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Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Orsini A, Santangelo A, Bravin F, Bonuccelli A, Peroni D, Battini R, Foiadelli T, Bertini V, Valetto A, Iacomino M, Nigro V, Torella AL, Scala M, Capra V, Vari MS, Fetta A, Di Pisa V, Montanari F, Epifanio R, Bonanni P, Giorda R, Operto F, Pastorino G, Sarigecili E, Sardaroglu E, Okuyaz C, Bozdogan S, Musante L, Faletra F, Zanus C, Ferretti A, Vigevano F, Striano P, Cordelli DM. Orsini A, et al. Genes (Basel). 2022 Jan 30;13(2):276. doi: 10.3390/genes13020276. Genes (Basel). 2022. PMID: 35205321 Free PMC article.
Unilateral Lisch nodules in a pediatric patient: a sign for genetic mosaicism?
Orsini A, Santangelo A, Bonuccelli A, Ragone MC, Foiadelli T, Savasta S, Madia F, Peroni D, Striano P. Orsini A, et al. Minerva Pediatr (Torino). 2023 Feb;75(1):137-139. doi: 10.23736/S2724-5276.20.06134-4. Epub 2020 Nov 17. Minerva Pediatr (Torino). 2023. PMID: 33203204 No abstract available.
Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
Valetto A, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G. Valetto A, et al. Among authors: orsini a. Eur J Med Genet. 2012 May;55(5):362-6. doi: 10.1016/j.ejmg.2012.03.011. Epub 2012 Apr 24. Eur J Med Genet. 2012. PMID: 22548977
The Clinical Impact of Methotrexate-Induced Stroke-Like Neurotoxicity in Paediatric Departments: An Italian Multi-Centre Case-Series.
Santangelo A, Bartolini E, Nuzzi G, Foiadelli T, Michev A, Mina T, Trambusti I, Fichera V, Bonuccelli A, Massimetti G, Peroni DG, De Marco E, Coccoli L, Luti L, Bernasconi S, Nardi M, Menconi MC, Casazza G, Pruna D, Mura R, Marra C, Zama D, Striano P, Cordelli DM, Battini R, Orsini A. Santangelo A, et al. Among authors: orsini a. Front Neurol. 2022 Jun 10;13:920214. doi: 10.3389/fneur.2022.920214. eCollection 2022. Front Neurol. 2022. PMID: 35756920 Free PMC article.
17q12 microduplications: a challenge for clinicians.
Bertini V, Orsini A, Bonuccelli A, Cambi F, Del Pistoia M, Vannozzi I, Toschi B, Saggese G, Simi P, Valetto A. Bertini V, et al. Among authors: orsini a. Am J Med Genet A. 2015 Mar;167A(3):674-6. doi: 10.1002/ajmg.a.36905. Am J Med Genet A. 2015. PMID: 25691423
507 results