A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G) von Vieira, Natássia M, Naslavsky, Michel S, Licinio, Luciana, Kok, Fernando, Schlesinger, David, Vainzof, Mariz, Sanchez, Nury, Kitajima, João Paulo, Gal, Lihi, Cavaçana, Natale, Serafini, Peter R, Chuartzman, Silvia, Vasquez, Cristina, Mimbacas, Adriana, Nigro, Vincenzo, Pavanello, Rita C, Schuldiner, Maya, Kunkel, Louis M, Zatz, Mayana

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The Genetic Profile from HLA and Non-HLA Loci Allows Identification of Atypical Type 2 Diabetes Patients von Vitarella, Graciela, Javiel, Gerardo, Fernandez, Mariana, Fabregat, Matias, Mimbacas, Adriana

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HLA alleles may serve as a tool to discriminate atypical type 2 diabetic patients von Fernández, Mariana, Fabregat, Matías, Javiel, Gerardo, Mimbacas, Adriana

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Association of TCF7L2 mutation and atypical diabetes in a Uruguayan population von Beloso, Carolina, Souto, Jorge, Fabregat, Matias, Romanelli, Gerardo, Javiel, Gerardo, Mimbacas, Adriana

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Amerindian mtDNA Haplogroups and Celiac Disease Risk HLA Haplotypes in Mixed‐blood Latin American Patients von Parada, Alejandra, Araya, Magdalena, Pérez‐Bravo, Francisco, Méndez, Marco, Mimbacas, Adriana, Motta, Patricia, Martín, Gabriela, Botero, Jorge, Espinosa, Nelly, Alarcon, Teresa, Canales, Paulina

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Megacariopoyesis humana in vitro: determinación de la concentración óptima de trombopoyetina von Gerardo Romanelli, Silvia Olivera-Bravo, Carolina Beloso, Lucía Veiga, Noelia García, Hugo Giordano, Juan Claudio Benech, Inés Rauschert, Gustavo Folle, Adriana Mimbacas

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Enfermedad de hígado graso no alcohólico: abordaje clínico y genético. Primer estudio nacional von Beloso, Carolina, Pintos, Marcos, Perendones, Mercedes, Mimbacas, Adriana

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Megacariopoyesis humana in vitro: determinación de la concentración óptima de trombopoyetina von Romanelli, Gerardo, Olivera-Bravo, Silvia, Beloso, Carolina, Veiga, Lucía, García, Noelia, Giordano, Hugo, Benech, Juan Claudio, Rauschert, Inés, Folle, Gustavo, Mimbacas, Adriana

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Megacariopoyesis humana in vitro von Gerardo Romanelli, Silvia Olivera-Bravo, Carolina Beloso, Lucía Veiga, Noelia García, Hugo Giordano, Juan Claudio Benech, Inés Rauschert, Gustavo Folle, Adriana Mimbacas

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The phenotype masks the genotype: A possible new expression of diabetes von Mimbacas, Adriana, Vitarella, Graciela, Souto, Jorge, Reyes, Ana Laura, Farias, Joaquina, Fernández, Mariana, Fabregat, Matias, Javiel, Gerardo

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Loss of TP53-DNA interaction induced by p.C135R in lung cancer von ARANDA, Marcela, GONZALEZ-NILO, Fernando, RIADI, Gonzalo, DIAZ, Victor, PEREZ, Jose, MARTEL, Ghyslaine, HAINAUT, Pierre, MIMBACAS, Adriana

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Frequencies of the Four Major Amerindian mtDNA Haplogroups in the Population of Montevideo, Uruguay von GASCUE, CECILIA, MIMBACAS, ADRIANA, SANS, MÓNICA, GALLINO, JUAN PABLO, BERTONI, BERNARDO, HIDALGO, PEDRO, CARDOSO, HORACIO

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A low prevalence of cystic fibrosis in Uruguayans of mainly European descent von Cardoso, Horacio, Crispino, Beatriz, Mimbacas, Adriana, Cardoso, Manuel Enrique

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A recurrent chromosome 4 marker in primary squamous cell lung cancer von Mimbacas, Adriana Beatriz, Cardoso, José Horacio

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The Association between HLA DQ Genetic Polymorphism and Type 1 Diabetes in a Case-Parent Study Conducted in an Admixed Population von Mimbacas, Adriana, Pérez-Bravo, Fernando, Santos, Jose Luis, Pisciottano, Carmen, Grignola, Rosario, Javiel, Gerardo, Jorge, Ana Maria, Cardoso, Horacio

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The association between HLA DQ genetic polymorphism and type 1 diabetes von Mimbacas, Adriana, P rez-bravo, Fernando, Santos, Jose Luis, Pisciottano, Carmen, Grignola, Rosario, Javiel, Gerardo, Jorge, Ana Maria, Cardoso, Horacio

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Diabetes Type 1 and 2 : What Is Behind a Classification? von Mimbacas, Adriana

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Cystic fibrosis in Uruguay von Luzardo, Gerardo, Aznarez, Isabel, Crispino, Beatriz, Mimbacas, Adriana, Martínez, Liria, Poggio, Rossana, Zielenski, Julian, Tsui, Lap-Chee, Cardoso, Horacio

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Association between diabetes type 1 and DQB1 alleles in a case-control study conducted in Montevideo, Uruguay von Mimbacas, Adriana, Pérez-Bravo, Francisco, Hidalgo, Pedro C, Javiel, Gerardo, Pisciottano, Carmen, Grignola, Rosario, Jorge, Ana María, Gallino, Juan Pablo, Gasagoite, Jackeline, Cardoso, Horacio

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Prevalencia del polimorfismo I/D del gen de la enzima convertidora de angiotensina (ECA) en la población de Montevideo von Pilar Zorrilla, Adriana Mimbacas, Cecilia Gascue, Gerardo Javiel, Horacio Cardoso

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