Search Results - "SESTINI, Roberta"

Expanding the mutational spectrum of LZTR1 in schwannomatosis by 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

“…Schwannomatosis is characterized by the development of multiple non-vestibular, non-intradermal schwannomas. Constitutional inactivating variants in two genes,…”
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A Systematic Assessment of Accuracy in Detecting Somatic Mosaic Variants by Deep Amplicon Sequencing: Application to NF2 Gene by 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

“…The accurate detection of low-allelic variants is still challenging, particularly for the identification of somatic mosaicism, where matched control sample is…”
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The Use of COLD-PCR and High-Resolution Melting Analysis Improves the Limit of Detection of KRAS and BRAF Mutations in Colorectal Cancer by Mancini, Irene, Santucci, Claudio, Sestini, Roberta, Simi, Lisa, Pratesi, Nicola, Cianchi, Fabio, Valanzano, Rosa, Pinzani, Pamela, Orlando, Claudio

“…Fast and reliable tests to detect mutations in human cancers are required to better define clinical samples and orient targeted therapies. KRAS mutations occur…”
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Application of COLD-PCR for Improved Detection of NF2 Mosaic Mutations by Paganini, Irene, Mancini, Irene, Baroncelli, Marta, Arena, Guido, Gensini, Francesca, Papi, Laura, Sestini, Roberta

“…Somatic mosaicism represents the coexistence of two or more cell populations with different genotypes in one person, and it is involved in >30 monogenic…”
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Broadening the spectrum of SMARCB1-associated malignant tumors: a case of uterine leiomyosarcoma in a patient with schwannomatosis by Paganini, Irene, MSc, Sestini, Roberta, PhD, Cacciatore, Matilde, MD, Capone, Gabriele L., MSc, Candita, Luisa, MD, Paolello, Concetta, MD, Sbaraglia, Marta, MD, Dei Tos, Angelo P., MD, Rossi, Sabrina, MD, PhD, Papi, Laura, MD, PhD

“…Summary Schwannomatosis is a tumor predisposition syndrome characterized by development of multiple intracranial, spinal, and peripheral schwannomas…”
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High resolution melting analysis for a rapid identification of heterozygous and homozygous sequence changes in the MUTYH gene by Tricarico, Rossella, Crucianelli, Francesca, Alvau, Antonio, Orlando, Claudio, Sestini, Roberta, Tonelli, Francesco, Valanzano, Rosa, Genuardi, Maurizio

“…MUTYH-associated polyposis (MAP) is an autosomal recessive form of intestinal polyposis predisposing to colorectal carcinoma. High resolution melting analysis…”
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Impact of E27X, a novel CDKN2A germ line mutation, on p16 and p14ARF expression in Italian melanoma families displaying pancreatic cancer and neuroblastoma by Ghiorzo, Paola, Gargiulo, Sara, Pastorino, Lorenza, Nasti, Sabina, Cusano, Roberto, Bruno, William, Gliori, Sara, Sertoli, Mario R., Burroni, Anna, Savarino, Vincenzo, Gensini, Francesca, Sestini, Roberta, Queirolo, Paola, Goldstein, Alisa M., Scarrà, Giovanna Bianchi

“…Mutations in the CDKN2A gene underlie melanoma susceptibility in as many as 50% of melanoma kindreds in selected populations, and several CDKN2A founder…”
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Premature ovarian failure and fragile X premutation: a study on 45 women by Bussani, Cecilia, Papi, Laura, Sestini, Roberta, Baldinotti, Fulvia, Bucciantini, Sandra, Bruni, Vincenzina, Scarselli, Gianfranco

“…Objective: The aim of this study was to test for the presence of the fragile X (FRAXA) premutation a group of women with early menopause. Study design: 45…”
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To buy or to do it yourself? Pollution policy and environmental goods in developing countries by Sestini, Roberta, Pugliese, Donatella

“…We analyse the effects of emissions taxes set by a developing country within a two-country model, with two asymmetric downstream firms and a foreign upstream…”
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Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas by Sestini, Roberta, Bacci, Costanza, Provenzano, Aldesia, Genuardi, Maurizio, Papi, Laura

“…Schwannomatosis is characterized by the onset of multiple intracranial, spinal, or peripheral schwannomas, without involvement of the vestibular nerve, which…”
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Unilateral Climate Policy and Foreign Direct Investment with Firm and Country Heterogeneity by Sanna-Randaccio, Francesca, Sestini, Roberta, Tarola, Ornella

“…We analyse the effects of unilateral climate policy in a two-country two-firm model, with endogenous plant location and heterogeneity in both country size and…”
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Germline mutations in MSH2 and ATM gene in patients with GIST (gastrointestinal stromal tumor) and second epitelial tumors by Gasperoni, Silvia, Papi, Laura, Castiglione, Francesca, Gensini, Francesca, Sestini, Roberta, Messerini, Luca, Bartoli, Caterina, Nozzoli, Filippo, Dimarino, Michele, Cianchi, Fabio, Taddei, Antonio, Ferrara, Angelo, Calistri, Massimo, Bencini, Lapo, Perna, Federico, Catalano, Martina, Giorgione, Roberta, Winchler, Costanza, Venturi, Giulia, Mini, Enrico

“…Abstract only e23520 Background: In adult GISTs are frequently sporadic, while rarely GISTs are linked to Carney Triad and Carney-Stratakis Syndrome and NF1…”
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Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma by Paganini, Irene, Capone, Gabriele Lorenzo, Vitte, Jeremie, Sestini, Roberta, Putignano, Anna Laura, Giovannini, Marco, Papi, Laura

“…In sporadic schwannomas, inactivation of both copies of the NF2 tumor suppressor gene on 22q is common. Constitutional mutations of SMARCB1 are responsible of…”
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Epigenomic, genomic, and transcriptomic landscape of schwannomatosis by 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

“…Schwannomatosis (SWNTS) is a genetic cancer predisposition syndrome that manifests as multiple and often painful neuronal tumors called schwannomas (SWNs)…”
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High-Resolution Melting Analysis for Rapid Detection of KRAS, BRAF, and PIK3CA Gene Mutations in Colorectal Cancer by SIMI, Lisa, PRATESI, Nicola, VIGNOLI, Marina, SESTINI, Roberta, CIANCHI, Fabio, VALANZANO, Rosa, NOBILI, Stefania, MINI, Enrico, PAZZAGLI, Mario, ORLANDO, Claudio

“…High-resolution melting analysis (HRMA) provides a valid approach to efficiently detect DNA genetic and somatic mutations. In this study, HRMA was used for the…”
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A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas by Caltabiano, Rosario, Magro, Gaetano, Polizzi, Agata, Praticò, Andrea Domenico, Ortensi, Andrea, D’Orazi, Valerio, Panunzi, Andrea, Milone, Pietro, Maiolino, Luigi, Nicita, Francesco, Capone, Gabriele Lorenzo, Sestini, Roberta, Paganini, Irene, Muglia, Mariella, Cavallaro, Sebastiano, Lanzafame, Salvatore, Papi, Laura, Ruggieri, Martino

“…Background The INI1 / SMARCB1 gene protein product has been implicated in the direct pathogenesis of schwannomas from patients with one form of schwannomatosis…”
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Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection by Capone, Gabriele Lorenzo, Putignano, Anna Laura, Trujillo Saavedra, Sharon, Paganini, Irene, Sestini, Roberta, Gensini, Francesca, De Rienzo, Irene, Papi, Laura, Porfirio, Berardino

“…The efficiency of a novel targeted next-generation sequencing (NGS) test, the Devyser BRCA kit, for a comprehensive analysis of all 48 coding exons of the…”
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Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes by Gensini, Francesca, Sestini, Roberta, De Luca, Alessandro, Pinna, Valentina, Daniele, Paola, Orzalesi, Lorenzo, Petrella, Maria Cristina, Porfirio, Berardino, Papi, Laura

“…We present a 24-year-old female patient affected by neurofibromatosis type 1 (NF1) who developed a malignant phyllodes tumor of the breast. The molecular…”
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The Impact of Unilateral Climate Policy with Endogenous Plant Location and Market Size Asymmetry by Sanna-Randaccio, Francesca, Sestini, Roberta

“…This paper analyses the impact of unilateral climate policy on firms' international location strategies in emission‐intensive sectors, when countries differ in…”
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A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome by Bottillo, Irene, Valiante, Michele, Menale, Lucia, Paiardini, Alessandro, Papi, Laura, Janson, Giacomo, Sestini, Roberta, Iorio, Alessandra, De Simone, Paola, Frascione, Pasquale, Grammatico, Paola

“…Pancreatic cancer-melanoma syndrome (PCMS) is an inherited condition in which mutation carriers have an increased risk of malignant melanoma and/or pancreatic…”
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