1. A microarray analysis highlights the role of tetrapyrrole pathways in grapevine responses to "stolbur" phytoplasma, phloem virus infections and recovered status. (January 2016) Authors: Punelli, Federico; Al Hassan, Mohamad; Fileccia, Veronica; Uva, Paolo; Pasquini, Graziella; Martinelli, Federico Journal: Physiological and molecular plant pathology Issue: Volume 93(2016:Jan.) Page Start: 129 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. ADA2 deficiency due to a novel structural variation in 22q11.1. Issue 6 (28th March 2019) Authors: Grossi, Alice; Cusano, Roberto; Rusmini, Marta; Penco, Federica; Schena, Francesca; Podda, Rosa A.; Caorsi, Roberta; Gattorno, Marco; Uva, Paolo; Ceccherini, Isabella Journal: Clinical genetics Issue: Volume 95:Issue 6(2019) Page Start: 732 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. (21st May 2015) Authors: Palagano, Eleonora; Blair, Harry C; Pangrazio, Alessandra; Tourkova, Irina; Strina, Dario; Angius, Andrea; Cuccuru, Gianmauro; Oppo, Manuela; Uva, Paolo; Van Hul, Wim; Boudin, Eveline; Superti‐Furga, Andrea; Faletra, Flavio; Nocerino, Agostino; Ferrari, Matteo C; Grappiolo, Guido; Monari, Marta; ... Journal: Journal of bone and mineral research Issue: Volume 30:Number 10(2015:Oct.) Page Start: 1814 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis. (21st May 2015) Authors: Palagano, Eleonora; Blair, Harry C; Pangrazio, Alessandra; Tourkova, Irina; Strina, Dario; Angius, Andrea; Cuccuru, Gianmauro; Oppo, Manuela; Uva, Paolo; Van Hul, Wim; Boudin, Eveline; Superti‐Furga, Andrea; Faletra, Flavio; Nocerino, Agostino; Ferrari, Matteo C; Grappiolo, Guido; Monari, Marta; ... Journal: Journal of bone and mineral research Issue: Volume 30:Number 10(2015:Oct.) Page Start: 1814 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP. Issue 4 (8th February 2019) Authors: Angius, Andrea; Uva, Paolo; Oppo, Manuela; Persico, Ivana; Onano, Stefano; Olla, Stefania; Pes, Valentina; Perria, Chiara; Cuccuru, Gianmauro; Atzeni, Rossano; Serra, Gigliola; Cucca, Francesco; Sotgiu, Stefano; Hennekam, Raoul C.; Crisponi, Laura Journal: American journal of medical genetics Issue: Volume 179:Issue 4(2019) Page Start: 634 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. Issue 9 (8th June 2022) Authors: Scala, Marcello; Drouot, Nathalie; MacLennan, Suzanna C.; Wessels, Marja W.; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A.; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margher... Journal: Human mutation Issue: Volume 43:Issue 9(2022) Page Start: 1299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Endothelial cell adhesion to soluble vascular endothelial growth factor receptor‐1 triggers a cell dynamic and angiogenic phenotype. Issue 2 (30th October 2013) Authors: Orecchia, Angela; Mettouchi, Amel; Uva, Paolo; Simon, Glenn C.; Arcelli, Diego; Avitabile, Simona; Ragone, Gianluca; Meneguzzi, Guerrino; Pfenninger, Karl H.; Zambruno, Giovanna; Failla, Cristina Maria Journal: FASEB journal Issue: Volume 28:Issue 2(2014) Page Start: 692 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Issue 5 (28th March 2019) Authors: Angius, Andrea; Uva, Paolo; Oppo, Manuela; Buers, Insa; Persico, Ivana; Onano, Stefano; Cuccuru, Gianmauro; Van Allen, Margot I.; Hulait, Gurdip; Aubertin, Gudrun; Muntoni, Francesco; Fry, Andrew E.; Annerén, Göran; Stattin, Eva‐Lena; Palomares‐Bralo, María; Santos‐Simarro, Fernando; Cucca, Franc... Journal: Clinical genetics Issue: Volume 95:Issue 5(2019) Page Start: 607 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Gut microbiota and metabolome distinctive features in Parkinson disease: Focus on levodopa and levodopa‐carbidopa intrajejunal gel. (16th December 2020) Authors: Melis, Marta; Vascellari, Sarah; Santoru, Maria Laura; Oppo, Valentina; Fabbri, Margherita; Sarchioto, Marianna; Murgia, Daniela; Zibetti, Maurizio; Lopiano, Leonardo; Serra, Alessandra; Palmas, Vanessa; Pisanu, Silvia; Perra, Daniela; Madau, Veronica; Cusano, Roberto; Uva, Paolo; Mereu, Alessand... Journal: European journal of neurology Issue: Volume 28:Number 4(2021) Page Start: 1198 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity. (5th March 2014) Authors: Odorisio, Teresa; Di Salvio, Michela; Orecchia, Angela; Di Zenzo, Giovanni; Piccinni, Eugenia; Cianfarani, Francesca; Travaglione, Antonella; Uva, Paolo; Bellei, Barbara; Conti, Andrea; Zambruno, Giovanna; Castiglia, Daniele Journal: Human molecular genetics Issue: Volume 23:Number 15(2014:Aug. 01) Page Start: 3907 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗