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Genetic Predisposition to Disease
14
"Somatic Hypermutation Defects in Common Variable Immune Deficiency" (2017) Almejun, M.B.; Borge, M. Current Allergy and Asthma Reports. 17(11)
"Mitochondrial genome architecture in non-alcoholic fatty liver disease" (2016) Sookoian, S.;Flichman, D.;Scian, R. (...)Pirola, C.J. Journal of Pathology. 240(4):437-449
"Epigenetic modifications in the biology of nonalcoholic fatty liver disease: The role of DNA hydroxymethylation and TET proteins" (2015) Pirola, C.J.;Scian, R.;Gianotti, T.F. (...)Sookoian, S. Medicine (United States). 94(36)
"Glutathione-S-transferase (GST) polymorphisms are associated with relapse after radical prostatectomy" (2013) Cotignola, J.;Leonardi, D.B.;Shahabi, A. (...)Vazquez, E. Prostate Cancer and Prostatic Diseases. 16(1):28-34
"Toll-like receptor 4 D299G polymorphism in metabolic disorders: A meta-analysis" (2013) S. Belforte, F.; Coluccio Leskow, F.; Poskus, E.; Penas Steinhardt, A. Molecular Biology Reports. 40(4):3015-3020
"Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: Characterization of four novel mutations" (2012) Méndez, M.;Rossetti, M.V.;Gómez-Abecia, S. (...)Enríquez de Salamanca, R. Molecular Genetics and Metabolism. 105(4):629-633
"Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients" (2011) Minutolo, C.;Nadra, A.D.;Fernández, C. (...)Dain, L. PLoS ONE. 6(1)
"Granulomatous nephritis associated with R334Q mutation in NOD2 [5]" (2007) Meiorin, S.M.;Espada, G.;Costa, C.E. (...)Rose, C.D. Journal of Rheumatology. 34(9):1945-1947
"Histopathology of Sclerotinia sclerotiorum attack on flower parts of Helianthus annuus heads in tolerant and susceptible varieties" (2004) Rodríguez, M.A.; Venedikian, N.; Bazzalo, M.E.; Godeas, A. Mycopathologia. 157(3):291-302
"Alternative splicing: Multiple control mechanisms and involvement in human disease" (2002) Cáceres, J.F.; Kornblihtt, A.R. Trends in Genetics. 18(4):186-193
"Influence of HLA-DR alleles on rheumatoid arthritis: Susceptibility and severity in Argentine patients" (2001) Citera, G.;Padulo, L.A.;Fernandez, G. (...)Maldonado Cocco, J.A. Journal of Rheumatology. 28(7):1486-1491
"Survey of genetic counselors and clinical geneticists regarding recurrence risks for families with nonsyndromic cleft lip with or without cleft palate" (1998) Wyszynski, D.F.;Zeiger, J.;Tilli, M.T. (...)Beaty, T.H. American Journal of Medical Genetics. 79(3):184-190