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Professor Graciela Moya

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    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Romero PT, Donoso R, López P, Miranda A, Rodríguez L, Chrzanowsky D, Asenjo MS, Burgos G, Villegas P, Desir J, Moya G, Herrera LM. 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. Ophthalmic Genet. 2019 04; 40(2):91-98. PMID: 30856043.
      View in: PubMed
    2. 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, Pereira S, Perrin D, Phelan K, Aguilar RE, Poddighe PJ, Pregno G, Raskin S, Reis L, Rhead W, Rita D, Renkens I, Roelens F, Ruliera J, Rump P, Schilit SL, Shaheen R, Sparkes R, Spiegel E, Stevens B, Stone MR, Tagoe J, Thakuria JV, van Bon BW, van de Kamp J, van Der Burgt I, van Essen T, van Ravenswaaij-Arts CM, van Roosmalen MJ, Vergult S, Volker-Touw CM, Warburton DP, Waterman MJ, Wiley S, Wilson A, Yerena-de Vega MC, Zori RT, Levy B, Brunner HG, de Leeuw N, Kloosterman WP, Thorland EC, Morton CC, Gusella JF, Talkowski ME. The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. Nat Genet. 2017 01; 49(1):36-45. PMID: 27841880.
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    3. Moya G. Rights of persons with conditions associated with disability: current legal framework. Arch Argent Pediatr. 2016 Aug 01; 114(4):355-60. PMID: 27399014.
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    4. Moya G, Dorado P, Ferreiro V, Naranjo MEG, Peñas-Lledó EM, LLerena A. High frequency of CYP2D6 ultrarapid metabolizer genotypes in an Ashkenazi Jewish population from Argentina. Pharmacogenomics J. 2017 07; 17(4):378-381. PMID: 27068265.
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    5. 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. High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme. Pharmacogenomics J. 2015 Jun; 15(3):288-92. PMID: 25348618.
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    6. Desir J, Moya G, Reish O, Van Regemorter N, Deconinck H, David KL, Meire FM, Abramowicz MJ. Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. J Med Genet. 2007 May; 44(5):322-6. PMID: 17220209.
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    7. Sánchez JM, Moya G. Adding another "hatched pink" chromosome. Genet Med. 2002 Mar-Apr; 4(2):95. PMID: 11922039.
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    8. Zurrú MC, Casas Parera I, Moya G, Giovanelli C, Genovese O, Gatto E. [Cadasil: a case with molecular diagnosis]. Medicina (B Aires). 2002; 62(1):48-52. PMID: 11965850.
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    9. Kuchinka BD, Barrett IJ, Moya G, Sánchez JM, Langlois S, Yong SL, Kalousek DK, Robinson WP. Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy. Prenat Diagn. 2001 Jan; 21(1):36-9. PMID: 11180238.
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    10. Sanchez JM, Moya G. Fluconazole teratogenicity. Prenat Diagn. 1998 Aug; 18(8):862-3. PMID: 9742580.
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    11. Sánchez JM, López De Díaz S, Panal MJ, Moya G, Kenny A, Iglesias D, Wolstenholme J. Severe fetal malformations associated with trisomy 16 confined to the placenta. Prenat Diagn. 1997 Aug; 17(8):777-9. PMID: 9267904.
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