Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin

by Claudia Carnevale, Daniele Castiglia, Andrea Diociaiuti, Vittoria Proto, Simona Giancristoforo, Renata Boldrini, Giovanna Zambruno, Maya El Hachem
Published 2017-08-01

GATA-4 and FOG-2 expression in pediatric ovarian sex cord-stromal tumors replicates embryonal gonadal phenotype: results from the TREP project.

by Calogero Virgone, Giovanni Cecchetto, Andrea Ferrari, Gianni Bisogno, Vittoria Donofrio, Renata Boldrini, Paola Collini, Patrizia Dall'Igna, Rita Alaggio
Published 2012-01-01

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

by Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Maria Margollicci, Renata Boldrini, Viola Alesi, Antonio Novelli, Giovanna Zambruno, May El Hachem
Published 2019-05-01

Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient

by Andrea Diociaiuti, Enrico Rosati, Maria Giovanna Paglietti, Paola Vacca, Renata Boldrini, Elisa Pisaneschi, Daniele Castiglia, Antonio Novelli, Maya El Hachem
Published 2018-06-01

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

by Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J. Desmet, Kamal Ishak, Kuniaki Seyama, Emanuele Bellacchio
Published 2018-05-01

MYCN is an immunosuppressive oncogene dampening the expression of ligands for NK-cell-activating receptors in human high-risk neuroblastoma

by Elisa Brandetti, Irene Veneziani, Ombretta Melaiu, Annalisa Pezzolo, Aurora Castellano, Renata Boldrini, Elisa Ferretti, Doriana Fruci, Lorenzo Moretta, Vito Pistoia, Franco Locatelli, Loredana Cifaldi
Published 2017-06-01

Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases

by May El Hachem, Sabina Barresi, Andrea Diociaiuti, Renata Boldrini, Angelo Giuseppe Condorelli, Ettore Capoluongo, Vittoria Proto, Giulietta Scuvera, Cristina Has, Marco Tartaglia, Daniele Castiglia
Published 2018-11-01

Congenital Rhabdomyosarcoma: a different clinical presentation in two cases

by Ida Russo, Virginia Di Paolo, Carmelo Gurnari, Angela Mastronuzzi, Francesca Del Bufalo, Pier Luigi Di Paolo, Angela Di Giannatale, Renata Boldrini, Giuseppe Maria Milano
Published 2018-05-01

Antagomir-17-5p abolishes the growth of therapy-resistant neuroblastoma through p21 and BIM.

by Laura Fontana, Micol E Fiori, Sonia Albini, Loredana Cifaldi, Serena Giovinazzi, Matteo Forloni, Renata Boldrini, Alberto Donfrancesco, Valentina Federici, Patrizio Giacomini, Cesare Peschle, Doriana Fruci
Published 2008-05-01

High-resolution array CGH profiling identifies Na/K transporting ATPase interacting 2 (NKAIN2) as a predisposing candidate gene in neuroblastoma.

by Paolo Romania, Aurora Castellano, Cecilia Surace, Arianna Citti, Maria Antonietta De Ioris, Pietro Sirleto, Marilena De Mariano, Luca Longo, Renata Boldrini, Adriano Angioni, Franco Locatelli, Doriana Fruci
Published 2013-01-01

Fibrinogen Gamma Chain Mutations Provoke Fibrinogen and Apolipoprotein B Plasma Deficiency and Liver Storage

by Francesco Callea, Isabella Giovannoni, Sinan Sari, Esendagli Guldal, Buket Dalgic, Gulen Akyol, Tsuyoshi Sogo, Abdulrahman Al-Hussaini, Giuseppe Maggiore, Andrea Bartuli, Renata Boldrini, Paola Francalanci, Emanuele Bellacchio
Published 2017-12-01

Cellular and gene signatures of tumor-infiltrating dendritic cells and natural-killer cells predict prognosis of neuroblastoma

by Ombretta Melaiu, Marco Chierici, Valeria Lucarini, Giuseppe Jurman, Libenzio Adrian Conti, Rita De Vito, Renata Boldrini, Loredana Cifaldi, Aurora Castellano, Cesare Furlanello, Vincenzo Barnaba, Franco Locatelli, Doriana Fruci
Published 2020-11-01

IRF1 and NF-kB restore MHC class I-restricted tumor antigen processing and presentation to cytotoxic T cells in aggressive neuroblastoma.

by Silvia Lorenzi, Matteo Forloni, Loredana Cifaldi, Chiara Antonucci, Arianna Citti, Renata Boldrini, Marco Pezzullo, Aurora Castellano, Vincenzo Russo, Pierre van der Bruggen, Patrizio Giacomini, Franco Locatelli, Doriana Fruci
Published 2012-01-01

Evaluation of Endoglin (CD105) expression in pediatric rhabdomyosarcoma

by Virginia Di Paolo, Ida Russo, Renata Boldrini, Lucilla Ravà, Marco Pezzullo, Maria Chiara Benedetti, Angela Galardi, Marta Colletti, Rossella Rota, Domenico Orlando, Alessandro Crocoli, Hector Peinado, Giuseppe Maria Milano, Angela Di Giannatale
Published 2018-01-01

Tumor-infiltrating T cells and PD-L1 expression in childhood malignant extracranial germ-cell tumors

by Renata Boldrini, Maria Debora De Pasquale, Ombretta Melaiu, Marco Chierici, Giuseppe Jurman, Maria Chiara Benedetti, Nunzio C. Salfi, Aurora Castellano, Paola Collini, Cesare Furlanello, Vito Pistoia, Loredana Cifaldi, Monica Terenziani, Doriana Fruci
Published 2019-02-01

Hyper-activation of Notch3 amplifies the proliferative potential of rhabdomyosarcoma cells.

by Maria De Salvo, Lavinia Raimondi, Serena Vella, Laura Adesso, Roberta Ciarapica, Federica Verginelli, Antonio Pannuti, Arianna Citti, Renata Boldrini, Giuseppe M Milano, Antonella Cacchione, Andrea Ferrari, Paola Collini, Angelo Rosolen, Gianni Bisogno, Rita Alaggio, Alessandro Inserra, Mattia Locatelli, Stefano Stifani, Isabella Screpanti, Lucio Miele, Franco Locatelli, Rossella Rota
Published 2014-01-01

Pediatric Chronic Intestinal Failure in Italy: Report from the 2016 Survey on Behalf of Italian Society for Gastroenterology, Hepatology and Nutrition (SIGENP)

by Antonella Diamanti, Teresa Capriati, Paolo Gandullia, Grazia Di Leo, Antonella Lezo, Laura Lacitignola, Maria Immacolata Spagnuolo, Simona Gatti, Lorenzo D’Antiga, Giovanna Verlato, Paola Roggero, Sergio Amarri, Maria Elisabetta Baldassarre, Francesco Cirillo, Domenica Elia, Renata Boldrini, Angelo Campanozzi, Carlo Catassi, Marina Aloi, Claudio Romano, Manila Candusso, Nicola Cecchi, Tommaso Bellini, Elaine Tyndall, Fabio Fusaro, Tamara Caldaro, Daniele Alberti, Piergiorgio Gamba, Mario Lima, Pietro Bagolan, Jean De Ville de Goyet, Luigi Dall’Oglio, Marco Spada, Francesca Grandi
Published 2017-11-01