1. A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion. (29th July 2020) Authors: 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 Other Names: Boyanov Mihail A. Academic Editor. Journal: Case reports in endocrinology Issue: Volume 2020(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Discovery of novel mutations in the dihydropyrimidine dehydrogenase gene associated with toxicity of fluoropyrimidines and viewpoint on preemptive pharmacogenetic screening in patients. Issue 1 (December 2015) Authors: Del Re, Marzia; Michelucci, Angela; Di Leo, Angelo; Cantore, Maurizio; Bordonaro, Roberto; Simi, Paolo; Danesi, Romano Journal: EPMA journal Issue: Volume 6:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia. Issue 4 (4th January 2016) Authors: Lai, Michele; Pifferi, Massimo; Bush, Andrew; Piras, Martina; Michelucci, Angela; Di Cicco, Maria; del Grosso, Ambra; Quaranta, Paola; Cursi, Chiara; Tantillo, Elena; Franceschi, Sara; Mazzanti, Maria Chiara; Simi, Paolo; Saggese, Giuseppe; Boner, Attilio; Pistello, Mauro Journal: Journal of medical genetics Issue: Volume 53:Issue 4(2016) Page Start: 242 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Mannose‐binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia. Issue 2 (19th April 2014) Authors: Pifferi, Massimo; Bush, Andrew; Michelucci, Angela; Di Cicco, Maria; Piras, Martina; Caramella, Davide; Mazzei, Federica; Neri, Maria; Pioggia, Giovanni; Tartarisco, Gennaro; Saggese, Giuseppe; Simi, Paolo; Boner, Attilio L Journal: Pediatric pulmonology Issue: Volume 50:Issue 2(2015:Feb.) Page Start: 179 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Maternally derived 15q11.2‐q13.1 duplication in a child with Lennox–Gastaut‐type epilepsy and dysmorphic features: Clinical‐genetic characterization of the family and review of the literature. Issue 2 (14th November 2016) Authors: Bonuccelli, Alice; Valetto, Angelo; Orsini, Alessandro; Michelucci, Angela; Ferrari, Anna Rita; Elia, Maurizio; Bertini, Veronica Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 556 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Nutrition, epigenetic markers and growth in preterm infants. (2nd December 2021) Authors: Tozzi, Maria Giulia; Moscuzza, Francesca; Michelucci, Angela; Scaramuzzo, Rosa T.; Cosini, Cinzia; Chesi, Francesca; Caligo, Maria Adelaide; Ciantelli, Massimiliano; Ghirri, Paolo Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 34:Number 23(2021) Page Start: 3963 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Olfactory dysfunction is worse in primary ciliary dyskinesia compared with other causes of chronic sinusitis in children. Issue 10 (28th February 2018) Authors: Pifferi, Massimo; Bush, Andrew; Rizzo, Michele; Tonacci, Alessandro; Di Cicco, Maria; Piras, Martina; Maggi, Fabrizio; Paiola, Giulia; Michelucci, Angela; Cangiotti, Angela; Peroni, Diego; Caramella, Davide; Boner, Attilio L Journal: Thorax Issue: Volume 73:Issue 10(2018) Page Start: 980 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Uncommon dihydropyrimidine dehydrogenase mutations and toxicity by fluoropyrimidines: a lethal case with a new variant. (January 2016) Authors: Del Re, Marzia; Quaquarini, Erica; Sottotetti, Federico; Michelucci, Angela; Palumbo, Raffaella; Simi, Paolo; Danesi, Romano; Bernardo, Antonio Journal: Pharmacogenomics Issue: Volume 17:Number 1(2016) Page Start: 5 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Valproate Treatment in an ALS Patient Carrying a c.194G>A Spastin Mutation and SMN2 Homozygous Deletion. (17th July 2014) Authors: Tremolizzo, Lucio; Sala, Gessica; Conti, Elisa; Rodriguez-Menendez, Virginia; Fogli, Antonella; Michelucci, Angela; Simi, Paolo; Penco, Silvana; Lunetta, Christian; Corbo, Massimo; Ferrarese, Carlo Other Names: Huang Chin-Chang Academic Editor. Journal: Case reports in neurological medicine Issue: Volume 2014(2014) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗