publicaciones

nature

Predicting pathogenicity for novelhearing loss mutations basedon genetic and protein structureapproaches

Paula I. Buonfglio, Carlos D. Bruque, Vanesa Lotersztein, Leonela Luce, FlorenciaGiliberto, Sebastián Menazzi, Liliana Francipane, Bibiana Paoli, ErnestoGoldschmidt, Ana Belén Elgoyhen, Viviana Dalamón Hearing loss is a heterogeneous disorder. Identifcation of causative mutations is demanding due to genetic heterogeneity. In this study, we investigated the genetic cause of sensorineural hearing loss in patients with severe/profound […]

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elsevier

Adrenergic receptorsin breast cancer

Cecilia Pérez Piñero, Ezequiel Mariano Rivero, Lucía Gargiulo, María Sol Rodríguez, Carlos David Bruque, Ariana Bruzzone, Isabel Alicia Lüthy  Abstract Breast cancer is the most diagnosed malignancy in women worldwide and in the majority of the countries. Breast cancers are classified on the expression of estrogen and progesterone receptor expression and overexpression of human epidermal growth factor receptor 2 (HER2) as

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wiley

Genetic Analysis in a Familial Case With High BoneMineral Density Suggests Additive Effects at Two Loci

Núria Martínez-Gil, Diana Ovejero, Natalia Garcia-Giralt, Carlos David Bruque, Leonardo Mellibovsky, Xavier Nogués, Raquel Rabionet, Daniel Grinberg, and Susanna Balcells Abstract Osteoporosis is the most common bone disease, characterized by a low bone mineral density (BMD) and increased risk of fracture. At the other end of the BMD spectrum, some individuals present strong, fracture-resistant, bones.

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sage

Impacto sanitario de la prohibición total de publicidades de tabaco en Argentina

Jonatan Konfino, María Victoria Salgado, Joanne Penko, Pamela Coxson, Alicia Fernández, Andrés Pichon-Riviere, Kirsten Bibbins-Domingo y Raúl Mejía Resumen El objetivo fue estimar el impacto sanitario de la prohibición total de publicidades de productos elaborados con tabaco en términos de eventos cardiovasculares evitados en la población de mayores de 35 años en Argentina.

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