Sfoglia per Autore
Malattie rare a cavallo dell’innovazione: una sfida etica e scientifica
2018-01-01 Tommasini, A.; Magnolato, A.; Pastore, S.; Bruno, I.
Teaching pain recognition through art: The Ramsay-Caravaggio sedation scale
2018-01-01 Poropat, Federico; Cozzi, Giorgio; Magnolato, Andrea; Monasta, Lorenzo; Borrometi, Fabio; Krauss, Baruch; Ventura, Alessandro; Barbi, Egidio
When Long-Lasting Food Selectivity Leads to an Unusual Genetic Diagnosis: A Case Report
2019-01-01 Da Lozzo, Prisca; Magnolato, Andrea; Del Rizzo, Irene; Sirchia, Fabio; Bruno, Irene; Barbi, Egidio
Dental anomalies as a possible clue of 1p36 deletion syndrome due to germline mosaicism: A case report
2020-01-01 Nistico, D.; Guidolin, F.; Navarra, C. O.; Bobbo, M.; Magnolato, A.; D'Adamo, A. P.; Giorgio, E.; Pivetta, B.; Barbi, E.; Gasparini, P.; Cadenaro, M.; Sirchia, F.
Beneficial effect of gabapentin in two children with Noonan syndrome and early-onset neuropathic pain
2020-01-01 Cortellazzo Wiel, L.; De Nardi, L.; Magnolato, A.; Sirchia, F.; Bruno, I.; Barbi, E.
Twin girls with hypophosphataemic rickets and papilloedema
2020-01-01 Migliarino, V.; Magnolato, A.; Barbi, E.
Epiphyseal Cleft: A Misleading Radiologic Finding
2020-01-01 Trevisan, M.; Elefante, P.; Cattaruzzi, E.; Rozzo, M.; Carbone, M.; Barbi, E.; Magnolato, A.
Selumetinib in the Treatment of Symptomatic Intractable Plexiform Neurofibromas in Neurofibromatosis Type 1: A Prospective Case Series with Emphasis on Side Effects
2020-01-01 Baldo, F.; Grasso, A. G.; Cortellazzo Wiel, L.; Maestro, A.; Trojniak, M. P.; Murru, F. M.; Basso, L.; Magnolato, A.; Bruno, I.; Barbi, E.
A Child With Self-Improving Hypotonia: Look at the Skin!
2020-01-01 Conversano, Ester; Agrusti, Anna; Conti, Rosaura; Magnolato, Andrea; Bruno, Irene; Colombi, Marina; Barbi, Egidio; Faletra, Flavio
Child with a non-painful red scrotum
2021-01-01 Pascolo, P.; Magnolato, A.; Calligaris, L.; Sanabor, D.; Barbi, E.; Cozzi, G.
Juvenile xanthogranuloma: A possible diagnostic criterion for Neurofibromatosis type 1 in young children
2021-01-01 Calligaris, Lorenzo; Cortellazzo Wiel, Luisa; Sartor, Emma; Berti, Irene; Bruno, Irene; Barbi, Egidio; Magnolato, Andrea
Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies
2021-01-01 Valencic, Erica; Da Lozzo, Prisca; Tornese, Gianluca; Ghirigato, Elena; Facca, Francesco; Piscianz, Elisa; Faletra, Flavio; Taddio, Andrea; Tommasini, Alberto; Magnolato, Andrea
Selumetinib side effects in children treated for plexiform neurofibromas: first case reports of peripheral edema and hair color change
2021-01-01 Baldo, F.; Magnolato, A.; Barbi, E.; Bruno, I.
Ulnar Pseudarthrosis in a Child with Type 1 Neurofibromatosis
2021-01-01 Occhipinti, Alessandro Agostino; Da Lozzo, Prisca; Favaretto, Elena; Magnolato, Andrea; Bruno, Irene; Barbi, Egidio
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
2022-01-01 Musante, Luciana; Faletra, Flavio; Meier, Kolja; Tomoum, Hoda; Najarzadeh Torbati, Paria; Blair, Edward; North, Sally; Gärtner, Jutta; Diegmann, Susann; Beiraghi Toosi, Mehran; Ashrafzadeh, Farah; Ghayoor Karimiani, Ehsan; Murphy, David; Murru, Flora Maria; Zanus, Caterina; Magnolato, Andrea; La Bianca, Martina; Feresin, Agnese; Girotto, Giorgia; Gasparini, Paolo; Costa, Paola; Carrozzi, Marco
Elevated creatine kinase is mainly harmless in children but persistent and severe hyperCKaemia should raise suspicions of serious muscle damage
2023-01-01 Burlo, Francesca; Grigoletto, Veronica; Pastore, Serena; Vaivoda, Anna; Trombetta, Andrea; Tamaro, Gianluca; Magnolato, Andrea; Tommasini, Alberto; Taddio, Andrea
Characterization of Cardiac Function by Echocardiographic Global Longitudinal Strain in a Cohort of Children with Neurofibromatosis Type 1 Treated with Selumetinib
2023-01-01 Caiffa, Thomas; Tessitore, Antimo; Magnolato, Andrea; Petz, Matilde; Bobbo, Marco; Chicco, Daniela; D'Agata Mottolese, Biancamaria; Porcari, Aldostefano; Barbi, Egidio; Sinagra, Gianfranco; Bruno, Irene
Medicina di precisione nelle malattie rare: il caso della Neurofibromatosi di tipo 1. Analisi di dati clinici e trascrittomica
2024-03-21 Magnolato, Andrea
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