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9 results for Vargiolu,+Manuela

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ArticlesPeer ReviewedFull Text
The KIT gene is associated with the english spotting coat color locus and congenital megacolon in Checkered Giant rabbits (Oryctolagus cuniculus)
Author / Creator:Fontanesi, Luca ; Vargiolu, Manuela ; Scotti, Emilio ; Latorre, Rocco ; Faussone Pellegrini, Maria Simonetta ; Mazzoni, Maurizio ; Asti, Martina ; Chiocchetti, Roberto ; Romeo, Giovanni ; Clavenzani, Paolo ; De Giorgio, Roberto
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-04, Vol.9 (4), p.e93750-e93750
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Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients
Author / Creator:Bonora, Elena ; Graziano, Claudio ; Minopoli, Fiorella ; Bacchelli, Elena ; Magini, Pamela ; Diquigiovanni, Chiara ; Lomartire, Silvia ; Bianco, Francesca ; Vargiolu, Manuela ; Parchi, Piero ; Marasco, Elena ; Mantovani, Vilma ; Rampoldi, Luca ; Trudu, Matteo ; Parmeggiani, Antonia ; Battaglia, Agatino ; Mazzone, Luigi ; Tortora, Giada ; Maestrini, Elena ; Seri, Marco ; Romeo, Giovanni
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2014-06, Vol.6 (6), p.795-809
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Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients
Author / Creator:Bonora, Elena ; Graziano, Claudio ; Minopoli, Fiorella ; Bacchelli, Elena ; Magini, Pamela ; Diquigiovanni, Chiara ; Lomartire, Silvia ; Bianco, Francesca ; Vargiolu, Manuela ; Parchi, Piero ; Marasco, Elena ; Mantovani, Vilma ; Rampoldi, Luca ; Trudu, Matteo ; Parmeggiani, Antonia ; Battaglia, Agatino ; Mazzone, Luigi ; Tortora, Giada ; Maestrini, Elena ; Seri, Marco ; Romeo, Giovanni
Publisher:Frankfurt: John Wiley & Sons, Inc
Journal title:EMBO molecular medicine, 2014-12, Vol.6 (12), p.1639-1639
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Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes
Author / Creator:Borghini, Silvia ; Di Duca, Marco ; Santamaria, Giuseppe ; Vargiolu, Manuela ; Bachetti, Tiziana ; Cargnin, Francesca ; Pini Prato, Alessio ; De Giorgio, Roberto ; Lerone, Margherita ; Stanghellini, Vincenzo ; Jasonni, Vincenzo ; Fornasari, Diego ; Ravazzolo, Roberto ; Ceccherini, Isabella
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2007-08, Vol.15 (8), p.848-855
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Erratum To: Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients
Author / Creator:Bonora, Elena ; Graziano, Claudio ; Minopoli, Fiorella ; Bacchelli, Elena ; Magini, Pamela ; Diquigiovanni, Chiara ; Lomartire, Silvia ; Bianco, Francesca ; Vargiolu, Manuela ; Parchi, Piero ; Marasco, Elena ; Mantovani, Vilma ; Rampoldi, Luca ; Trudu, Matteo ; Parmeggiani, Antonia ; Battaglia, Agatino ; Mazzone, Luigi ; Tortora, Giada ; Maestrini, Elena ; Seri, Marco ; Romeo, Giovanni
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2014-12, Vol.6 (12), p.1639-1639
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ArticlesPeer ReviewedFull Text
Maternally inherited genetic variants of CADPS 2 are present in Autism Spectrum Disorders and Intellectual Disability patients
Author / Creator:Bonora, Elena ; Graziano, Claudio ; Minopoli, Fiorella ; Bacchelli, Elena ; Magini, Pamela ; Diquigiovanni, Chiara ; Lomartire, Silvia ; Bianco, Francesca ; Vargiolu, Manuela ; Parchi, Piero ; Marasco, Elena ; Mantovani, Vilma ; Rampoldi, Luca ; Trudu, Matteo ; Parmeggiani, Antonia ; Battaglia, Agatino ; Mazzone, Luigi ; Tortora, Giada ; Maestrini, Elena ; Seri, Marco ; Romeo, Giovanni
Journal title:EMBO molecular medicine, 2014-12, Vol.6 (12), p.1639-1639
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ArticlesPeer ReviewedFull Text
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration
Author / Creator:Magini, Pamela ; Poscente, Monica ; Ferrari, Simona ; Vargiolu, Manuela ; Bacchelli, Elena ; Graziano, Claudio ; Wischmeijer, Anita ; Turchetti, Daniela ; Malaspina, Elisabetta ; Marchiani, Valentina ; Cordelli, Duccio Maria ; Franzoni, Emilio ; Romeo, Giovanni ; Seri, Marco
Publisher:England: BioMed Central Ltd
Journal title:Molecular cytogenetics, 2015-08, Vol.8 (1), p.58, Article 58
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ArticlesPeer ReviewedFull Text
Maternally inherited genetic variants of CADPS 2 are present in Autism Spectrum Disorders and Intellectual Disability patients
Author / Creator:Bonora, Elena ; Graziano, Claudio ; Minopoli, Fiorella ; Bacchelli, Elena ; Magini, Pamela ; Diquigiovanni, Chiara ; Lomartire, Silvia ; Bianco, Francesca ; Vargiolu, Manuela ; Parchi, Piero ; Marasco, Elena ; Mantovani, Vilma ; Rampoldi, Luca ; Trudu, Matteo ; Parmeggiani, Antonia ; Battaglia, Agatino ; Mazzone, Luigi ; Tortora, Giada ; Maestrini, Elena ; Seri, Marco ; Romeo, Giovanni
Journal title:EMBO molecular medicine, 2014-06, Vol.6 (6), p.795-809
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ReportsFull Text
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration
Author / Creator:Magini, Pamela ; Poscente, Monica ; Ferrari, Simona ; Vargiolu, Manuela ; Bacchelli, Elena ; Graziano, Claudio ; Wischmeijer, Anita ; Turchetti, Daniela ; Malaspina, Elisabetta ; Marchiani, Valentina ; Cordelli, Duccio Maria ; Franzoni, Emilio ; Romeo, Giovanni ; Seri, Marco
Journal title:Molecular cytogenetics, 2015, Vol.8, p.58-58
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The KIT gene is associated with the english spotting coat color locus and congenital megacolon in Checkered Giant rabbits (Oryctolagus cuniculus)

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Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

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Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

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Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes

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Erratum To: Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

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Maternally inherited genetic variants of CADPS 2 are present in Autism Spectrum Disorders and Intellectual Disability patients

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Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

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Maternally inherited genetic variants of CADPS 2 are present in Autism Spectrum Disorders and Intellectual Disability patients

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Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration

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