Publications Authored by Silvia Esposito

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Authors:

Magdalena Koczkowska Tom Callens Yunjia Chen Alicia Gomes Alesha D Hicks Angela Sharp Eric Johns Kim Armfield Uhas Linlea Armstrong Katherine Armstrong Bosanko Dusica Babovic-Vuksanovic Laura Baker Donald G Basel Mario Bengala James T Bennett Chelsea Chambers Lola K Clarkson Maurizio Clementi Fanny M Cortés Mitch Cunningham M Daniela D'Agostino Martin B Delatycki Maria C Digilio Laura Dosa Silvia Esposito Stephanie Fox Mary-Louise Freckmann Christine Fauth Teresa Giugliano Sandra Giustini Allison Goetsch Yael Goldberg Robert S Greenwood Cristin Griffis Karen W Gripp Punita Gupta Eric Haan Rachel K Hachen Tamara L Haygarth Concepción Hernández-Chico Katelyn Hodge Robert J Hopkin Louanne Hudgins Sandra Janssens Kory Keller Geraldine Kelly-Mancuso Aaina Kochhar Bruce R Korf Andrea M Lewis Jan Liebelt Angie Lichty Robert H Listernick Michael J Lyons Isabelle Maystadt Mayra Martinez Ojeda Carey McDougall Lesley K McGregor Daniela Melis Nancy Mendelsohn Malgorzata J M Nowaczyk June Ortenberg Karin Panzer John G Pappas Mary Ella Pierpont Giulio Piluso Valentina Pinna Eniko K Pivnick Dinel A Pond Cynthia M Powell Caleb Rogers Noa Ruhrman Shahar S Lane Rutledge Veronica Saletti Sarah A Sandaradura Claudia Santoro Ulrich A Schatz Allison Schreiber Daryl A Scott Elizabeth A Sellars Ruth Sheffer Elizabeth Siqveland John M Slopis Rosemarie Smith Alberto Spalice David W Stockton Haley Streff Amy Theos Gail E Tomlinson Grace Tran Pamela L Trapane Eva Trevisson Nicole J Ullrich Jenneke Van den Ende Samantha A Schrier Vergano Stephanie E Wallace Michael F Wangler David D Weaver Kaleb H Yohay Elaine Zackai Jonathan Zonana Vickie Zurcher Kathleen B M Claes Marica Eoli Yolanda Martin Katharina Wimmer Alessandro De Luca Eric Legius Ludwine M Messiaen

Hum Mutat 2020 Jan 26;41(1):299-315. Epub 2019 Oct 26.

Department of Genetics, University of Alabama at Birmingham, Birmingham, Albama.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1002/humu.23929	DOI Listing

January 2020

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.

Authors:

Claudia Ciaccio Veronica Saletti Stefano D'Arrigo Silvia Esposito Enrico Alfei Isabella Moroni Davide Tonduti Luisa Chiapparini Chiara Pantaleoni Donatella Milani

Eur J Med Genet 2019 Dec 4;62(12):103596. Epub 2018 Dec 4.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

View Article

Download full-text PDF	Source
https://linkinghub.elsevier.com/retrieve/pii/S17697212183042	Publisher Site
http://dx.doi.org/10.1016/j.ejmg.2018.12.001	DOI Listing

December 2019

Non-Coding RNA and Tumor Development in Neurofibromatosis Type 1: Rs2151280 Is Associated with Optic Glioma Development and a Mild Phenotype in Neurofibromatosis Type 1 Patients.

Authors:

Viviana Tritto Luca Ferrari Silvia Esposito Paola Zuccotti Donatella Bianchessi Federica Natacci Veronica Saletti Marica Eoli Paola Riva

Genes (Basel) 2019 11 5;10(11). Epub 2019 Nov 5.

Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, via F.lli Cervi 93, Segrate, 20090 Milan, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.3390/genes10110892	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895873	PMC

November 2019

Brain Tumors in NF1 Children: Influence on Neurocognitive and Behavioral Outcome.

Authors:

Matilde Taddei Alessandra Erbetta Silvia Esposito Veronica Saletti Sara Bulgheroni Daria Riva

Cancers (Basel) 2019 Nov 11;11(11). Epub 2019 Nov 11.

Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.3390/cancers11111772	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896178	PMC

November 2019

Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Authors:

Giulia Melloni Marica Eoli Claudia Cesaretti Donatella Bianchessi Maria Cristina Ibba Silvia Esposito Giulietta Scuvera Guido Morcaldi Roberto Micheli Elena Piozzi Sabrina Avignone Luisa Chiapparini Chiara Pantaleoni Federica Natacci Gaetano Finocchiaro Veronica Saletti

Cancers (Basel) 2019 11 21;11(12). Epub 2019 Nov 21.

Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20121 Milan, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.3390/cancers11121838	DOI Listing

November 2019

Pott's Disease: An Emerging Source of Potentially Inappropriate Treatment.

Authors:

Silvia Esposito Marco Moscatelli Marco Paolo Schiariti Ilaria Viganò Chiara Pantaleoni Gianluca Marucci

Neuropediatrics 2019 10 29;50(5):334-335. Epub 2019 May 29.

Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, Milan, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1055/s-0039-1691833	DOI Listing

October 2019

Consolidating the Role of TDP2 Mutations in Recessive Spinocerebellar Ataxia Associated with Pediatric Onset Drug Resistant Epilepsy and Intellectual Disability (SCAR23).

Authors:

Claudia Ciaccio Raffaele Castello Silvia Esposito Michele Pinelli Vincenzo Nigro Giorgio Casari Luisa Chiapparini Chiara Pantaleoni Stefano D'Arrigo

Cerebellum 2019 Oct;18(5):972-975

Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria, 11, 20133, Milan, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1007/s12311-019-01069-7	DOI Listing

October 2019

miR-650 promotes motility of anaplastic thyroid cancer cells by targeting PPP2CA.

Authors:

Francesca Maria Orlandella Raffaela Mariarosaria Mariniello Paola Lucia Chiara Iervolino Esther Imperlini Annalisa Mandola Anna Verde Anna Elisa De Stefano Katia Pane Monica Franzese Silvia Esposito Fulvio Basolo Stefania Orrù Giuliana Salvatore

Endocrine 2019 09 29;65(3):582-594. Epub 2019 Mar 29.

IRCCS SDN, Napoli, Via Emanuele Gianturco 113, 80143, Napoli, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1007/s12020-019-01910-3	DOI Listing

September 2019

Visuoperceptual Impairment in Children with NF1: From Early Visual Processing to Procedural Strategies.

Authors:

Sara Bulgheroni Matilde Taddei Veronica Saletti Silvia Esposito Roberto Micheli Daria Riva

Behav Neurol 2019 13;2019:7146168. Epub 2019 Jan 13.

Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1155/2019/7146168	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348799	PMC

July 2019

GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease-study protocol and preliminary results.

Authors:

Anna Bersano Gloria Bedini Sara Nava Francesco Acerbi Davide Rossi Sebastiano Simona Binelli Silvana Franceschetti Giuseppe Faragò Marina Grisoli Andrea Gioppo Paolo Ferroli Maria Grazia Bruzzone Daria Riva Elisa Ciceri Chiara Pantaleoni Veronica Saletti Silvia Esposito Nardo Nardocci Federica Zibordi Luigi Caputi Stefania Bianchi Marzoli Maria Luisa Zedde Marco Pavanello Alessandro Raso Valeria Capra Leonardo Pantoni Cristina Sarti Alessandro Pezzini Filomena Caria Maria Luisa Dell' Acqua Andrea Zini Claudio Baracchini Filippo Farina Sandro Sanguigni Maria Luisa De Lodovici Giorgio Bono Fioravanti Capone Vincenzo Di Lazzaro Silvia Lanfranconi Massimiliano Toscano Vittorio Di Piero Simona Sacco Antonio Carolei Danilo Toni Maurizio Paciaroni Valeria Caso Patrizia Perrone Maria Vittoria Calloni Alfredo Romani Marco Cenzato Alessia Fratianni Emilio Ciusani Paolo Prontera Elisabeth Tournier Lasserve Kinga Blecharz Peter Vajkoczy Eugenio Agostino Parati

Neurol Sci 2019 Mar 3;40(3):561-570. Epub 2019 Jan 3.

Cerebrovascular Unit, Neurological Institute "C. Besta" IRCCS Foundation, Milan, Italy.

View Article

Download full-text PDF	Source
http://link.springer.com/10.1007/s10072-018-3664-z	Publisher Site
http://dx.doi.org/10.1007/s10072-018-3664-z	DOI Listing

March 2019

Primary brain calcification: an international study reporting novel variants and associated phenotypes.

Eur J Hum Genet 2018 10 28;26(10):1462-1477. Epub 2018 Jun 28.

Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Department of Genetics and CNR-MAJ, F 76000, Normandy Center for Genomic and Personalized Medicine, Rouen, France.

View Article

Download full-text PDF	Source
http://www.nature.com/articles/s41431-018-0185-4	Publisher Site
http://dx.doi.org/10.1038/s41431-018-0185-4	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138755	PMC

October 2018

The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.

Am J Med Genet B Neuropsychiatr Genet 2018 09 14;177(6):557-562. Epub 2018 Aug 14.

Laboratory of Clinical Pathology and Medical Genetics, Foundation IRCCS C. Besta Neurological Institute, Milan, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1002/ajmg.b.32649	DOI Listing

September 2018

Correction: The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Authors:

Arianna Tucci Veronica Saletti Francesca Menni Claudia Cesaretti Giulietta Scuvera Silvia Esposito Giulia Melloni Susanna Esposito Donatella Milani Cristina Cereda Mario Cigada Laura Tresoldi Francesco Viola Federica Natacci

J Hum Genet 2018 03 7;63(3):391. Epub 2018 Feb 7.

Medical Genetics Unit Woman, Child and Newborn department, IRCSS Foundation, Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1038/s10038-017-0369-8	DOI Listing

March 2018

The absence that makes the difference: choroidal abnormalities in Legius syndrome.

Authors:

Arianna Tucci Veronica Saletti Francesca Menni Claudia Cesaretti Giulietta Scuvera Silvia Esposito Giulia Melloni Susanna Esposito Donatella Milani Cristina Cereda Mario Cigada Laura Tresoldi Francesco Viola Federica Natacci

J Hum Genet 2017 Nov 27;62(11):1001-1004. Epub 2017 Jul 27.

Medical Genetics Unit Woman, Child and Newborn department, IRCSS Foundation, Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1038/jhg.2017.78	DOI Listing

November 2017

A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.

Authors:

Silvia Esposito Miryam Carecchio Davide Tonduti Veronica Saletti Celeste Panteghini Luisa Chiapparini Giovanna Zorzi Chiara Pantaleoni Barbara Garavaglia Dimitri Krainc Steven J Lubbe Nardo Nardocci Niccolò E Mencacci

Mov Disord 2017 11 26;32(11):1646-1647. Epub 2017 Sep 26.

Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1002/mds.27175	DOI Listing

November 2017

Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?

Authors:

Veronica Saletti Silvia Esposito Angelo Maccaro Sabrina Giglio Laura Grazia Valentini Luisa Chiapparini

Eur J Med Genet 2017 May 7;60(5):261-264. Epub 2017 Mar 7.

Neuroradiology Department, Foundation IRCCS Neurological Institute Carlo Besta, Milan, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1016/j.ejmg.2017.03.002	DOI Listing

May 2017

The Key Search Subtest of the Behavioural Assessment of the Dysexecutive Syndrome in Children (BADS-C) Instrument Reveals Impaired Planning Without External Constraints in Children With Neurofibromatosis Type 1.

Authors:

Daria Riva Chiara Vago Alessandra Erbetta Veronica Saletti Silvia Esposito Roberto Micheli Sara Bulgheroni

J Child Neurol 2017 03 20;32(4):387-396. Epub 2016 Dec 20.

1 Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1177/0883073816683322	DOI Listing

March 2017

The Arabidopsis THO/TREX component TEX1 functionally interacts with MOS11 and modulates mRNA export and alternative splicing events.

Authors:

Brian B Sørensen Hans F Ehrnsberger Silvia Esposito Alexander Pfab Astrid Bruckmann Judith Hauptmann Gunter Meister Rainer Merkl Thomas Schubert Gernot Längst Michael Melzer Marion Grasser Klaus D Grasser

Plant Mol Biol 2017 Feb 21;93(3):283-298. Epub 2016 Dec 21.

Department of Cell Biology and Plant Biochemistry, Biochemistry Centre, University of Regensburg, Universitätsstr. 31, 93053, Regensburg, Germany.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1007/s11103-016-0561-9	DOI Listing

February 2017

Interleukin-30 Promotes Breast Cancer Growth and Progression.

Authors:

Irma Airoldi Claudia Cocco Carlo Sorrentino Domenico Angelucci Serena Di Meo Lamberto Manzoli Silvia Esposito Domenico Ribatti Maria Bertolotto Laura Iezzi Clara Natoli Emma Di Carlo

Cancer Res 2016 11 22;76(21):6218-6229. Epub 2016 Aug 22.

Department of Medicine and Sciences of Aging, Division of Anatomic Pathology and Molecular Medicine, "G. d'Annunzio" University, Chieti, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1158/0008-5472.CAN-16-0189	DOI Listing

November 2016

Vasculogenic and Angiogenic Pathways in Moyamoya Disease.

Authors:

Gloria Bedini Kinga G Blecharz Sara Nava Peter Vajkoczy Giulio Alessandri Michela Ranieri Francesco Acerbi Paolo Ferroli Daria Riva Silvia Esposito Chiara Pantaleoni Nardo Nardocci Federica Zibordi Elisa Ciceri Eugenio A Parati Anna Bersano

Curr Med Chem 2016 ;23(4):315-45

Laboratory of Cellular Neurobiology, Neurology Unit, UCV, Neurological Institute "C. Besta" IRCCS Foundation, Via Celoria 11, Milan 20133, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.2174/092986732304160204181543	DOI Listing

October 2016

Legius Syndrome: two novel mutations in the SPRED1 gene.

Authors:

Marika Bianchi Veronica Saletti Roberto Micheli Silvia Esposito Anna Molinaro Stella Gagliardi Simona Orcesi Cristina Cereda

Hum Genome Var 2015 3;2:15051. Epub 2015 Dec 3.

Laboratory of Experimental Neurobiology, 'C. Mondino' National Neurological Institute , Pavia, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1038/hgv.2015.51	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785569	PMC

April 2016

SOX2 boosts major tumor progression genes in prostate cancer and is a functional biomarker of lymph node metastasis.

Authors:

Marco Vincenzo Russo Silvia Esposito Maria Grazia Tupone Lamberto Manzoli Irma Airoldi Paolo Pompa Luca Cindolo Luigi Schips Carlo Sorrentino Emma Di Carlo

Oncotarget 2016 Mar;7(11):12372-85

Department of Medicine and Sciences of Aging, "G. d'Annunzio" University, Chieti, Italy.

View Article

Download full-text PDF	Source
http://www.oncotarget.com/fulltext/6029	Publisher Site
http://dx.doi.org/10.18632/oncotarget.6029	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4914291	PMC

March 2016

126 novel mutations in Italian patients with neurofibromatosis type 1.

Authors:

Donatella Bianchessi Sara Morosini Veronica Saletti Maria Cristina Ibba Federica Natacci Silvia Esposito Claudia Cesaretti Daria Riva Gaetano Finocchiaro Marica Eoli

Mol Genet Genomic Med 2015 Nov 7;3(6):513-25. Epub 2015 Jul 7.

Molecular Neuro-oncology IRCCS Foundation, "C. Besta" Neurological Institute Milan Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1002/mgg3.161	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694136	PMC

November 2015

Low-Functioning Autism and Nonsyndromic Intellectual Disability: Magnetic Resonance Imaging (MRI) Findings.

Authors:

Alessandra Erbetta Sara Bulgheroni Valeria Elisa Contarino Luisa Chiapparini Silvia Esposito Silvia Annunziata Daria Riva

J Child Neurol 2015 Oct 20;30(12):1658-63. Epub 2015 Apr 20.

Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.

View Article

Download full-text PDF	Source
http://dx.doi.org/10.1177/0883073815578523	DOI Listing

October 2015

SNAI2/Slug gene is silenced in prostate cancer and regulates neuroendocrine differentiation, metastasis-suppressor and pluripotency gene expression.

Authors:

Silvia Esposito Marco V Russo Irma Airoldi Maria Grazia Tupone Carlo Sorrentino Giulia Barbarito Serena Di Meo Emma Di Carlo

Oncotarget 2015 Jul;6(19):17121-34

Department of Medicine and Sciences of Aging, Section of Anatomic Pathology and Molecular Medicine, "G. d'Annunzio" University, Chieti, Italy.

View Article

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627296	PMC
http://dx.doi.org/10.18632/oncotarget.2736	DOI Listing

July 2015

Interleukin-27 re-educates intratumoral myeloid cells and down-regulates stemness genes in non-small cell lung cancer.

Authors:

Irma Airoldi Maria Grazia Tupone Silvia Esposito Marco V Russo Giulia Barbarito Giuseppe Cipollone Emma Di Carlo

Oncotarget 2015 Feb;6(6):3694-708

Anatomic Pathology and Molecular Medicine, Department of Medicine and Sciences of Aging, "G. d'Annunzio" University, Chieti 66100, Italy.

View Article

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414147	PMC
http://dx.doi.org/10.18632/oncotarget.2797	DOI Listing

February 2015

Neuroimaging findings in 41 low-functioning children with autism spectrum disorder: a single-center experience.

Authors:

Alessandra Erbetta Sara Bulgheroni Valeria Contarino Luisa Chiapparini Silvia Esposito Chiara Vago Daria Riva

J Child Neurol 2014 Dec 16;29(12):1626-31. Epub 2013 Dec 16.

Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico C.Besta, via Celoria 11, 20133 Milano, Italy.

View Article

Download full-text PDF	Source
http://journals.sagepub.com/doi/10.1177/0883073813511856	Publisher Site
http://dx.doi.org/10.1177/0883073813511856	DOI Listing

December 2014

Saliva from obese individuals suppresses the release of aroma compounds from wine.

Authors:

Paola Piombino Alessandro Genovese Silvia Esposito Luigi Moio Pier Paolo Cutolo Angela Chambery Valeria Severino Elisabetta Moneta Daniel P Smith Sarah M Owens Jack A Gilbert Danilo Ercolini

PLoS One 2014 22;9(1):e85611. Epub 2014 Jan 22.

Department of Agricultural Sciences, University of Naples Federico II, Portici, Italy.

View Article

Download full-text PDF	Source
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0085611	PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3899019	PMC

December 2014

Interleukin-30 expression in prostate cancer and its draining lymph nodes correlates with advanced grade and stage.

Authors:

Serena Di Meo Irma Airoldi Carlo Sorrentino Alessia Zorzoli Silvia Esposito Emma Di Carlo

Clin Cancer Res 2014 Feb 25;20(3):585-94. Epub 2013 Nov 25.

Authors' Affiliations: Department of Medicine and Sciences of Aging, Section of Anatomic Pathology and Molecular Medicine; Ce.S.I. Aging Research Center, "G. d'Annunzio" University Foundation, Chieti; and Laboratory of Oncology, Istituto Giannina Gaslini, Genova, Italy.

View Article