Vittoria Disciglio

Vittoria Disciglio

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Vittoria Disciglio

Vittoria Disciglio

Publications by authors named "Vittoria Disciglio"

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Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with mutation at the extreme 3'-end.

Authors:
Vittoria Disciglio Candida Fasano Filomena Cariola Giovanna Forte Valentina Grossi Paola Sanese Martina Lepore Signorile Nicoletta Resta Claudio Lotesoriere Alessandro Stella Ivan Lolli Cristiano Simone

J Med Genet 2019 Oct 7. Epub 2019 Oct 7.

Medical Genetics, National Institute of Gastroenterology "S. de Bellis", Research Hospital, Castellana Grotte, Italy

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http://dx.doi.org/10.1136/jmedgenet-2019-106299DOI Listing
October 2019

FOXO3a from the Nucleus to the Mitochondria: A Round Trip in Cellular Stress Response.

Authors:
Candida Fasano Vittoria Disciglio Stefania Bertora Martina Lepore Signorile Cristiano Simone

Cells 2019 Sep 19;8(9). Epub 2019 Sep 19.

National Institute of Gastroenterology, "S. de Bellis" Research Hospital, 70013 Castellana Grotte (Bari), Italy.

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http://dx.doi.org/10.3390/cells8091110DOI Listing
September 2019

FOXO3 on the Road to Longevity: Lessons From SNPs and Chromatin Hubs.

Authors:
Paola Sanese Giovanna Forte Vittoria Disciglio Valentina Grossi Cristiano Simone

Comput Struct Biotechnol J 2019 13;17:737-745. Epub 2019 Jun 13.

Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari Aldo Moro, Piazza G. Cesare, 11, 70124 Bari, Italy.

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http://dx.doi.org/10.1016/j.csbj.2019.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6606898PMC
June 2019

Characterization of a rare variant (c.2635-2A>G) of the MSH2 gene in a family with Lynch syndrome.

Authors:
Filomena Cariola Vittoria Disciglio Anna M Valentini Claudio Lotesoriere Candida Fasano Giovanna Forte Luciana Russo Antonio Di Carlo Floranna Guglielmi Andrea Manghisi Ivan Lolli Maria L Caruso Cristiano Simone

Int J Biol Markers 2018 Apr 24:1724600818766496. Epub 2018 Apr 24.

1 Medical Genetics, National Institute of Gastroenterology, IRCCS "S. De Bellis," Castellana Grotte, Bari, Italy.

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http://dx.doi.org/10.1177/1724600818766496DOI Listing
April 2018

Whole exome sequencing and single nucleotide polymorphism array analyses to identify germline alterations in genes associated with testosterone metabolism in a patient with androgen insensitivity syndrome and early-onset colorectal cancer.

Authors:
Vittoria Disciglio Andrea Devecchi Orazio Palumbo Massimo Carella Donata Penso Massimo Milione Giorgio Valle Marco Alessandro Pierotti Marco Vitellaro Lucio Bertario Silvana Canevari Stefano Signoroni Loris De Cecco

Chin J Cancer 2016 06 7;35(1):51. Epub 2016 Jun 7.

Department of Experimental Oncology and Molecular Medicine, Functional Genomics and Bioinformatics, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133, Milan, Italy.

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http://dx.doi.org/10.1186/s40880-016-0115-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4897824PMC
June 2016

Identification of a gene expression driven progression pathway in myxoid liposarcoma.

Authors:
Loris De Cecco Tiziana Negri Silvia Brich Valentina Mauro Fabio Bozzi GianPaolo Dagrada Vittoria Disciglio Roberta Sanfilippo Alessandro Gronchi Maurizio D'Incalci Paolo G Casali Silvana Canevari Marco A Pierotti Silvana Pilotti

Oncotarget 2014 Aug;5(15):5965-77

Laboratory of Experimental Molecular Pathology, Department of Diagnostic Pathology and Laboratory, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4171605PMC
http://dx.doi.org/10.18632/oncotarget.2023DOI Listing
August 2014

Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.

Authors:
Vittoria Disciglio Caterina Lo Rizzo Maria Antonietta Mencarelli Mafalda Mucciolo Annabella Marozza Chiara Di Marco Antonio Massarelli Valentina Canocchi Margherita Baldassarri Enea Ndoni Elisa Frullanti Sonia Amabile Britt Marie Anderlid Kay Metcalfe Cédric Le Caignec Albert David Alan Fryer Odile Boute Andrieux Joris Donatella Greco Vanna Pecile Roberta Battini Antonio Novelli Marco Fichera Corrado Romano Francesca Mari Alessandra Renieri

Am J Med Genet A 2014 Jul 3;164A(7):1666-76. Epub 2014 Apr 3.

Medical Genetics, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1002/ajmg.a.36513DOI Listing
July 2014

A large de novo 9p21.3 deletion in a girl affected by astrocytoma and multiple melanoma.

Authors:
Simona Frigerio Vittoria Disciglio Siranoush Manoukian Bernard Peissel Gabriella Della Torre Andrea Maurichi Paola Collini Barbara Pasini Giacomo Gotti Andrea Ferrari Licia Rivoltini Maura Massimino Monica Rodolfo

BMC Med Genet 2014 May 17;15:59. Epub 2014 May 17.

Department of Experimental Oncology and Molecular Medicine, Fondazione IRCCS Istituto Nazionale dei Tumori, via Venezian 1, Milan 20133, Italy.

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http://dx.doi.org/10.1186/1471-2350-15-59DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4036080PMC
May 2014

Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA.

Authors:
Gabriella Livide Maria Carmela Epistolato Mariangela Amenduni Vittoria Disciglio Annabella Marozza Maria Antonietta Mencarelli Paolo Toti Stefano Lazzi Theodora Hadjistilianou Sonia De Francesco Alfonso D'Ambrosio Alessandra Renieri Francesca Ariani

Pathol Oncol Res 2012 Jul 26;18(3):703-12. Epub 2012 Jan 26.

Department of Biotechnology, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1007/s12253-012-9498-8DOI Listing
July 2012

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion.

Authors:
Elena Cellini Vittoria Disciglio Francesca Novara James A Barkovich Maria Antonietta Mencarelli Joussef Hayek Alessandra Renieri Orsetta Zuffardi Renzo Guerrini

Am J Med Genet A 2012 Jul 7;158A(7):1793-7. Epub 2012 Jun 7.

Child Neurology Unit, Children's Hospital A. Meyer-University of Florence, Florence, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35416DOI Listing
July 2012

iPS cells to model CDKL5-related disorders.

Authors:
Mariangela Amenduni Roberta De Filippis Aaron Y L Cheung Vittoria Disciglio Maria Carmela Epistolato Francesca Ariani Francesca Mari Maria Antonietta Mencarelli Youssef Hayek Alessandra Renieri James Ellis Ilaria Meloni

Eur J Hum Genet 2011 Dec 13;19(12):1246-55. Epub 2011 Jul 13.

Medical Genetics, Department of Biotechnology, University of Siena, Policlinico S. Maria alle Scotte, viale Bracci 2, Siena, Italy.

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http://www.nature.com/articles/ejhg2011131
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http://dx.doi.org/10.1038/ejhg.2011.131DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3218106PMC
December 2011

p53 Arg72Pro and MDM2 309 SNPs in hereditary retinoblastoma.

Authors:
Maria Carmela Epistolato Vittoria Disciglio Gabriella Livide Paola Berchialla Maria Antonietta Mencarelli Annabella Marozza Mariangela Amenduni Theodora Hadjistilianou Sonia De Francesco Antonio Acquaviva Paolo Toti Francesco Cetta Francesca Ariani Mario De Marchi Alessandra Renieri Daniela Giachino

J Hum Genet 2011 Sep 4;56(9):685-6. Epub 2011 Aug 4.

Medical Genetics, Department of Biotechnology, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1038/jhg.2011.82DOI Listing
September 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

Investigation of modifier genes within copy number variations in Rett syndrome.

Authors:
Rosangela Artuso Filomena T Papa Elisa Grillo Mafalda Mucciolo Dag H Yasui Keith W Dunaway Vittoria Disciglio Maria A Mencarelli Marzia Pollazzon Michele Zappella Giuseppe Hayek Francesca Mari Alessandra Renieri Janine M Lasalle Francesca Ariani

J Hum Genet 2011 Jul 19;56(7):508-15. Epub 2011 May 19.

Biotechnology Department, Medical Genetics Section, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1038/jhg.2011.50DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3145144PMC
July 2011