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PTCHD1 gene mutation/deletion: the cognitive-behavioral phenotyping of four case reports.
Montanaro FAM, Mandarino A, Alesi V, Schwartz C, Sepulveda DJC, Skinner C, Friez M, Piccolo G, Novelli A, Zanni G, Dentici ML, Vicari S, Alfieri P. Montanaro FAM, et al. Among authors: vicari s. Front Psychiatry. 2024 Jan 15;14:1327802. doi: 10.3389/fpsyt.2023.1327802. eCollection 2023. Front Psychiatry. 2024. PMID: 38288059 Free PMC article.
X-linked congenital ataxia: a clinical and genetic study.
Bertini E, des Portes V, Zanni G, Santorelli F, Dionisi-Vici C, Vicari S, Fariello G, Chelly J. Bertini E, et al. Among authors: vicari s. Am J Med Genet. 2000 May 1;92(1):53-6. Am J Med Genet. 2000. PMID: 10797423
Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.
Alfieri P, Cesarini L, De Rose P, Ricci D, Selicorni A, Menghini D, Guzzetta A, Baranello G, Tinelli F, Mallardi M, Zampino G, Vicari S, Atkinson J, Mercuri E. Alfieri P, et al. Among authors: vicari s. Am J Med Genet A. 2011 Oct;155A(10):2459-64. doi: 10.1002/ajmg.a.34229. Epub 2011 Sep 9. Am J Med Genet A. 2011. PMID: 21910245
Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation.
Pane M, Lombardo ME, Alfieri P, D'Amico A, Bianco F, Vasco G, Piccini G, Mallardi M, Romeo DM, Ricotti V, Ferlini A, Gualandi F, Vicari S, Bertini E, Berardinelli A, Mercuri E. Pane M, et al. Among authors: vicari s. J Pediatr. 2012 Oct;161(4):705-9.e1. doi: 10.1016/j.jpeds.2012.03.020. Epub 2012 May 5. J Pediatr. 2012. PMID: 22560791
Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits.
Fusco C, Micale L, Augello B, Teresa Pellico M, Menghini D, Alfieri P, Cristina Digilio M, Mandriani B, Carella M, Palumbo O, Vicari S, Merla G. Fusco C, et al. Among authors: vicari s. Eur J Hum Genet. 2014 Jan;22(1):64-70. doi: 10.1038/ejhg.2013.101. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756441 Free PMC article.
Behavioral profile in RASopathies.
Alfieri P, Piccini G, Caciolo C, Perrino F, Gambardella ML, Mallardi M, Cesarini L, Leoni C, Leone D, Fossati C, Selicorni A, Digilio MC, Tartaglia M, Mercuri E, Zampino G, Vicari S. Alfieri P, et al. Among authors: vicari s. Am J Med Genet A. 2014 Apr;164A(4):934-42. doi: 10.1002/ajmg.a.36374. Epub 2014 Jan 23. Am J Med Genet A. 2014. PMID: 24458522
Behavioral phenotype in Costello syndrome with atypical mutation: a case report.
Alfieri P, Caciolo C, Piccini G, D'Elia L, Valeri G, Menghini D, Tartaglia M, Digilio MC, Dallapiccola B, Vicari S. Alfieri P, et al. Among authors: vicari s. Am J Med Genet B Neuropsychiatr Genet. 2015 Jan;168B(1):66-71. doi: 10.1002/ajmg.b.32279. Epub 2014 Nov 4. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 25367099
415 results