SESTINI, ROBERTA
SESTINI, ROBERTA
A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria
2016 Porfirio, Berardino; Sestini, Roberta; Gorelli, Greta; Cordovana, Miriam; Mannoni, Alessandro; Usher, Jeanette L.; Introne, Wendy J.; Gahl, William A.; Vilboux, Thierry
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
2017 Caltabiano, R; Magro, G; Polizzi, A; Praticò, Ad; Ortensi, A; D'Orazi, V; Panunzi, A; Milone, P; Maiolino, L; Nicita, F; Capone, Gl; Sestini, R; Paganini, I; Muglia, M; Cavallaro, S; Lanzafame, S; Papi, L; Ruggieri, M.
A new and simple method for HLA-B*5701 screening before abacavir treatment
2010 K.Bortilozzo; C.Boschetto; K.Hajman; L.Cesaro; S.Mason; M.Baroncelli; R.Sestini; B.Porfirio
A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency
2017 Paganini, I.; Sestini, R.; Capone, G. L.; Putignano, A. L.; Contini, E.; Giotti, I.; Gensini, F.; Marozza, A.; Barilaro, A.; Porfirio, B.; Papi, L.
A systematic assessment of accuracy in detecting somatic mosaic variants by deep amplicon sequencing: Application to NF2 gene
2015 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
Adenosine triphosphate release by osmotic shock and hemoglobin A1C in diabetic subjects' erythrocytes.
1994 E. Petruzzi; C. Orlando; P. Pinzani; R. Sestini; A. Del Rosso; G. Dini; E. Tanganelli; A. Buggiani; M. Pazzagli
An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene.
2003 SORAGNA D; PAPI L; RATTI MT; R. SESTINI; TUPLER R; MONTALBETTI L.
Analysis of SAS gene and CDK4 and MDM2 proteins in low-grade osteosarcoma.
1999 P. Ragazzini; G. Gamberi; M. S. Benassi; C. Orlando; R. Sestini; C. Ferrari; L. Molendini; M. R. Sollazzo; M. Merli; G. Magagnoli; F. Bertoni; T. Bohling; M. Pazzagli; P. Picci
Application of COLD-PCR for improved detection of NF2 mosaic mutations
2014 Irene Paganini; Irene Mancini; Marta Baroncelli; Guido Arena ; Francesca Gensini; Laura Papi; Roberta Sestini
Broadening the spectrum of SMARCB1-associated malignant tumors: A case of uterine leiomyosarcoma in a patient with schwannomatosis
2015 Paganini, Irene; Sestini, Roberta; Cacciatore, Matilde; Capone, Gabriele L.; Candita, Luisa; Paolello, Concetta; Sbaraglia, Marta; Dei Tos, Angelo P.; Rossi, Sabrina; Papi, Laura
Consequences of modulating GLI-1 expression in a basal carcinoma cell line.
2005 P. Romagnoli; R. Sestini; P. Di Gennaro; S. Bacci; L. Domenici; P. Pinzani; P. Carli; M. Genuardi
Detection of BRCA1 and BRCA2 variants in circulating free DNA by using a commercial kit
2019 Capone, GL; Putignano, AL; Patuelli, A; Paganini, I; Sestini, R; Gensini, F; Marozza, A; Porfirio, B; Papi, L
Detection of c-erbB-2 amplification in transitional cell bladder carcinoma using competitive PCR technique
1996 Orlando; C.; Sestini; R.; Vona; G.; Pinzani; P.; Bianchi; S.; Giacca; M.; Pazzagli; M.; Selli; C.
Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR.
2005 Roberta Sestini; Anna Laura Putignano; Franco Ammannati; Laura Papi
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma
2018 Paganini I; Capone GL; Vitte J; Sestini R; Putignano AL; Giovannini M; Papi L.
Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes
2021 Gensini F.; Sestini R.; De Luca A.; Pinna V.; Daniele P.; Orzalesi L.; Petrella M.C.; Porfirio B.; Papi L.
Effects of reduced expression of GLI-1 gene in a basal carcinoma cell line.
2004 P. Di Gennaro; R. Sestini; A. Pacini; S. Bacci; P. Pinzani; V. cesati; L. Domenici; P. Carli; M. Genuardi; P. Romagnoli
Endothelin-1: a new autocrine/paracrine factor in rat testis.
1993 G. FANTONI; P.L. MORRIS; G. FORTI; G.B. VANNELLI; C. ORLANDO; T. BARNI; R. SESTINI; G. DANZA; M. MAGGI
Epigenomic, genomic, and transcriptomic landscape of schwannomatosis
2020 Mansouri S, Suppiah S, Mamatjan Y, Paganini I, Liu JC, Karimi S, Patil V, Nassiri F, Singh O, Sundaravadanam Y, Rath P, Sestini R, Gensini F, Agnihotri S, Blakeley J, Ostrow K, Largaespada D, Plotkin SR, Stemmer-Rachamimov A, Ferrer MM, Pugh TJ, Aldape KD, Papi L, Zadeh G
Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection
2018 Capone, Gabriele Lorenzo; Putignano, Anna Laura; Saavedra, Sharon Trujillo; Paganini, Irene; Sestini, Roberta; Gensini, Francesca; De Rienzo, Irene; Papi, Laura; Porfirio, Berardino
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria | 2016 | Porfirio, Berardino; Sestini, Roberta; Gorelli, Greta; Cordovana, Miriam; Mannoni, Alessandro; Usher, Jeanette L.; Introne, Wendy J.; Gahl, William A.; Vilboux, Thierry | |
| A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas. | 2017 | Caltabiano, R; Magro, G; Polizzi, A; Praticò, Ad; Ortensi, A; D'Orazi, V; Panunzi, A; Milone, P; Maiolino, L; Nicita, F; Capone, Gl; Sestini, R; Paganini, I; Muglia, M; Cavallaro, S; Lanzafame, S; Papi, L; Ruggieri, M. | |
| A new and simple method for HLA-B*5701 screening before abacavir treatment | 2010 | K.Bortilozzo; C.Boschetto; K.Hajman; L.Cesaro; S.Mason; M.Baroncelli; R.Sestini; B.Porfirio | |
| A novel PAX1 null homozygous mutation in autosomal recessive otofaciocervical syndrome associated with severe combined immunodeficiency | 2017 | Paganini, I.; Sestini, R.; Capone, G. L.; Putignano, A. L.; Contini, E.; Giotti, I.; Gensini, F.; Marozza, A.; Barilaro, A.; Porfirio, B.; Papi, L. | |
| A systematic assessment of accuracy in detecting somatic mosaic variants by deep amplicon sequencing: Application to NF2 gene | 2015 | 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 | |
| Adenosine triphosphate release by osmotic shock and hemoglobin A1C in diabetic subjects' erythrocytes. | 1994 | E. Petruzzi; C. Orlando; P. Pinzani; R. Sestini; A. Del Rosso; G. Dini; E. Tanganelli; A. Buggiani; M. Pazzagli | |
| An Italian family affected by Nasu-Hakola disease with a novel genetic mutation in the TREM2 gene. | 2003 | SORAGNA D; PAPI L; RATTI MT; R. SESTINI; TUPLER R; MONTALBETTI L. | |
| Analysis of SAS gene and CDK4 and MDM2 proteins in low-grade osteosarcoma. | 1999 | P. Ragazzini; G. Gamberi; M. S. Benassi; C. Orlando; R. Sestini; C. Ferrari; L. Molendini; M. R. Sollazzo; M. Merli; G. Magagnoli; F. Bertoni; T. Bohling; M. Pazzagli; P. Picci | |
| Application of COLD-PCR for improved detection of NF2 mosaic mutations | 2014 | Irene Paganini; Irene Mancini; Marta Baroncelli; Guido Arena ; Francesca Gensini; Laura Papi; Roberta Sestini | |
| Broadening the spectrum of SMARCB1-associated malignant tumors: A case of uterine leiomyosarcoma in a patient with schwannomatosis | 2015 | Paganini, Irene; Sestini, Roberta; Cacciatore, Matilde; Capone, Gabriele L.; Candita, Luisa; Paolello, Concetta; Sbaraglia, Marta; Dei Tos, Angelo P.; Rossi, Sabrina; Papi, Laura | |
| Consequences of modulating GLI-1 expression in a basal carcinoma cell line. | 2005 | P. Romagnoli; R. Sestini; P. Di Gennaro; S. Bacci; L. Domenici; P. Pinzani; P. Carli; M. Genuardi | |
| Detection of BRCA1 and BRCA2 variants in circulating free DNA by using a commercial kit | 2019 | Capone, GL; Putignano, AL; Patuelli, A; Paganini, I; Sestini, R; Gensini, F; Marozza, A; Porfirio, B; Papi, L | |
| Detection of c-erbB-2 amplification in transitional cell bladder carcinoma using competitive PCR technique | 1996 | Orlando; C.; Sestini; R.; Vona; G.; Pinzani; P.; Bianchi; S.; Giacca; M.; Pazzagli; M.; Selli; C. | |
| Detection of rearrangements in the NF2 gene using semi-quantitative multiplex fluorescent PCR. | 2005 | Roberta Sestini; Anna Laura Putignano; Franco Ammannati; Laura Papi | |
| Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma | 2018 | Paganini I; Capone GL; Vitte J; Sestini R; Putignano AL; Giovannini M; Papi L. | |
| Early-onset malignant phyllodes breast tumor in a patient with germline pathogenic variants in NF1 and BRCA1 genes | 2021 | Gensini F.; Sestini R.; De Luca A.; Pinna V.; Daniele P.; Orzalesi L.; Petrella M.C.; Porfirio B.; Papi L. | |
| Effects of reduced expression of GLI-1 gene in a basal carcinoma cell line. | 2004 | P. Di Gennaro; R. Sestini; A. Pacini; S. Bacci; P. Pinzani; V. cesati; L. Domenici; P. Carli; M. Genuardi; P. Romagnoli | |
| Endothelin-1: a new autocrine/paracrine factor in rat testis. | 1993 | G. FANTONI; P.L. MORRIS; G. FORTI; G.B. VANNELLI; C. ORLANDO; T. BARNI; R. SESTINI; G. DANZA; M. MAGGI | |
| Epigenomic, genomic, and transcriptomic landscape of schwannomatosis | 2020 | Mansouri S, Suppiah S, Mamatjan Y, Paganini I, Liu JC, Karimi S, Patil V, Nassiri F, Singh O, Sundaravadanam Y, Rath P, Sestini R, Gensini F, Agnihotri S, Blakeley J, Ostrow K, Largaespada D, Plotkin SR, Stemmer-Rachamimov A, Ferrer MM, Pugh TJ, Aldape KD, Papi L, Zadeh G | |
| Evaluation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Mutation Detection | 2018 | Capone, Gabriele Lorenzo; Putignano, Anna Laura; Saavedra, Sharon Trujillo; Paganini, Irene; Sestini, Roberta; Gensini, Francesca; De Rienzo, Irene; Papi, Laura; Porfirio, Berardino |