Silvia Esposito

Silvia Esposito

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Silvia Esposito

Silvia Esposito

Publications by authors named "Silvia Esposito"

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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.

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http://dx.doi.org/10.1002/humu.23929DOI Listing
January 2020

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

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.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183042
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http://dx.doi.org/10.1016/j.ejmg.2018.12.001DOI 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.

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.

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http://dx.doi.org/10.3390/genes10110892DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895873PMC
November 2019

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

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.

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http://dx.doi.org/10.3390/cancers11111772DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6896178PMC
November 2019

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

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.

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http://dx.doi.org/10.1055/s-0039-1691833DOI Listing
October 2019

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

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.

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http://dx.doi.org/10.1155/2019/7146168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348799PMC
July 2019

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

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.

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http://dx.doi.org/10.1038/s10038-017-0369-8DOI Listing
March 2018

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

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.

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http://dx.doi.org/10.1038/jhg.2017.78DOI Listing
November 2017

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

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.

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http://dx.doi.org/10.1002/mds.27175DOI Listing
November 2017

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

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.

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http://dx.doi.org/10.1016/j.ejmg.2017.03.002DOI Listing
May 2017

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

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.

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http://dx.doi.org/10.1007/s11103-016-0561-9DOI Listing
February 2017

Interleukin-30 Promotes Breast Cancer Growth and Progression.

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.

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http://dx.doi.org/10.1158/0008-5472.CAN-16-0189DOI Listing
November 2016

Vasculogenic and Angiogenic Pathways in Moyamoya Disease.

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.

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http://dx.doi.org/10.2174/092986732304160204181543DOI Listing
October 2016

Legius Syndrome: two novel mutations in the SPRED1 gene.

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

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

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http://dx.doi.org/10.1038/hgv.2015.51DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785569PMC
April 2016

126 novel mutations in Italian patients with neurofibromatosis type 1.

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.

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http://dx.doi.org/10.1002/mgg3.161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4694136PMC
November 2015

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

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.

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http://dx.doi.org/10.1177/0883073815578523DOI Listing
October 2015

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

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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4627296PMC
http://dx.doi.org/10.18632/oncotarget.2736DOI Listing
July 2015

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

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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4414147PMC
http://dx.doi.org/10.18632/oncotarget.2797DOI Listing
February 2015

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

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.

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http://journals.sagepub.com/doi/10.1177/0883073813511856
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http://dx.doi.org/10.1177/0883073813511856DOI Listing
December 2014

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

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.

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http://clincancerres.aacrjournals.org/lookup/doi/10.1158/107
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http://dx.doi.org/10.1158/1078-0432.CCR-13-2240DOI Listing
February 2014

Partial Trisomy 13 and Partial Monosomy 8 Mosaicism Secondary to an Unbalanced De Novo Translocation: Highlighting an Uncommon Chromosomal Abnormality.

J Child Neurol 2013 Nov 22;28(11):1463-1466. Epub 2013 Apr 22.

1UO Neurologia dello Sviluppo, Fondazione IRCCS Istituto Neurologico "C Besta", Milan, Italy.

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http://dx.doi.org/10.1177/0883073813483571DOI Listing
November 2013

Executive functions and cerebellar development in children.

Appl Neuropsychol Child 2013 9;2(2):97-103. Epub 2013 Jun 9.

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

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http://dx.doi.org/10.1080/21622965.2013.791092DOI Listing
October 2013

Mice anesthesia, analgesia, and care, Part I: anesthetic considerations in preclinical research.

ILAR J 2012 ;53(1):E55-69

Bioimaging and Biostructures Institute, Italian National Council of Research, Naples, Italy.

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http://dx.doi.org/10.1093/ilar.53.1.55DOI Listing
August 2013

Mice anesthesia, analgesia, and care, Part II: anesthetic considerations in preclinical imaging studies.

ILAR J 2012 ;53(1):E70-81

Bioimaging and Biostructures Institute, Italian National Council of Research, Naples, Italy.

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http://dx.doi.org/10.1093/ilar.53.1.70DOI Listing
August 2013

Congenital brain damage: cognitive development correlates with lesion and electroencephalographic features.

J Child Neurol 2013 Apr 29;28(4):446-54. Epub 2012 Jun 29.

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

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http://dx.doi.org/10.1177/0883073812447684DOI Listing
April 2013

Neurological pictures in paediatric Chiari I malformation.

Neurol Sci 2011 Dec;32 Suppl 3:S295-8

UO Neurologia dello Sviluppo, Fondazione IRCCS Istituto Neurologico C. Besta, Via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s10072-011-0744-8DOI Listing
December 2011

The neurophysiological balance in Chiari type 1 malformation (CM1), tethered cord and related syndromes.

Neurol Sci 2011 Dec;32 Suppl 3:S311-6

Fondazione IRCCS Istituto Nazionale Neurologico C.Besta, Via Celoria 11, 20133, Milan, Italy.

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http://dx.doi.org/10.1007/s10072-011-0692-3DOI Listing
December 2011