High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene

Autor Tricarico, Rossella, Crucianelli, Francesca, Alvau, Antonio, Orlando, Claudio, Sestini, Roberta, Tonelli, Francesco, Valanzano, Rosa, Genuardi, Maurizio
Vydáno 2011

The Use of COLD-PCR and High-Resolution Melting Analysis Improves the Limit of Detection of KRAS and BRAF Mutations in Colorectal Cancer

Autor Mancini, Irene, Santucci, Claudio, Sestini, Roberta, Simi, Lisa, Pratesi, Nicola, Cianchi, Fabio, Valanzano, Rosa, Pinzani, Pamela, Orlando, Claudio
Vydáno 2010

A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria

Autor Porfirio, Berardino, Sestini, Roberta, Gorelli, Greta, Cordovana, Miriam, Mannoni, Alessandro, Usher, Jeanette L., Introne, Wendy J., Gahl, William A., Vilboux, Thierry
Vydáno v JIMD Rep (2016)

MLH1 constitutional and somatic methylation in patients with MLH1 negative tumors fulfilling the revised Bethesda criteria

Autor Crucianelli, Francesca, Tricarico, Rossella, Turchetti, Daniela, Gorelli, Greta, Gensini, Francesca, Sestini, Roberta, Giunti, Laura, Pedroni, Monica, Ponz de Leon, Maurizio, Civitelli, Serenella, Genuardi, Maurizio
Vydáno v Epigenetics (2014)

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

Autor Contini, Elisa, Paganini, Irene, Sestini, Roberta, Candita, Luisa, Capone, Gabriele Lorenzo, Barbetti, Lorenzo, Falconi, Serena, Frusconi, Sabrina, Giotti, Irene, Giuliani, Costanza, Torricelli, Francesca, Benelli, Matteo, Papi, Laura
Vydáno v PLoS One (2015)

Expanding the mutational spectrum of LZTR1 in schwannomatosis

Autor Paganini, Irene, Chang, Vivian Y, Capone, Gabriele L, Vitte, Jeremie, Benelli, Matteo, Barbetti, Lorenzo, Sestini, Roberta, Trevisson, Eva, Hulsebos, Theo JM, Giovannini, Marco, Nelson, Stanley F, Papi, Laura
Vydáno v Eur J Hum Genet (2015)

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis

Autor Mansouri, Sheila, Suppiah, Suganth, Mamatjan, Yasin, Paganini, Irene, Liu, Jeffrey C., Karimi, Shirin, Patil, Vikas, Nassiri, Farshad, Singh, Olivia, Sundaravadanam, Yogi, Rath, Prisni, Sestini, Roberta, Gensini, Francesca, Agnihotri, Sameer, Blakeley, Jaishri, Ostrow, Kimberly, Largaespada, David, Plotkin, Scott R., Stemmer-Rachamimov, Anat, Ferrer, Marcela Maria, Pugh, Trevor J., Aldape, Kenneth D., Papi, Laura, Zadeh, Gelareh
Vydáno v Acta Neuropathol (2020)

Correction to: Epigenomic, genomic, and transcriptomic landscape of schwannomatosis

Autor Mansouri, Sheila, Suppiah, Suganth, Mamatjan, Yasin, Paganini, Irene, Liu, Jeffrey C., Karimi, Shirin, Patil, Vikas, Nassiri, Farshad, Singh, Olivia, Sundaravadanam, Yogi, Rath, Prisni, Sestini, Roberta, Gensini, Francesca, Agnihotri, Sameer, Blakeley, Jaishri, Ostrow, Kimberly, Largaespada, David, Plotkin, Scott R., Stemmer-Rachamimov, Anat, Ferrer, Marcela Maria, Pugh, Trevor J., Aldape, Kenneth D., Papi, Laura, Zadeh, Gelareh
Vydáno v Acta Neuropathol (2020)