Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a...

by Jingru Lu, Xiangzhong Zhao, Alessandro Paiardini, Yanhua Lang, Irene Bottillo, Leping Shao
Published 2018-07-01

Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report

by Ruixiao Zhang, Jianhong Wang, Qing Wang, Yue Han, Xuejun Liu, Irene Bottillo, Yanhua Lang, Leping Shao
Published 2018-09-01

RAS Signaling in Colorectal Carcinomas through Alteration of RAS, RAF, NF1, and/or RASSF1A

by Terje Ahlquist, Irene Bottillo, Stine A. Danielsen, Gunn I. Meling, Torleiv O. Rognum, Guro E. Lind, Bruno Dallapiccola, Ragnhild A. Lothe
Published 2008-07-01

Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

by Sai Wang, Sai Wang, Yixiu Wang, Jinchao Wang, Zhiying Liu, Ruixiao Zhang, Xiaomeng Shi, Yue Han, Wencong Guo, Irene Bottillo, Leping Shao
Published 2020-11-01

Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy

by Irene Bottillo, Daniela D’Angelantonio, Viviana Caputo, Alessandro Paiardini, Martina Lipari, Carmelilia De Bernardo, Silvia Majore, Marco Castori, Elisabetta Zachara, Federica Re, Paola Grammatico
Published 2016-06-01

Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects

by Andrea Gerbino, Irene Bottillo, Serena Milano, Martina Lipari, Roberta De Zio, Silvia Morlino, Maria Grazia Mola, Giuseppe Procino, Federica Re, Elisabetta Zachara, Paola Grammatico, Maria Svelto, Monica Carmosino
Published 2017-12-01

Protein–protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer–Rokitansky–Küster–Hauser syndrome

by Paola Pontecorvi, Laura Bernardini, Anna Capalbo, Simona Ceccarelli, Francesca Megiorni, Enrica Vescarelli, Irene Bottillo, Nicoletta Preziosi, Maria Fabbretti, Giorgia Perniola, Pierluigi Benedetti Panici, Antonio Pizzuti, Paola Grammatico, Cinzia Marchese
Published 2021-01-01

A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes

by Paola De Simone, Irene Bottillo, Michele Valiante, Alessandra Iorio, Carmelilia De Bernardo, Silvia Majore, Daniela D’Angelantonio, Tiziana Valentini, Isabella Sperduti, Paolo Piemonte, Laura Eibenschutz, Angela Ferrari, Anna Carbone, Pierluigi Buccini, Alessandro Paiardini, Vitaliano Silipo, Pasquale Frascione, Paola Grammatico
Published 2020-12-01

Harmonization of Next-Generation Sequencing Procedure in Italian Laboratories: A Multi-Institutional Evaluation of the SiRe® Panel

by Umberto Malapelle, Francesco Pepe, Pasquale Pisapia, Roberta Sgariglia, Mariantonia Nacchio, Caterina De Luca, Rosanna Lacalamita, Stefania Tommasi, Rosamaria Pinto, Grazia Palomba, Giuseppe Palmieri, Davide Vacirca, Massimo Barberis, Irene Bottillo, Paola Grammatico, Lucia Rosalba Grillo, Valerio Costa, Riccardo Smeraglio, Dario Bruzzese, Giancarlo Troncone
Published 2020-03-01