1. A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment. Issue 5 (21st April 2018) Authors: Alessandrella, Annalisa; Della Casa, Roberto; Alessio, Maria; Puente Prieto, Jorge; Strisciuglio, Pietro; Melis, Daniela Journal: American journal of medical genetics Issue: Volume 176:Issue 5(2018) Page Start: 1253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome. (15th May 2020) Authors: Monda, Emanuele; Fusco, Adelaide; Melis, Daniela; Caiazza, Martina; Gragnano, Felice; Mauriello, Alfredo; Cirillo, Annapaola; Rubino, Marta; Esposito, Augusto; Grammegna, Angelina; Nistri, Stefano; Pepe, Guglielmina; Calabrò, Paolo; Strisciuglio, Pietro; Della Corte, Alessandro; Oppido, Guido; Ru... Journal: Cardiology in the young Issue: Volume 30:Number 5(2020) Page Start: 663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings. Issue 5 (17th August 2021) Authors: D'Amico, Alessandra; Rosano, Carmen; Pannone, Luca; Pinna, Valentina; Assunto, Antonia; Motta, Marialetizia; Ugga, Lorenzo; Daniele, Paola; Mandile, Roberta; Mariniello, Lucio; Siano, Maria Anna; Santoro, Claudia; Piluso, Giulio; Martinelli, Simone; Strisciuglio, Pietro; De Luca, Alessandro; Tart... Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome. Issue 10 (2nd October 2007) Authors: Concolino, Daniela; Rossi, Elena; Strisciuglio, Pietro; Iembo, Maria Antonietta; Giorda, Roberto; Ciccone, Roberto; Tenconi, Romano; Zuffardi, Orsetta Journal: Journal of medical genetics Issue: Volume 44:Issue 10(2007) Page Start: 647 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Dietary lipids in glycogen storage disease type III: A systematic literature study, case studies, and future recommendations. Issue 4 (26th February 2020) Authors: Rossi, Alessandro; Hoogeveen, Irene J.; Bastek, Vanessa B.; de Boer, Foekje; Montanari, Chiara; Meyer, Uta; Maiorana, Arianna; Bordugo, Andrea; Dianin, Alice; Campana, Carmen; Rigoldi, Miriam; Kishnani, Priya S.; Pendyal, Surekha; Strisciuglio, Pietro; Gasperini, Serena; Parenti, Giancarlo; Parin... Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 4(2020) Page Start: 770 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Insulin‐resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?. Issue 6 (12th February 2018) Authors: Rossi, Alessandro; Ruoppolo, Margherita; Formisano, Pietro; Villani, Guglielmo; Albano, Lucia; Gallo, Giovanna; Crisci, Daniela; Moccia, Augusta; Parenti, Giancarlo; Strisciuglio, Pietro; Melis, Daniela Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 6(2018) Page Start: 985 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two‐dimensional speckle tracking echocardiography study. Issue 2 (10th January 2017) Authors: Borgia, Francesco; Pezzullo, Enrica; Schiano Lomoriello, Vincenzo; Sorrentino, Regina; Lo Iudice, Francesco; Cocozza, Sara; Della Casa, Roberto; Parenti, Giancarlo; Strisciuglio, Pietro; Trimarco, Bruno; Galderisi, Maurizio Journal: Echocardiography Issue: Volume 34:Issue 2(2017) Page Start: 240 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novelty in hypertension in children and adolescents: focus on hypertension during the first year of life, use and interpretation of ambulatory blood pressure monitoring, role of physical activity in prevention and treatment, simple carbohydrates and uric acid as risk factors. Issue 1 (December 2016) Authors: Strambi, Mirella; Giussani, Marco; Ambruzzi, Maria; Brambilla, Paolo; Corrado, Ciro; Giordano, Ugo; Maffeis, Claudio; Maringhin, Silvio; Matteucci, Maria; Menghetti, Ettore; Salice, Patrizia; Schena, Federico; Strisciuglio, Pietro; Valerio, Giuliana; Viazzi, Francesca; Virdis, Raffaele; Genovesi,... Journal: Italian journal of pediatrics Issue: Volume 42:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders. (17th October 2018) Authors: Cappuccio, Gerarda; Bernardo, Pia; Raiano, Enza; Pinelli, Michele; Alagia, Marianna; Esposito, Marcello; Della Casa, Roberto; Strisciuglio, Pietro; Brunetti‐Pierri, Nicola; Bravaccio, Carmela Journal: Acta pædiatrica Issue: Volume 108:Number 1(2019) Page Start: 171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Primrose syndrome: Characterization of the phenotype in 42 patients. Issue 6 (20th April 2020) Authors: Melis, Daniela; Carvalho, Daniel; Barbaro‐Dieber, Tina; Espay, Alberto J.; Gambello, Michael J.; Gener, Blanca; Gerkes, Erica; Hitzert, Marrit M.; Hove, Hanne B.; Jansen, Sandra; Jira, Petr E.; Lachlan, Katherine; Menke, Leonie A.; Narayanan, Vinodh; Ortiz, Damara; Overwater, Eline; Posmyk, Renat... Journal: Clinical genetics Issue: Volume 97:Issue 6(2020) Page Start: 890 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗