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Dandy-Walker malformation and Wisconsin syndrome: novel cases add further insight into the genotype-phenotype correlations of 3q23q25 deletions.
Ferraris A, Bernardini L, Sabolic Avramovska V, Zanni G, Loddo S, Sukarova-Angelovska E, Parisi V, Capalbo A, Tumini S, Travaglini L, Mancini F, Duma F, Barresi S, Novelli A, Mercuri E, Tarani L; Italian CBCD Study Group; Bertini E, Dallapiccola B, Valente EM. Ferraris A, et al. Orphanet J Rare Dis. 2013 May 16;8:75. doi: 10.1186/1750-1172-8-75. Orphanet J Rare Dis. 2013. PMID: 23679990 Free PMC article.
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
Zanni G, Barresi S, Travaglini L, Bernardini L, Rizza T, Digilio MC, Mercuri E, Cianfarani S, Valeriani M, Ferraris A, Da Sacco L, Novelli A, Valente EM, Dallapiccola B, Bertini ES. Zanni G, et al. Among authors: ferraris a. Neurogenetics. 2011 Aug;12(3):241-5. doi: 10.1007/s10048-011-0283-8. Epub 2011 Apr 12. Neurogenetics. 2011. PMID: 21484435
Pontine Tegmental Cap Dysplasia: developmental and cognitive outcome in three adolescent patients.
Briguglio M, Pinelli L, Giordano L, Ferraris A, Germanò E, Micheletti S, Severino M, Bernardini L, Loddo S, Tortorella G, Ormitti F, Gasparotti R; CBCD Study Group; Rossi A, Valente EM. Briguglio M, et al. Among authors: ferraris a. Orphanet J Rare Dis. 2011 Jun 8;6:36. doi: 10.1186/1750-1172-6-36. Orphanet J Rare Dis. 2011. PMID: 21651769 Free PMC article.
Genetic testing for paediatric neurological disorders.
Valente EM, Ferraris A, Dallapiccola B. Valente EM, et al. Among authors: ferraris a. Lancet Neurol. 2008 Dec;7(12):1113-26. doi: 10.1016/S1474-4422(08)70257-6. Lancet Neurol. 2008. PMID: 19007736 Review.
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R. Romaniello R, et al. Among authors: ferraris a. Eur Radiol. 2017 Dec;27(12):5080-5092. doi: 10.1007/s00330-017-4945-2. Epub 2017 Jul 4. Eur Radiol. 2017. PMID: 28677066
Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
Romaniello R, Arrigoni F, Panzeri E, Poretti A, Micalizzi A, Citterio A, Bedeschi MF, Berardinelli A, Cusmai R, D'Arrigo S, Ferraris A, Hackenberg A, Kuechler A, Mancardi M, Nuovo S, Oehl-Jaschkowitz B, Rossi A, Signorini S, Tüttelmann F, Wahl D, Hehr U, Boltshauser E, Bassi MT, Valente EM, Borgatti R. Romaniello R, et al. Among authors: ferraris a. Eur Radiol. 2017 Dec;27(12):5093. doi: 10.1007/s00330-017-4986-6. Eur Radiol. 2017. PMID: 28900662 No abstract available.
Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.
Niceta M, Margiotti K, Digilio MC, Guida V, Bruselles A, Pizzi S, Ferraris A, Memo L, Laforgia N, Dentici ML, Consoli F, Torrente I, Ruiz-Perez VL, Dallapiccola B, Marino B, De Luca A, Tartaglia M. Niceta M, et al. Among authors: ferraris a. Clin Genet. 2018 Mar;93(3):632-639. doi: 10.1111/cge.13128. Epub 2018 Jan 24. Clin Genet. 2018. PMID: 28857138
Olfactory dysfunction in Parkinsonism caused by PINK1 mutations.
Ferraris A, Ialongo T, Passali GC, Pellecchia MT, Brusa L, Laruffa M, Guidubaldi A, Paludetti G, Albanese A, Barone P, Dallapiccola B, Valente EM, Bentivoglio AR. Ferraris A, et al. Mov Disord. 2009 Dec 15;24(16):2350-7. doi: 10.1002/mds.22816. Mov Disord. 2009. PMID: 19890973
272 results