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

Autor: 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

Publikováno v: PLoS ONE, Vol 10, Iss 6, p e0129099 (2015)

The accurate detection of low-allelic variants is still challenging, particularly for the identification of somatic mosaicism, where matched control sample is not available. High throughput sequencing, by the simultaneous and independent analysis of

Externí odkaz: https://doaj.org/article/a04aa457bb7e4b93b114b19406bbcc89

Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO Study)

Autor: Francesca Romana Grati, Ilaria Bestetti, Daria De Siero, Francesca Malvestiti, Nicoletta Villa, Elena Sala, Francesca Crosti, Valentina Parisi, Anna Maria Nardone, Gianluca Di Giacomo, Antonella Pettinari, Giada Tortora, Annamaria Montaldi, Annapaola Calò, Donatella Saccilotto, Sara Zanchetti, Paola Celli, Silvana Guerneri, Rosamaria Silipigni, Laura Cardarelli, Elisabetta Lippi, Simona Cavani, Michela Malacarne, Rita Genesio, Nicola Beltrami, Maria Carla Pittalis, Laura Desiderio, Mattia Gentile, Romina Ficarella, Maria Paola Recalcati, Ilaria Catusi, Maria Garzo, Lorena Miele, Cecilia Corti, Sara Ghezzo, Veronica Bertini, Francesca Cambi, Angelo Valetto, Barbara Facchinetti, Laura Bernardini, Anna Capalbo, Federica Balducci, Elisabetta Pelo, Barbara Minuti, Chiara Pescucci, Costanza Giuliani, Alessandra Renieri, Ilaria Longo, Rossella Tita, Giuseppe Castello, Rosario Casalone, Rossana Righi, Barbara Raso, Alessandro Civolani, Maria Cristina Muzi, Manuela di Natale, Luigia Varriale, Daniela Gasperini, Maria Cristina Nuzzi, Angelo Cellamare, Paola Casieri, Rosa Busuito, Caterina Ceccarini, Carla Cesarano, Orsola Privitera, Daniela Melani, Cristina Menozzi, Cristina Falcinelli, Olga Calabrese, Paola Battaglia, Antonella Tanzariello, Tamara Stampalija, Carmela Ardisia, Paolo Gasparini, Peter Benn, Antonio Novelli

Objectives: To establish the positive predictive values (PPV) of cfDNA testing based on data from a nationwide survey of independent clinical cytogenetics laboratories. Methods: Prenatal diagnostic test results obtained by Italian laboratories betwee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deddef97ee50604835da23b5f9aa9edb
https://hdl.handle.net/11368/3035240

The Val142Ile transthyretin cardiac amyloidosis

Autor: Franco Bergesio, Alessia Fabbri, Stefania Bonifacio, Costanza Giuliani, Elisa Grifoni, Sabrina Frusconi, Francesco Cappelli, Serena Falconi, Federico Perfetto

Publikováno v: Journal of Cardiovascular Medicine. 17:122-125

Transthyterin amyloidosis is a life-threatening disorder caused by the deposition of hepatocyte-derived transthyretin (TTR) amyloid in various tissues and organs. The most common worldwide pathogenic variant with almost exclusive cardiac involvement

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e05a6a0b6914521d73abb9eefd7b25aa
https://doi.org/10.2459/jcm.0000000000000290

The Val142Ile transthyretin cardiac amyloidosis: more than an Afro-American pathogenic variant

Autor: Franco Bergesio, Sabrina Frusconi, Alessia Fabbri, Francesco Cappelli, Elisa Grifoni, Costanza Giuliani, Federico Perfetto, Stefania Bonifacio, Serena Falconi

Publikováno v: Journal of Community Hospital Internal Medicine Perspectives, Vol 5, Iss 2, Pp 1-2 (2015)
Journal of Community Hospital Internal Medicine Perspectives; Vol 5, No 2 (2015)
Journal of Community Hospital Internal Medicine Perspectives

This paper has been commented on by Marc Mugmon. Please see his response here . (Published: 1 April 2015) Citation: Journal of Community Hospital Internal Medicine Perspectives 2015, 5 : 26931 - http://dx.doi.org/10.3402/jchimp.v5.26931

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::740b4c9171a3a670825475a23897b77a
http://www.jchimp.net/index.php/jchimp/article/view/26931/pdf_8

Customized first-line chemotherapy according to ERCC1 and RRM1 SNPs in advanced NSCLC patients: A phase II study

Autor: Elisa Giommoni, Luca Boni, Francesco Di Costanzo, Giacomo Allegrini, Costanza Giuliani, Francesca Torricelli, Francesca Mazzoni, Prabha Ranchicchio, Domenico Amoroso, F.L. Cecere, Francesca Martella, Andrea Camerini, Giulia Meoni

Publikováno v: Publons

e18074 Background: Excision repair cross complementing group 1 (ERCC1) and ribonucleotide reductase1 (RRM1) expression levels are predictive of CT efficacy in some malignancies. “Customized” CT has several advantages: (1) pts are more likely to b

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ee8a2a5b45db530fb8ca25ce0d258d8
https://doi.org/10.1200/jco.2012.30.15_suppl.e18074