1. 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A. Issue 9 (6th July 2020) Authors: Niclass, Tanguy; Le Guyader, Gwenael; Beneteau, Claire; Joubert, Madeleine; Pizzuti, Antonio; Giuffrida, Maria Grazia; Bernardini, Laura; Gilbert‐Dussardier, Brigitte; Bilan, Frederic; Egloff, Matthieu Journal: American journal of medical genetics Issue: Volume 182:Issue 9(2020) Page Start: 2133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. Issue 3 (27th December 2019) Authors: Giuffrida, Maria G.; Mastromoro, Gioia; Guida, Valentina; Truglio, Mauro; Fabbretti, Maria; Torres, Barbara; Mazza, Tommaso; De Luca, Alessandro; Roggini, Mario; Bernardini, Laura; Pizzuti, Antonio Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 508 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel c.952T>C mutation in Notch3 gene in a patient with chronic non‐migraine‐like headache: Expanding the genotypic spectrum of CADASIL?. Issue 1 (11th April 2022) Authors: Scala, Irene; Piane, Maria; Frisullo, Giovanni; Marotta, Jessica; Bellavia, Simone; Rizzo, Pier Andrea; Rollo, Eleonora; Vollono, Catello; Pizzuti, Antonio; Brunetti, Valerio; Della Marca, Giacomo Journal: Clinical genetics Issue: Volume 102:Issue 1(2022) Page Start: 82 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. An enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene. Issue 8 (2nd June 2020) Authors: Daneshjoo, Omid; Salehi, Leila B.; Pizzuti, Antonio; Novelli, Giuseppe; Sangiuolo, Federica Journal: Clinical case reports Issue: Volume 8:Issue 8(2020) Page Start: 1445 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. BET inhibition therapy counteracts cancer cell survival, clonogenic potential and radioresistance mechanisms in rhabdomyosarcoma cells. (1st June 2020) Authors: Camero, Simona; Camicia, Lucrezia; Marampon, Francesco; Ceccarelli, Simona; Shukla, Rajeev; Mannarino, Olga; Pizer, Barry; Schiavetti, Amalia; Pizzuti, Antonio; Tombolini, Vincenzo; Marchese, Cinzia; Dominici, Carlo; Megiorni, Francesca Journal: Cancer letters Issue: Volume 479(2020) Page Start: 71 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical and functional characterization of a novel RASopathy‐causing SHOC2 mutation associated with prenatal‐onset hypertrophic cardiomyopathy. Issue 8 (6th May 2019) Authors: Motta, Marialetizia; Giancotti, Antonella; Mastromoro, Gioia; Chandramouli, Balasubramanian; Pinna, Valentina; Pantaleoni, Francesca; Di Giosaffatte, Niccolò; Petrini, Stefania; Mazza, Tommaso; D'Ambrosio, Valentina; Versacci, Paolo; Ventriglia, Flavia; Chillemi, Giovanni; Pizzuti, Antonio; Tarta... Journal: Human mutation Issue: Volume 40:Issue 8(2019) Page Start: 1046 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical Significance of MicroRNA Expression Profiles and Polymorphisms in Lung Cancer Development and Management. (27th July 2011) Authors: Megiorni, Francesca; Pizzuti, Antonio; Frati, Luigi Other Names: Van Diest P. J. Academic Editor. Journal: Pathology research international Issue: Volume 2011(2011) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Critical prenatal diagnosis and management of incidental exon 43–44 deletion in the dystrophin gene. (May 2022) Authors: Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Giancotti, Antonella; Giuffrida, Maria Grazia; Bernardini, Laura; Pizzuti, Antonio Journal: European journal of obstetrics, gynecology, and reproductive biology Issue: Volume 272(2022) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Crizotinib-induced antitumour activity in human alveolar rhabdomyosarcoma cells is not solely dependent on ALK and MET inhibition. Issue 1 (December 2015) Authors: Megiorni, Francesca; McDowell, Heather; Camero, Simona; Mannarino, Olga; Ceccarelli, Simona; Paiano, Milena; Losty, Paul; Pizer, Barry; Shukla, Rajeev; Pizzuti, Antonio; Clerico, Anna; Dominici, Carlo Journal: Journal of experimental & clinical cancer research Issue: Volume 34:Issue 1(2015) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Echocardiographic features and outcome of restrictive foramen ovale in fetuses with and without cardiac malformations: Literature review. Issue 2 (5th December 2022) Authors: Vena, Flaminia; Bartolone, Martina; D'Alberti, Elena; Vasta, Adele; Mazza, Alessandra; D'Ambrosio, Valentina; Mascio, Daniele Di; Sulce, Blerta; Pajno, Cristina; Brunelli, Roberto; Pizzuti, Antonio; Giancotti, Antonella Other Names: Rizzo Giuseppe guestEditor.; Tonni Gabriele guestEditor. Journal: Journal of clinical ultrasound Issue: Volume 51:Issue 2(2023) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗