H, Lopez-Trascasa M, Rodríguez de Córdoba S. Goicoechea de Jorge E, et al. Among authors: rodriguez de cordoba s. Mol Immunol. 2018 Oct;102:42-57. doi: 10.1016/j.molimm.2018.06.011. Epub 2018 Jun 18. Mol Immunol. 2018. PMID: 29914697 Free article. Review.
194 results