Search Results - Giovanni Neri

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  1. 1
    Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

    Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics by Claudia Bagni, Flora Tassone, Giovanni Neri, Randi Hagerman

    Published 2012
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  2. 2
    XLMR genes: update 2007

    XLMR genes: update 2007 by Pietro Chiurazzi, Charles E. Schwartz, Jozef Gécz, Giovanni Neri

    Published 2008
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  3. 3
    DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome

    DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome by Veronica Nobile, C Pucci, Pietro Chiurazzi, Giovanni Neri, Elisabetta Tabolacci

    Published 2021
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  4. 4
    Simpson-golabi-behmel syndrome: An X-linked encephalo-tropho-schisis syndrome

    Simpson-golabi-behmel syndrome: An X-linked encephalo-tropho-schisis syndrome by Giovanni Neri, R. Marini, Marco Cappa, P. Borrelli, John M. Opitz

    Published 2013
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  5. 5
    X‐linked intellectual disability update 2017

    X‐linked intellectual disability update 2017 by Giovanni Neri, Charles E. Schwartz, Herbert A. Lubs, Roger E. Stevenson

    Published 2018
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  6. 6
    Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations

    Epigenetic analysis reveals a euchromatic configuration in the FMR1 unmethylated full mutations by Elisabetta Tabolacci, Umberto Moscato, Francesca Zalfa, Claudia Bagni, Pietro Chiurazzi, Giovanni Neri

    Published 2008
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  7. 7
    In Vitro Reactivation of the FMR1 Gene Involved in Fragile X Syndrome

    In Vitro Reactivation of the FMR1 Gene Involved in Fragile X Syndrome by Pietro Chiurazzi, Maria Grazia Pomponi, R. Willemsen, B.A. Oostra, Giovanni Neri

    Published 1998
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  8. 8
    Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments

    Differential epigenetic modifications in the FMR1 gene of the fragile X syndrome after reactivating pharmacological treatments by Elisabetta Tabolacci, Roberta Pietrobono, Umberto Moscato, Ben A. Oostra, Pietro Chiurazzi, Giovanni Neri

    Published 2005
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  9. 9
    Elements of morphology: Standard terminology for the head and face

    Elements of morphology: Standard terminology for the head and face by Judith Allanson, Christopher Cunniff, H. Eugene Hoyme, Julie McGaughran, Maximilian Muenke, Giovanni Neri

    Published 2009
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  10. 10
    Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes

    Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes by Piero Pavone, Andrea D. Praticò, Raffaele Falsaperla, Martino Ruggieri, Marcella Zollino, Giovanni Corsello, Giovanni Neri

    Published 2015
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  11. 11
    Synergistic Effect of Histone Hyperacetylation and DNA Demethylation in the Reactivation of the FMR1 Gene

    Synergistic Effect of Histone Hyperacetylation and DNA Demethylation in the Reactivation of the FMR1 Gene by Pietro Chiurazzi, Maria Grazia Pomponi, Roberta Pietrobono, C.E. Bakker, Giovanni Neri, Ben A. Oostra

    Published 1999
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  12. 12
    TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

    TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype by Giuseppe Marangi, Vincenzo Leuzzi, Filippo Manti, Serena Lattante, Daniela Orteschi, Vanna Pecile, Giovanni Neri, Marcella Zollino

    Published 2012
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  13. 13
    Induced Degradation of Glycosaminoglycans in Hurler's and Hunter's Syndromes by Plasma Infusion

    Induced Degradation of Glycosaminoglycans in Hurler's and Hunter's Syndromes by Plasma Infusion by Nicola Di Ferrante, Buford L. Nichols, Patricia V. Donnelly, Giovanni Neri, Ruzica Hrgovcic, Robert K. Berglund

    Published 1971
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  14. 14
    Phage antibodies with pan-species recognition of the oncofoetal angiogenesis marker fibronectin ED-B domain

    Phage antibodies with pan-species recognition of the oncofoetal angiogenesis marker fibronectin ED-B domain by Barbara Carnemolla, Dario Neri, Patrizia Castellani, Alessandra Leprini, Giovanni Neri, Alessandro Pini, Greg Winter, Luciano Zardi

    Published 1996
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  15. 15
    MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1

    MED1, a novel human methyl-CpG-binding endonuclease, interacts with DNA mismatch repair protein MLH1 by Alfonso Bellacosa, Lucia Cicchillitti, Filippo Schepis, Antonio Riccio, Anthony T. Yeung, Yoshihiro Matsumoto, Erica A. Golemis, Maurizio Genuardi, Giovanni Neri

    Published 1999
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  16. 16
    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 by Marcella Zollino, Rosetta Lecce, Rita Fischetto, Marina Murdolo, Francesca Faravelli, Angelo Selicorni, Cinzia Buttè, Luigi Memo, Giuseppe Capovilla, Giovanni Neri

    Published 2003
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  17. 17
    A New Susceptibility Locus for Migraine with Aura in the 15q11-q13 Genomic Region Containing Three GABA-A Receptor Genes

    A New Susceptibility Locus for Migraine with Aura in the 15q11-q13 Genomic Region Containing Three GABA-A Receptor Genes by Luisa Russo, Paolo Mariotti, Eugenio Sangiorgi, Tiziana Giordano, Iolanda Ricci, Francesca R. Lupi, Rossella Chiera, Andrea Guzzetta, Giovanni Neri, Fiorella Gurrieri

    Published 2005
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  18. 18
    Molecular dissection of the events leading to inactivation of the FMR1 gene

    Molecular dissection of the events leading to inactivation of the FMR1 gene by Roberta Pietrobono, Elisabetta Tabolacci, Francesca Zalfa, Ilaria Zito, Antonio Terracciano, Umberto Moscato, Claudia Bagni, Ben A. Oostra, Pietro Chiurazzi, Giovanni Neri

    Published 2004
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  19. 19
    Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients

    Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients by Christina Brahe, Tiziana Vitali, Francesco Danilo Tiziano, Carla Angelozzi, Anna Maria Pinto, Federica Borgo, Umberto Moscato, Enrico Bertini, Eugenio Mercuri, Giovanni Neri

    Published 2004
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  20. 20
    The cardiofaciocutaneous syndrome

    The cardiofaciocutaneous syndrome by Amy E. Roberts, Judith Allanson, Suzanne K. Jadico, Maria Inês Kavamura, Jacqueline A. Noonan, John M. Opitz, Terry‐Lynn Young, Giovanni Neri

    Published 2006
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