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Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families.
Romero PT, Donoso R, López P, Miranda A, Rodríguez L, Chrzanowsky D, Asenjo MS, Burgos G, Villegas P, Desir J, Moya G, Herrera LM. Romero PT, et al. Among authors: moya g. Ophthalmic Genet. 2019 Apr;40(2):91-98. doi: 10.1080/13816810.2019.1571615. Epub 2019 Mar 11. Ophthalmic Genet. 2019. PMID: 30856043
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Redin C, Brand H, Collins RL, Kammin T, Mitchell E, Hodge JC, Hanscom C, Pillalamarri V, Seabra CM, Abbott MA, Abdul-Rahman OA, Aberg E, Adley R, Alcaraz-Estrada SL, Alkuraya FS, An Y, Anderson MA, Antolik C, Anyane-Yeboa K, Atkin JF, Bartell T, Bernstein JA, Beyer E, Blumenthal I, Bongers EM, Brilstra EH, Brown CW, Brüggenwirth HT, Callewaert B, Chiang C, Corning K, Cox H, Cuppen E, Currall BB, Cushing T, David D, Deardorff MA, Dheedene A, D'Hooghe M, de Vries BB, Earl DL, Ferguson HL, Fisher H, FitzPatrick DR, Gerrol P, Giachino D, Glessner JT, Gliem T, Grady M, Graham BH, Griffis C, Gripp KW, Gropman AL, Hanson-Kahn A, Harris DJ, Hayden MA, Hill R, Hochstenbach R, Hoffman JD, Hopkin RJ, Hubshman MW, Innes AM, Irons M, Irving M, Jacobsen JC, Janssens S, Jewett T, Johnson JP, Jongmans MC, Kahler SG, Koolen DA, Korzelius J, Kroisel PM, Lacassie Y, Lawless W, Lemyre E, Leppig K, Levin AV, Li H, Li H, Liao EC, Lim C, Lose EJ, Lucente D, Macera MJ, Manavalan P, Mandrile G, Marcelis CL, Margolin L, Mason T, Masser-Frye D, McClellan MW, Mendoza CJ, Menten B, Middelkamp S, Mikami LR, Moe E, Mohammed S, Mononen T, Mortenson ME, Moya G, Nieuwint AW, Ordulu Z, Parkash S, Pauker SP, … See abstract for full author list ➔ Redin C, et al. Among authors: moya g. Nat Genet. 2017 Jan;49(1):36-45. doi: 10.1038/ng.3720. Epub 2016 Nov 14. Nat Genet. 2017. PMID: 27841880 Free PMC article.
High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme.
Apellániz-Ruiz M, Inglada-Pérez L, Naranjo ME, Sánchez L, Mancikova V, Currás-Freixes M, de Cubas AA, Comino-Méndez I, Triki S, Rebai A, Rasool M, Moya G, Grazina M, Opocher G, Cascón A, Taboada-Echalar P, Ingelman-Sundberg M, Carracedo A, Robledo M, Llerena A, Rodríguez-Antona C. Apellániz-Ruiz M, et al. Among authors: moya g. Pharmacogenomics J. 2015 Jun;15(3):288-92. doi: 10.1038/tpj.2014.67. Epub 2014 Nov 4. Pharmacogenomics J. 2015. PMID: 25348618
[Cadasil: a case with molecular diagnosis].
Zurrú MC, Casas Parera I, Moya G, Giovanelli C, Genovese O, Gatto E. Zurrú MC, et al. Among authors: moya g. Medicina (B Aires). 2002;62(1):48-52. Medicina (B Aires). 2002. PMID: 11965850 Spanish.
Interethnic Variability in CYP2D6, CYP2C9, and CYP2C19 Genes and Predicted Drug Metabolism Phenotypes Among 6060 Ibero- and Native Americans: RIBEF-CEIBA Consortium Report on Population Pharmacogenomics.
Naranjo MG, Rodrigues-Soares F, Peñas-Lledó EM, Tarazona-Santos E, Fariñas H, Rodeiro I, Terán E, Grazina M, Moya GE, López-López M, Sarmiento AP, Calzadilla LR, Ramírez-Roa R, Ortiz-López R, Estévez-Carrizo FE, Sosa-Macías M, Barrantes R, LLerena A; CEIBA-Consortium of the Ibero-American Network of Pharmacogenetics and Pharmacogenomics RIBEF. Naranjo MG, et al. Among authors: moya ge. OMICS. 2018 Sep;22(9):575-588. doi: 10.1089/omi.2018.0114. Epub 2018 Sep 11. OMICS. 2018. PMID: 30183544
Genomic Ancestry, CYP2D6, CYP2C9, and CYP2C19 Among Latin Americans.
Rodrigues-Soares F, Peñas-Lledó EM, Tarazona-Santos E, Sosa-Macías M, Terán E, López-López M, Rodeiro I, Moya GE, Calzadilla LR, Ramírez-Roa R, Grazina M, Estévez-Carrizo FE, Barrantes R, LLerena A; RIBEF Ibero-American Network of Pharmacogenetics and Pharmacogenomics. Rodrigues-Soares F, et al. Clin Pharmacol Ther. 2020 Jan;107(1):257-268. doi: 10.1002/cpt.1598. Epub 2019 Oct 7. Clin Pharmacol Ther. 2020. PMID: 31376146
115 results