Sökresultat - Elena Bonora
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The Tyrosine Kinase Receptor RET Interacts in Vivo with Aryl Hydrocarbon Receptor-Interacting Protein to Alter Survivin Availability av Manuela Vargiolu, Daniela Fusco, Ivana Kurelac, Dietmar Dirnberger, Ralf Baumeister, Isabella Morra, Antonio Melcarne, Roberto Rimondini, Giovanni Romeo, Elena Bonora
Publicerad 2009Artigo -
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Expression of the Bitter Taste Receptor, T2R38, in Enteroendocrine Cells of the Colonic Mucosa of Overweight/Obese vs. Lean Subjects av Rocco Latorre, Jennifer Huynh, Maurizio Mazzoni, Arpana Gupta, Elena Bonora, Paolo Clavenzani, Lin Chang, Emeran A. Mayer, Roberto De Giorgio, Catia Sternini
Publicerad 2016Artigo -
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A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder av Elena Bacchelli, Fabiola Ceroni, Dalila Pinto, Silvia Lomartire, Maila Giannandrea, Patrizia D’Adamo, Elena Bonora, Piero Parchi, Raffaella Tancredi, Agatino Battaglia, Elena Maestrini
Publicerad 2014Artigo -
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Defective Oxidative Phosphorylation in Thyroid Oncocytic Carcinoma Is Associated with Pathogenic Mitochondrial DNA Mutations Affecting Complexes I and III av Elena Bonora, Anna Maria Porcelli, Giuseppe Gasparre, A. Biondi, Anna Ghelli, Valério Carelli, Alessandra Baracca, Giovanni Tallini, Andrea Martinuzzi, Giorgio Lenaz, Michela Rugolo, G. Cara Romeo
Publicerad 2006Artigo -
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Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits av Kay MacDermot, Elena Bonora, Nuala Sykes, Anne-Marie Coupe, Cecilia Lai, Sonja C. Vernes, Faraneh Vargha‐Khadem, Fiona McKenzie, Robert L. Smith, Anthony P. Monaco, Simon E. Fisher
Publicerad 2005Artigo -
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Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies CAPG as a Functionally Relevant Candidate Gene av Elena Bacchelli, Eleonora Loi, Cinzia Cameli, Loredana Moi, Ana Florencia Vega-Benedetti, Sylvain Blois, Antonio Fadda, Elena Bonora, Sandra Mattu, Roberta Fadda, Rita Chessa, Elena Maestrini, Giuseppe Doneddu, Patrizia Zavattari
Publicerad 2019Artigo -
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Prucalopride exerts neuroprotection in human enteric neurons av Francesca Bianco, Elena Bonora, Dipa Natarajan, Manuela Vargiolu, Nikhil Thapar, F. Torresan, Fiorella Giancola, Elisa Boschetti, Umberto Volta, Franco Bazzoli, Maurizio Mazzoni, Marco Seri, Paolo Clavenzani, Vincenzo Stanghellini, Catia Sternini, Roberto De Giorgio
Publicerad 2016Artigo -
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HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain av Lachlan A. Jolly, Lam Son Nguyen, Deepti Domingo, Yongsheng Sun, Simon C. Barry, Miroslava Hančárová, Pavlína Plevová, Markéta Vlčková, Markéta Havlovičová, Vera M. Kalscheuer, Claudio Graziano, Tommaso Pippucci, Elena Bonora, Zdeněk Sedláček, Jozef Gécz
Publicerad 2015Artigo -
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Disruptive mitochondrial DNA mutations in complex I subunits are markers of oncocytic phenotype in thyroid tumors av Giuseppe Gasparre, Anna Maria Porcelli, Elena Bonora, Lucia Fiammetta Pennisi, Matteo Toller, Luisa Iommarini, Anna Ghelli, Massimo Moretti, Christine M. Betts, Giuseppe Martinelli, Alberto Rinaldi Ceroni, Francesco Curcio, Valério Carelli, Michela Rugolo, Giovanni Tallini, G. Cara Romeo
Publicerad 2007Artigo -
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Clonal expansion of mutated mitochondrial DNA is associated with tumor formation and complex I deficiency in the benign renal oncocytoma av Giuseppe Gasparre, Éric Hervouet, Elodie de Laplanche, Jocelyne Demont, Lucia Fiammetta Pennisi, Marc Colombel, Florence Mège‐Lechevallier, Jean–Yves Scoazec, Elena Bonora, Roel Smeets, Jan Smeitink, Vladimir Lazar, James Lespinasse, Sophie Giraud, Catherine Godinot, Giovanni Romeo, Hélène Simonnet
Publicerad 2007Artigo -
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EXCAVATOR: detecting copy number variants from whole-exome sequencing data av Alberto Magi, Lorenzo Tattini, Ingrid Cifola, Romina D’Aurizio, Matteo Benelli, Eleonora Mangano, Cristina Battaglia, Elena Bonora, Ants Kurg, Marco Seri, Pamela Magini, Betti Giusti, G. Cara Romeo, Tommaso Pippucci, Gianluca De Bellis, Rosanna Abbate, Gian Franco Gensini
Publicerad 2013Artigo -
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Protective Actions of Epithelial 5-Hydroxytryptamine 4 Receptors in Normal and Inflamed Colon av Stephanie N. Spohn, Francesca Bianco, R. Scott, Catherine M. Keenan, Alisha A. Linton, Conor H. O'Neill, Elena Bonora, Michael Dicay, Brigitte Lavoie, Rebecca Wilcox, Wallace K. MacNaughton, Roberto De Giorgio, Keith A. Sharkey, Gary M. Mawe
Publicerad 2016Artigo -
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Maternally inherited genetic variants of <i><scp>CADPS</scp>2</i> are present in Autism Spectrum Disorders and Intellectual Disability patients av Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, Elena Maestrini, Marco Seri, G. Cara Romeo
Publicerad 2014Artigo -
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Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer av Chiara Diquigiovanni, Christian Bergamini, Cecilia Evangelisti, Federica Isidori, Andrea Vettori, Natascia Tiso, Francesco Argenton, Anna Costanzini, Luisa Iommarini, Hima Anbunathan, Uberto Pagotto, Andrea Repaci, Giulia Babbi, Rita Casadio, Giorgio Lenaz, Kerry J. Rhoden, Anna Maria Porcelli, Romana Fato, A. Bowcock, Marco Seri, G. Cara Romeo, Elena Bonora
Publicerad 2018Artigo -
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Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction av Elena Bonora, Francesca Bianco, Lina Cordeddu, Michael J. Bamshad, Ludmila Francescatto, Dustin Dowless, Vincenzo Stanghellini, Rosanna Cogliandro, Greger Lindberg, Zeynel Mungan, Kıvanç Çefle, Tayfun Özçelık, Şükrü Palanduz, Şükrü Öztürk, Asuman Gedikbaşı, Alessandra Gori, Tommaso Pippucci, Claudio Graziano, Umberto Volta, Giacomo Caio, Giovanni Barbara, Mauro D’Amato, Marco Seri, Nicholas Katsanis, G. Cara Romeo, Roberto De Giorgio
Publicerad 2015Artigo -
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<emph type="ital">DICER1</emph> Mutations in Familial Multinodular Goiter With and Without Ovarian Sertoli-Leydig Cell Tumors av Thomas Rio Frio, Amin Bahubeshi, Chryssa Kanellopoulou, Nancy Hamel, Marek Niedziela, Nelly Sabbaghian, Carly Pouchet, Lucy Gilbert, Paul O'Brien, Kim Serfas, Peter Broderick, Richard S. Houlston, Fabienne Lesueur, Elena Bonora, Stefan A. Muljo, R. Neil Schimke, Dorothée Bouron‐Dal Soglio, Jocelyne Arseneau, Kris Ann P. Schultz, John R. Priest, Văn Hùng Nguyễn, H. Rubén Harach, David M. Livingston, William D. Foulkes, Marc Tischkowitz
Publicerad 2011Artigo
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Autism
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Single-nucleotide polymorphism
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Exome sequencing