Gabriele Lorenzo Capone

Gabriele Lorenzo Capone

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Gabriele Lorenzo Capone

Gabriele Lorenzo Capone

Publications by authors named "Gabriele Lorenzo Capone"

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6Publications

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Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes: An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group.

Authors:
Sarah M Nielsen Diana M Eccles Iris L Romero Fahd Al-Mulla Judith Balmaña Michela Biancolella Rien Bslok Maria Adelaide Caligo Mariarosaria Calvello Gabriele Lorenzo Capone Pietro Cavalli T L Chris Chan Kathleen B M Claes Laura Cortesi Fergus J Couch Miguel de la Hoya Simona De Toffol Orland Diez Susan M Domchek Ros Eeles Anna Efremidis Florentia Fostira David Goldgar Andreas Hadjisavvas Thomas V O Hansen Akira Hirasawa Claude Houdayer Petra Kleiblova Sophie Krieger Conxi Lázaro Maria Loizidou Siranoush Manoukian Arjen R Mensenkamp Setareh Moghadasi Alvaro N Monteiro Luigi Mori April Morrow Nadia Naldi Henriette R Nielsen Olufunmilayo I Olopade Nicholas S Pachter Edenir I Palmero Inge S Pedersen Maria Piane Marianna Puzzo Mark Robson Maria Rossing Maria Christina Sini Angela Solano Jana Soukupova Gianluca Tedaldi Manuel Teixeira Mads Thomassen Maria Grazia Tibiletti Amanda Toland Therese Törngren Erica Vaccari Liliana Varesco Ana Vega Yvonne Wallis Barbara Wappenschmidt Jeffrey Weitzel Amanda B Spurdle Arcangela De Nicolo Encarna B Gómez-García

JCO Precis Oncol 2018 26;2. Epub 2018 Oct 26.

Maastricht University Medical Center, Maastricht.

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http://dx.doi.org/10.1200/PO.18.00091DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6742430PMC
October 2018

Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.

Authors:
Irene Paganini Gabriele Lorenzo Capone Jeremie Vitte Roberta Sestini Anna Laura Putignano Marco Giovannini Laura Papi

J Neurooncol 2018 Mar 11;137(1):33-38. Epub 2017 Dec 11.

Department of Experimental and Clinical Biomedical Sciences "Mario Serio", Medical Genetics Unit, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1007/s11060-017-2711-6DOI Listing
March 2018

Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection.

Authors:
Gabriele Lorenzo Capone Anna Laura Putignano Sharon Trujillo Saavedra Irene Paganini Roberta Sestini Francesca Gensini Irene De Rienzo Laura Papi Berardino Porfirio

J Mol Diagn 2018 01 20;20(1):87-94. Epub 2017 Oct 20.

Department of Experimental and Clinical Biomedical Sciences Mario Serio, Medical Genetics Unit, University of Florence, Florence, Italy.

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http://dx.doi.org/10.1016/j.jmoldx.2017.09.005DOI Listing
January 2018

A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.

Authors:
Rosario Caltabiano Gaetano Magro Agata Polizzi Andrea Domenico Praticò Andrea Ortensi Valerio D'Orazi Andrea Panunzi Pietro Milone Luigi Maiolino Francesco Nicita Gabriele Lorenzo Capone Roberta Sestini Irene Paganini Mariella Muglia Sebastiano Cavallaro Salvatore Lanzafame Laura Papi Martino Ruggieri

Childs Nerv Syst 2017 Jun 1;33(6):933-940. Epub 2017 Apr 1.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, AOU "Policlinico-Vittorio Emanuele", Via S. Sofia, 78, 95124, Catania, Italy.

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http://dx.doi.org/10.1007/s00381-017-3340-2DOI Listing
June 2017

A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene.

Authors:
Elisa Contini Irene Paganini Roberta Sestini Luisa Candita Gabriele Lorenzo Capone Lorenzo Barbetti Serena Falconi Sabrina Frusconi Irene Giotti Costanza Giuliani Francesca Torricelli Matteo Benelli Laura Papi

PLoS One 2015 12;10(6):e0129099. Epub 2015 Jun 12.

Department of Biomedical Experimental and Clinical Sciences, Medical Genetics, University of Florence, Florence, Italy.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0129099PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466335PMC
April 2016

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Authors:
Paolo Peterlongo Irene Catucci Mara Colombo Laura Caleca Eliseos Mucaki Massimo Bogliolo Maria Marin Francesca Damiola Loris Bernard Valeria Pensotti Sara Volorio Valentina Dall'Olio Alfons Meindl Claus Bartram Christian Sutter Harald Surowy Valérie Sornin Marie-Gabrielle Dondon Séverine Eon-Marchais Dominique Stoppa-Lyonnet Nadine Andrieu Olga M Sinilnikova Gillian Mitchell Paul A James Ella Thompson Marina Marchetti Cristina Verzeroli Carmen Tartari Gabriele Lorenzo Capone Anna Laura Putignano Maurizio Genuardi Veronica Medici Isabella Marchi Massimo Federico Silvia Tognazzo Laura Matricardi Simona Agata Riccardo Dolcetti Lara Della Puppa Giulia Cini Viviana Gismondi Valeria Viassolo Chiara Perfumo Maria Antonietta Mencarelli Margherita Baldassarri Bernard Peissel Gaia Roversi Valentina Silvestri Piera Rizzolo Francesca Spina Caterina Vivanet Maria Grazia Tibiletti Maria Adelaide Caligo Gaetana Gambino Stefania Tommasi Brunella Pilato Carlo Tondini Chiara Corna Bernardo Bonanni Monica Barile Ana Osorio Javier Benitez Luisa Balestrino Laura Ottini Siranoush Manoukian Marco A Pierotti Alessandra Renieri Liliana Varesco Fergus J Couch Xianshu Wang Peter Devilee Florentine S Hilbers Christi J van Asperen Alessandra Viel Marco Montagna Laura Cortesi Orland Diez Judith Balmaña Jan Hauke Rita K Schmutzler Laura Papi Miguel Angel Pujana Conxi Lázaro Anna Falanga Kenneth Offit Joseph Vijai Ian Campbell Barbara Burwinkel Anders Kvist Hans Ehrencrona Sylvie Mazoyer Sara Pizzamiglio Paolo Verderio Jordi Surralles Peter K Rogan Paolo Radice

Hum Mol Genet 2015 Sep 30;24(18):5345-55. Epub 2015 Jun 30.

IFOM, the FIRC Institute of Molecular Oncology, Milan, Italy, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predictive Medicine.

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http://dx.doi.org/10.1093/hmg/ddv251DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4550823PMC
September 2015