1. A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1. (12th November 2015) Authors: Esposito, Teresa; Piluso, Giulio; Saracino, Dario; Uccello, Rossella; Schettino, Carla; Dato, Clemente; Capaldo, Guglielmo; Giugliano, Teresa; Varriale, Bruno; Paolisso, Giuseppe; Di Iorio, Giuseppe; Melone, Mariarosa A. B. Journal: Journal of neurochemistry Issue: Volume 135:Number 6(2015:Dec.) Page Start: 1123 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects. (November 2017) Authors: Terrone, Gaetano; Vitiello, Giuseppina; Genesio, Rita; D'Amico, Alessandra; Imperati, Floriana; Ugga, Lorenzo; Giugliano, Teresa; Piluso, Giulio; Nitsch, Lucio; Brunetti-Pierri, Nicola; Del Giudice, Ennio Journal: European journal of paediatric neurology Issue: Volume 21:Number 6(2017:Nov.) Page Start: 902 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Assessment of de novo copy-number variations in Italian patients with schizophrenia: Detection of putative mutations involving regulatory enhancer elements. (7th February 2019) Authors: Piluso, Giulio; Monteleone, Palmiero; Galderisi, Silvana; Giugliano, Teresa; Bertolino, Alessandro; Rocca, Paola; Rossi, Alessandro; Mucci, Armida; Aguglia, Eugenio; Andriola, Ileana; Bellomo, Antonello; Comparelli, Anna; Gambi, Francesco; Fagiolini, Andrea; Marchesi, Carlo; Roncone, Rita; Sacche... Journal: World journal of biological psychiatry Issue: Volume 20:Number 2(2019) Page Start: 126 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. From Gardner fibroma diagnosis to constitutional APC mutation detection: a one‐way street. Issue 10 (10th August 2017) Authors: Santoro, Claudia; Giugliano, Teresa; Bifano, Delfina; D'Anna, Carolina; D'Onofrio, Vittoria; Perrotta, Silverio Journal: Clinical case reports Issue: Volume 5:Issue 10(2017) Page Start: 1557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Moyamoya syndrome in children with neurofibromatosis type 1: Italian–French experience. Issue 6 (19th April 2017) Authors: Santoro, Claudia; Di Rocco, Federico; Kossorotoff, Manoelle; Zerah, Michel; Boddaert, Nathalie; Calmon, Raphael; Vidaud, Dominique; Cirillo, Mario; Cinalli, Giuseppe; Mirone, Giuseppe; Giugliano, Teresa; Piluso, Giulio; D'Amico, Alessandra; Capra, Valeria; Pavanello, Marco; Cama, Armando; Nobili,... Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1521 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. (5th July 2016) Authors: Savarese, Marco; Di Fruscio, Giuseppina; Torella, Annalaura; Fiorillo, Chiara; Magri, Francesca; Fanin, Marina; Ruggiero, Lucia; Ricci, Giulia; Astrea, Guja; Passamano, Luigia; Ruggieri, Alessandra; Ronchi, Dario; Tasca, Giorgio; D'Amico, Adele; Janssens, Sandra; Farina, Olimpia; Mutarelli, Margh... Journal: Neurology Issue: Volume 87:Number 1(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism. Issue 3 (28th December 2017) Authors: Giugliano, Teresa; Santoro, Claudia; Torella, Annalaura; Del Vecchio Blanco, Francesca; Bernardo, Pia; Nigro, Vincenzo; Piluso, Giulio Journal: American journal of medical genetics Issue: Volume 176:Issue 3(2018) Page Start: 722 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗