A Novel Missense Mutation of the NSD1 Gene Associated with Overgrowth in Three Generations of an Italian Family: Case Report, Differential Diagnosis, and Review of Mutations of NSD...

by Laccetta, Gianluigi, Moscuzza, Francesca, Michelucci, Angela, Guzzetta, Andrea, Lunardi, Sara, Lorenzoni, Francesca, Ghirri, Paolo
Published in Front Pediatr (2017)

Short Stature in Isodicentric Y Chromosome and Three Copies of the SHOX Gene: Clinical Report and Review of Literature

by Valetto, Angelo, Bertini, Veronica, Michelucci, Angela, Toschi, Benedetta, Dati, Eleonora, Baroncelli, Giampietro I., Bertelloni, Silvano
Published in Mol Syndromol (2016)

ExtraUterine Growth Restriction (EUGR) in Preterm Infants: Growth Patterns, Nutrition, and Epigenetic Markers. A Pilot Study

by Tozzi, Maria Giulia, Moscuzza, Francesca, Michelucci, Angela, Lorenzoni, Francesca, Cosini, Cinzia, Ciantelli, Massimiliano, Ghirri, Paolo
Published in Front Pediatr (2018)

Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene associated with toxicity of fluoropyrimidines and viewpoint on preemptive pharmacogenetic screening in pati...

by Del Re, Marzia, Michelucci, Angela, Di Leo, Angelo, Cantore, Maurizio, Bordonaro, Roberto, Simi, Paolo, Danesi, Romano
Published in EPMA J (2015)

Maternal Uniparental Disomy 14 (Temple Syndrome) as a Result of a Robertsonian Translocation

by Bertini, Veronica, Fogli, Antonella, Bruno, Rossella, Azzarà, Alessia, Michelucci, Angela, Mattina, Teresa, Bertelloni, Silvano, Valetto, Angelo
Published in Mol Syndromol (2017)

Alagille Syndrome: A Novel Mutation in JAG1 Gene

by Fischetto, Rita, Palmieri, Viviana V., Tripaldi, Maria E., Gaeta, Alberto, Michelucci, Angela, Delvecchio, Maurizio, Francavilla, Ruggiero, Giordano, Paola
Published in Front Pediatr (2019)

Torque Teno Virus Viremia Load Size in Patients with Selected Congenital Defects of Innate Immunity

by Maggi, Fabrizio, Pifferi, Massimo, Michelucci, Angela, Albani, Melania, Sbranti, Selenia, Lanini, Letizia, Simi, Paolo, Macchia, Pierantonio, Pistello, Mauro, Bendinelli, Mauro
Published 2011

A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

by Rocca, Maria Santa, Piatti, Gioia, Michelucci, Angela, Guazzo, Raffaella, Bertini, Veronica, Vinanzi, Cinzia, Caligo, Maria Adelaide, Valetto, Angelo, Foresta, Carlo
Published in BMC Med Genet (2020)

Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion

by Tremolizzo, Lucio, Sala, Gessica, Conti, Elisa, Rodriguez-Menendez, Virginia, Fogli, Antonella, Michelucci, Angela, Simi, Paolo, Penco, Silvana, Lunetta, Christian, Corbo, Massimo, Ferrarese, Carlo
Published 2014

Understanding the Mechanisms of Resistance in EGFR-Positive NSCLC: From Tissue to Liquid Biopsy to Guide Treatment Strategy

by Del Re, Marzia, Crucitta, Stefania, Gianfilippo, Giulia, Passaro, Antonio, Petrini, Iacopo, Restante, Giuliana, Michelucci, Angela, Fogli, Stefano, de Marinis, Filippo, Porta, Camillo, Chella, Antonio, Danesi, Romano
Published in Int J Mol Sci (2019)

The KIT Exon 11 Stop Codon Mutation in Gastrointestinal Stromal Tumors: What Is the Clinical Meaning?

by Michelucci, Angela, Chiappetta, Caterina, Cacciotti, Jessica, Veccia, Norman, Astri, Elisa, Leopizzi, Martina, Prosperi Porta, Romana, Petrozza, Vincenzo, Della Rocca, Carlo, Bevilacqua, Generoso, Cavazzana, Andrea, Di Cristofano, Claudio
Published 2013

A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion

by Giani, Carlotta, Ramone, Teresa, Romei, Cristina, Ciampi, Raffaele, Tacito, Alessia, Valerio, Laura, Agate, Laura, Ugolini, Clara, Marinò, Michele, Basolo, Fulvio, Franchi, Alessandro, Borsari, Simona, Michelucci, Angela, Selli, Cesare, Materazzi, Gabriele, Cetani, Filomena, Elisei, Rossella
Published in Case Rep Endocrinol (2020)

DPYD*6 plays an important role in fluoropyrimidine toxicity in addition to DPYD*2A and c.2846A>T: a comprehensive analysis in 1254 patients

by Del Re, Marzia, Cinieri, Saverio, Michelucci, Angela, Salvadori, Stefano, Loupakis, Fotios, Schirripa, Marta, Cremolini, Chiara, Crucitta, Stefania, Barbara, Cecilia, Di Leo, Angelo, Latiano, Tiziana Pia, Pietrantonio, Filippo, Di Donato, Samantha, Simi, Paolo, Passardi, Alessandro, De Braud, Filippo, Altavilla, Giuseppe, Zamagni, Claudio, Bordonaro, Roberto, Butera, Alfredo, Maiello, Evaristo, Pinto, Carmine, Falcone, Alfredo, Mazzotti, Valentina, Morganti, Riccardo, Danesi, Romano
Published in Pharmacogenomics J (2019)