Søgeresultater - Angelo Selicorni

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  1. 1
    Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms

    Gastroesophageal reflux and Cornelia de Lange syndrome: Typical and atypical symptoms af S. Luzzani, Francesco Macchini, A. Valadè, Donatella Milani, Angelo Selicorni

    Udgivet 2003
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  2. 2
    Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

    Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome af María Clara Bonaglia, Roberto Giorda, Renato Borgatti, G. Felisari, Chiara Gagliardi, Angelo Selicorni, Orsetta Zuffardi

    Udgivet 2001
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  3. 3
    Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2

    Mapping the Wolf-Hirschhorn Syndrome Phenotype Outside the Currently Accepted WHS Critical Region and Defining a New Critical Region, WHSCR-2 af Marcella Zollino, Rosetta Lecce, Rita Fischetto, Marina Murdolo, Francesca Faravelli, Angelo Selicorni, Cinzia Buttè, Luigi Memo, Giuseppe Capovilla, Giovanni Neri

    Udgivet 2003
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  4. 4
    Choroidal Abnormalities Detected by Near-Infrared Reflectance Imaging as a New Diagnostic Criterion for Neurofibromatosis 1

    Choroidal Abnormalities Detected by Near-Infrared Reflectance Imaging as a New Diagnostic Criterion for Neurofibromatosis 1 af Francesco Viola, Edoardo Villani, Federica Natacci, Angelo Selicorni, Giulia Melloni, Diego Vezzola, Giulio Barteselli, Chiara Mapelli, Cesare Pirondini, Roberto Ratiglia

    Udgivet 2011
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  5. 5
    Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

    Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome af José P. López‐Atalaya, Cristina Gervasini, Federica Mottadelli, Silvia Spena, Maria Piccione, Gioacchino Scarano, Angelo Selicorni, Ángel Barco, Lidia Larizza

    Udgivet 2011
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  6. 6
    Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts

    Cornelia de Lange Syndrome: NIPBL haploinsufficiency downregulates canonical Wnt pathway in zebrafish embryos and patients fibroblasts af Anna Pistocchi, Grazia Fazio, Anna Cereda, Luca Ferrari, Laura Rachele Bettini, Graziella Messina, Franco Cotelli, Andrea Biondi, Angelo Selicorni, Valentina Massa

    Udgivet 2013
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  7. 7
    Refining the Phenotype of Recurrent Rearrangements of Chromosome 16

    Refining the Phenotype of Recurrent Rearrangements of Chromosome 16 af Serena Redaelli, Silvia Maitz, Francesca Crosti, Elena Sala, Nicoletta Villa, Luigina Spaccini, Angelo Selicorni, Miriam Rigoldi, Donatella Conconi, Leda Dalprà, Gaia Roversi, Angela Bentivegna

    Udgivet 2019
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  8. 8
    Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

    Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour af Angela Sparago, Silvia Russo, Flavia Cerrato, Serena Ferraiuolo, Pierangela Castorina, Angelo Selicorni, Christine Schwienbacher, Massimo Negrini, Giovanni Battista Ferrero, Margherita Silengo, Cecilia Anichini, Lidia Larizza, Andrea Riccio

    Udgivet 2006
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  9. 9
    Identification of the Gene for Oral-Facial-Digital Type I Syndrome

    Identification of the Gene for Oral-Facial-Digital Type I Syndrome af Maria Immacolata Ferrante, Sally Feather, Alessandro Bulfone, Victoria Wright, Michela Ghiani, Angelo Selicorni, Linda Gammaro, Francesco Scolari, Adrian S. Woolf, Odent Sylvie, Le Marec Bernard, Sue Malcolm, Robin Winter, Andrea Ballabio, Giovanna Giorgio, Brunella Franco

    Udgivet 2001
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  10. 10
    Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide: a modified Delphi study

    Literature review and expert opinion on the impact of achondroplasia on medical complications and health-related quality of life and expectations for long-term impact of vosoritide... af Ravi Savarirayan, Wagner Antonio da Rosa Baratela, Thomas Butt, Valérie Cormier‐Daire, Melita Irving, Bradley S. Miller, Klaus Mohnike, Keiichi Ozono, Ron G. Rosenfeld, Angelo Selicorni, Dominic Thompson, Klane K. White, Michael Wright, Svein O. Fredwall

    Udgivet 2022
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  11. 11
    Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation

    Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation af Sabrina Giglio, Vladimiro Calvari, Giuliana Gregato, Giorgio Gimelli, Silvia Camanini, Roberto Giorda, Angela Ragusa, Silvana Guerneri, Angelo Selicorni, Marcus Stumm, Holger Tönnies, Mario Ventura, Marcella Zollino, Giovanni Neri, John Barber, Dagmar Wieczorek, Mariano Rocchi, Orsetta Zuffardi

    Udgivet 2002
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  12. 12
    Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients

    Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients af Angela Bentivegna, Donatella Milani, Cristina Gervasini, Paola Castronovo, Federica Mottadelli, Stefano Manzini, Patrizia Colapietro, Lucio Giordano, Francesca Atzeri, Maria Teresa Divizia, Maria Luisa Giovannucci Uzielli, Giovanni Neri, Maria Francesca Bedeschi, Francesca Faravelli, Angelo Selicorni, Lidia Larizza

    Udgivet 2006
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  13. 13
    eP204: Expert opinions regarding impact of achondroplasia on health-related quality of life and long-term effects of vosoritide: A modified Delphi study

    eP204: Expert opinions regarding impact of achondroplasia on health-related quality of life and long-term effects of vosoritide: A modified Delphi study af Ravi Savarirayan, Wagner Antonio da Rosa Baratela, Thomas Butt, Valérie Cormier‐Daire, Melita Irving, Bradley S. Miller, Klaus Mohnike, Keiichi Ozono, Ron G. Rosenfeld, Angelo Selicorni, Dominic Thompson, Klane K. White, Michael E. Wright, Svein O. Fredwall

    Udgivet 2022
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  14. 14
    A balanced chromosomal translocation disrupting<i>ARHGEF9</i>is associated with epilepsy, anxiety, aggression, and mental retardation

    A balanced chromosomal translocation disrupting<i>ARHGEF9</i>is associated with epilepsy, anxiety, aggression, and mental retardation af Vera M. Kalscheuer, Luciana Musante, Cheng Fang, Kirsten Hoffmann, Céline Fuchs, Eloisa Carta, Emma Deas, Venkateswarlu Kanamarlapudi, Corinna Menzel, Reinhard Ullmann, Niels Tommerup, Leda Dalprà, Andreas Tzschach, Angelo Selicorni, Bernhard Lüscher, Hans‐Hilger Ropers, Kirsten Harvey, Victoria L. Harvey

    Udgivet 2008
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  15. 15
    Broadening of cohesinopathies: exome sequencing identifies mutations in <i><scp>ANKRD11</scp></i> in two patients with Cornelia de Lange‐overlapping phenotype

    Broadening of cohesinopathies: exome sequencing identifies mutations in <i><scp>ANKRD11</scp></i> in two patients with Cornelia de Lange‐overlapping phenotype af Ilaria Parenti, Cristina Gervasini, Jelena Pozojevic, Luitgard Graul‐Neumann, Jacopo Azzollini, D. Braunholz, Erwan Watrin, Kerstin S. Wendt, Anna Cereda, Davide Cittaro, Gabriele Gillessen‐Kaesbach, Dejan Lazarević, Milena Mariani, Silvia Russo, Ralf Werner, Peter Krawitz, Lidia Larizza, Angelo Selicorni, Frank J. Kaiser

    Udgivet 2015
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  16. 16
    Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome

    Diversity, parental germline origin, and phenotypic spectrum of de novo<i>HRAS</i>missense changes in Costello syndrome af Giuseppe Zampino, Francesca Pantaleoni, Claudio Carta, Gilda Cobellis, Isabella Vasta, Cinzia Neri, Edgar A. Pogna, Emma De Feo, Angelica Bibiana Delogu, Anna Sárközy, Francesca Atzeri, Angelo Selicorni, Katherine A. Rauen, Cheryl Cytrynbaum, Rosanna Weksberg, Bruno Dallapiccola, Andrea Ballabio, Bruce D. Gelb, Giovanni Neri, Marco Tartaglia

    Udgivet 2006
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  17. 17
    DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies

    DNA methylation episignature testing improves molecular diagnosis of Mendelian chromatinopathies af Jennifer Kerkhof, Gabriella Maria Squeo, Haley McConkey, Michael A. Levy, Maria Rosaria Piemontese, Marco Castori, Maria Accadia, Elisa Biamino, Matteo Della Monica, Marilena Carmela Di Giacomo, Cristina Gervasini, Silvia Maitz, Daniela Melis, Donatella Milani, Maria Piccione, Paolo Prontera, Angelo Selicorni, Bekim Sadiković, Giuseppe Merla

    Udgivet 2021
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  18. 18
    (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome

    (Epi)genotype–phenotype correlations in Beckwith–Wiedemann syndrome af Alessandro Mussa, Silvia Russo, Agostina De Crescenzo, Andrea Freschi, Luciano Calzari, Silvia Maitz, Marina Macchiaiolo, Cristina Molinatto, Giuseppina Baldassarre, Milena Mariani, Luigi Tarani, Maria Francesca Bedeschi, Donatella Milani, Daniela Melis, Andrea Bartuli, Maria Vittoria Cubellis, Angelo Selicorni, Margherita Silengo, Lidia Larizza, Andrea Riccio, Giovanni Battista Ferrero

    Udgivet 2015
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  19. 19
    In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS)

    In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS) af Carlotta Ranieri, Silvia Di Tommaso, Daria Carmela Loconte, Valentina Grossi, Paola Sanese, Rosanna Bagnulo, Francesco Susca, Giovanna Forte, Alessia Peserico, Annunziata De Luisi, Andrea Bartuli, Angelo Selicorni, Daniela Melis, Margherita Lerone, Andrea D. Praticò, Giovanni Abbadessa, Yi Yu, Brian Schwartz, Martino Ruggieri, Cristiano Simone, Nicoletta Resta

    Udgivet 2018
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  20. 20
    Nomenclature and definition in asymmetric regional body overgrowth

    Nomenclature and definition in asymmetric regional body overgrowth af Jennifer M. Kalish, Leslie G. Biesecker, Frédéric Brioude, Matthew A. Deardorff, Alessandra Di Cesare‐Merlone, Todd E. Druley, Giovanni Battista Ferrero, Pablo Lapunzina, Lidia Larizza, Saskia M. Maas, Marina Macchiaiolo, Eamonn R. Maher, Silvia Maitz, Julian A. Martínez‐Agosto, Alessandro Mussa, Peter N. Robinson, Silvia Russo, Angelo Selicorni, Raoul C. M. Hennekam

    Udgivet 2017
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