1. A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism. Issue 10 (7th August 2019) Authors: Diquigiovanni, Chiara; Bergamini, Christian; Diaz, Rebeca; Liparulo, Irene; Bianco, Francesca; Masin, Luca; Baldassarro, Vito Antonio; Rizzardi, Nicola; Tranchina, Antonia; Buscherini, Francesco; Wischmeijer, Anita; Pippucci, Tommaso; Scarano, Emanuela; Cordelli, Duccio Maria; Fato, Romana; Seri,... Journal: FASEB journal Issue: Volume 33:Issue 10(2019) Page Start: 11284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adult phenotype in Koolen-de Vries/KANSL1 haploinsufficiency syndrome. Issue 2 (24th December 2020) Authors: Amenta, Simona; Frangella, Silvia; Marangi, Giuseppe; Lattante, Serena; Ricciardi, Stefania; Doronzio, Paolo Niccolò; Orteschi, Daniela; Veredice, Chiara; Contaldo, Ilaria; Zampino, Giuseppe; Gentile, Mattia; Scarano, Emanuela; Graziano, Claudio; Zollino, Marcella Journal: Journal of medical genetics Issue: Volume 59:Issue 2(2022) Page Start: 189 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Altered modulation of lamin A/C‐HDAC2 interaction and p21 expression during oxidative stress response in HGPS. Issue 5 (15th August 2018) Authors: Mattioli, Elisabetta; Andrenacci, Davide; Garofalo, Cecilia; Prencipe, Sabino; Scotlandi, Katia; Remondini, Daniel; Gentilini, Davide; Di Blasio, Anna Maria; Valente, Sergio; Scarano, Emanuela; Cicchilitti, Lucia; Piaggio, Giulia; Mai, Antonello; Lattanzi, Giovanna Journal: Aging cell Issue: Volume 17:Issue 5(2018) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Anthropometric characteristics of newborns with Prader–Willi syndrome. Issue 10 (30th July 2019) Authors: Salvatoni, Alessandro; Moretti, Alex; Grugni, Graziano; Agosti, Massimo; Azzolini, Sara; Bonaita, Valentina; Cianci, Paola; Corica, Domenico; Crinò, Antonino; Delvecchio, Maurizio; Ferraris, Silvio; Greggio, Nella A.; Iughetti, Lorenzo; Licenziati, Maria R.; Madeo, Simona F.; Nosetti, Luana; Pajn... Journal: American journal of medical genetics Issue: Volume 179:Issue 10(2019) Page Start: 2067 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non‐oncologic disorders. Issue 2 (4th January 2021) Authors: Botto, Lorenzo D.; Meeths, Marie; Campos‐Xavier, Belinda; Bergamaschi, Rosalba; Mazzanti, Laura; Scarano, Emanuela; Finocchi, Andrea; Cancrini, Caterina; Zirn, Birgit; Kühnle, Ingrid; Kramm, Christof Maria; Alanay, Yasemin; Jones, Wendy D.; Irving, Melita; Sabir, Ataf; Henter, Jan‐Inge; Borgström... Journal: American journal of medical genetics Issue: Volume 185:Issue 2(2021) Page Start: 517 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Endocrinological manifestations in RASopathies. Issue 4 (19th November 2022) Authors: Tamburrino, Federica; Scarano, Emanuela; Schiavariello, Concetta; Perri, Annamaria; Pession, Andrea; Mazzanti, Laura Other Names: Leoni Chiara guestEditor.; Neri Giovanni guestEditor. Journal: American journal of medical genetics Issue: Volume 190:Issue 4(2022) Page Start: 471 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. From Whole Gene Deletion to Point Mutations of EP300‐Positive Rubinstein–Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks. Issue 2 (4th November 2015) Authors: Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano, Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina Journal: Human mutation Issue: Volume 37:Issue 2(2016) Page Start: 175 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. GH Therapy and first final height data in Noonan‐like syndrome with loose anagen hair (Mazzanti syndrome). Issue 11 (3rd October 2013) Authors: Mazzanti, Laura; Tamburrino, Federica; Scarano, Emanuela; Perri, Annamaria; Vestrucci, Benedetta; Guidetti, Monica; Rossi, Cesare; Tartaglia, Marco Journal: American journal of medical genetics Issue: Volume 161:Issue 11(2013:Nov.) Page Start: 2756 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. New clinical features in an adult patient with Skraban‐Deardorff syndrome. Issue 1 (21st October 2022) Authors: Innella, Giovanni; Scarano, Emanuela; Palumbo, Pietro; Carella, Massimo; Severi, Giulia Journal: American journal of medical genetics Issue: Volume 191:Issue 1(2023) Page Start: 306 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Response to long‐term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data. (31st July 2015) Authors: Tamburrino, Federica; Gibertoni, Dino; Rossi, Cesare; Scarano, Emanuela; Perri, Annamaria; Montanari, Francesca; Fantini, Maria Pia; Pession, Andrea; Tartaglia, Marco; Mazzanti, Laura Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2786 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗