Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Ilenia Isidori"'
Autor:
Sandro Pignata, Giovanni Scambia, Clorinda Schettino, Laura Arenare, Carmela Pisano, Davide Lombardi, Ugo De Giorgi, Claudia Andreetta, Saverio Cinieri, Carmine De Angelis, Domenico Priolo, Claudia Casanova, Marta Rosati, Filippo Greco, Elena Zafarana, Ilaria Schiavetto, Serafina Mammoliti, Sabrina Chiara Cecere, Vanda Salutari, Simona Scalone, Alberto Farolfi, Marilena Di Napoli, Domenica Lorusso, Piera Gargiulo, Daniela Califano, Daniela Russo, Anna Spina, Rossella De Cecio, Paolo Chiodini, Francesco Perrone, Valentina Accinno, Chiara Altavilla, Giovanna Antonelli, Grazia Artioli, Francesco Avola, Bonifacio Barbara, Valentina Barbato, Michele Bartoletti, Simona Bevilacqua, Roberto Bordonaro, Oriana Borghese, Gaetano Buonfanti, Floriana Camarda, Giuliana Canzanella, Vittoria Carbone, Maria Rita Carbone, Giulia Carlo Stella, Chiara Cassani, Fabrizio Castagna, Monica Cattaneo, Margherita Cinefra, Nicoletta Colombo, Serena Corsetti, Monia Dall'Agata, Maria D'Amico, Gennaro Daniele, Elvira De Marino, Giovanni De Matteis, Sabino De Placido, Gabriella Del Bene, Antonia Del Giudice, Francesca Del Monte, Michele Del Sesto, Maddalena Donini, Giuliana Drudi, Gianluca Falcone, Adolfo Favaretto, Giulia Ferrera, Manuela Florio, Valeria Forestieri, Maria Stella Gallo, Ciro Gallo, Francesca Garibaldi, Fabiana Gerevini, Viola Ghizzoni, Maria Olga Giganti, Anna Gimigliano, Elena Giudice, Nicoletta Gnocchi, Adriano Gravina, Stefano Greggi, Maria Laura Iaia, Annalisa Ilardi, Gelsomina Iovine, Gabriella Ippoliti, Giulia Irollo, Ilenia Isidori, Mariateresa Lapresa, Giuseppe Lavenia, Laura Longhitano, Bortot Lucia, Gabriella Luzi, Sara Mariano, Valentina Marino, Giovanna Marrapese, Marilena Martino, Roberta Matocci, Enrica Mazzoni, Daniela Mercuri, Maria Mirto, Giovanna Mollo, Abbondanza Montinaro, Marta Moscatelli, Anna Maria Mosconi, Lucia Musacchio, Nicoletta Nanni, Pamela Natalucci, Milena Sabrina Nicoloso, Michele Orditura, Gabriella Maria Parma, Rodolfo Passalacqua, Michela Pelone, Maria Teresa Perri, Bruno Perrucci, Alessandra Piancastelli, Maria Carmela Piccirillo, Antonio Piccolo, Stefania Rapisardi, Giorgia Ravaglia, Teresa Ribecco, Caterina Ricci, Marianna Roccio, Fiorella Romano, Daniela Sambataro, Alfonso Savio, Ada Sbriglia, Cono Scaffa, Concetta Sergi, Francesca Sgandurra, Roberto Sorio, Stefano Stabile, Gianna Tabaro, Margherita Tambaro, Stefano Tamberi, Angelica Tecchiato, Angela Maria Trujillo, Eleonora Zaccarelli
Publikováno v:
The Lancet Oncology. 24:286-296
Background: Adding immunotherapy to first-line chemotherapy might improve outcomes for patients with advanced or recurrent endometrial cancer. We aimed to compare carboplatin and paclitaxel versus avelumab plus carboplatin and paclitaxel as first-lin
Autor:
Guido Pennoni, Ilenia Isidori, Valeria Mencarini, Amedea Mencarelli, Paolo Prontera, Giuseppe Di Cara, Gabriela Stangoni, Alberto Verrotti
Genetic testing strategies and counseling in cystic fibrosis (CF) can be problematic due to its extreme allelic heterogeneity and the difficult clinical interpretation of rare variants. Since in a previous survey of Italian CF patients, Umbria (a sma
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f90755edfcb0f94f606f0ba41a0d315d
http://hdl.handle.net/11391/1388827
http://hdl.handle.net/11391/1388827
Autor:
Ilenia Isidori, Giuseppe Merla, Daniela Rogaia, Amedea Mencarelli, Paolo Prontera, Natascia Malerba, Valentina Ottaviani, Dario Cocciadiferro, Pfundt Rolph, Gabriela Stangoni, Anneke T. Vulto-van Silfhout
Publikováno v:
American Journal of Medical Genetics. Part A, 170, 2377-82
American Journal of Medical Genetics. Part A, 170, 9, pp. 2377-82
American Journal of Medical Genetics. Part A, 170, 9, pp. 2377-82
Mutations of the MED12 gene have been reported mainly in males with FG (Opitz-Kaveggia), Lujan-Fryns, or X-linked Ohdo syndromes. Recently, a different phenotype characterized by minor anomalies, severe intellectual disability (ID), and absent langua
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ceb4fcaddda452efc8c3376264aeab7c
http://hdl.handle.net/2066/167762
http://hdl.handle.net/2066/167762
Autor:
Vita Dolzan, Chee-Seng Ku, Paolo Prontera, Paolo Fortina, Alessio Squassina, Angela Brand, Fahd Al-Mulla, Manousos E. Kambouris, Domenica Taruscio, Jennifer Livaudais-Toman, Valeria Mencarini, Rena J. Pasick, Jack Chang, Leah S. Karliner, Milan Macek, Lada Leyens, Susan L. Stewart, Satz Mengensatzproduktion, Alberto Verrotti, David Neil Cooper, Ann Dozier, Barbara Prainsack, Marc S. Williams, Giuseppe Di Cara, Dongmei Li, Robin Lee, Susan W. Groth, Amedea Mencarelli, Effy Vayena, Margaret Demment, George P. Patrinos, Ming Ta Michael Lee, Gabriela Stangoni, Celia P. Kaplan, Athanassios Vozikis, Galen Joseph, Ron H.N. van Schaik, Ilenia Isidori, Federico Innocenti, I. Diana Fernandez, Timothy D. Dye, Christina Mitropoulou, Druckerei Stückle, Guido Pennoni
Publikováno v:
Public Health Genomics. 19
Autor:
Paolo Prontera, Carmela Ardisia, G. Guercini, A. Bartocci, Emilio Donti, Amedea Mencarelli, Daniela Rogaia, Valentina Ottaviani, Ilenia Isidori
Aicardi syndrome (AIS), a rare neurodevelopmental disorder thought to be caused by an X-linked dominant mutation, is characterized by 3 main features: agenesis of corpus callosum, infantile spams and chorioretinal lacunae. A genome-wide study of a gi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ebe881ae49a89cdf375492f031af7fe
https://europepmc.org/articles/PMC3666458/
https://europepmc.org/articles/PMC3666458/
Publikováno v:
Annals of neurology. 72(5)
Autor:
Emilio Donti, Paolo Prontera, Adriana Carando, Margherita Silengo, Ilenia Isidori, Amedea Mencarelli, Emanuela Garelli
Publikováno v:
American journal of medical genetics. Part A. (11)
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome is a rare condition belonging to the group of ectodermal dysplasias caused by TP63 mutations. Its clinical phenotype is similar to ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) and limb-m