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Page 1
Neurobehavioral features in individuals with Kabuki syndrome.
Caciolo C, Alfieri P, Piccini G, Digilio MC, Lepri FR, Tartaglia M, Menghini D, Vicari S. Caciolo C, et al. Among authors: piccini g. Mol Genet Genomic Med. 2018 May;6(3):322-331. doi: 10.1002/mgg3.348. Epub 2018 Mar 13. Mol Genet Genomic Med. 2018. PMID: 29536651 Free PMC article.
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
Zanni G, Kalscheuer VM, Friedrich A, Barresi S, Alfieri P, Di Capua M, Haas SA, Piccini G, Karl T, Klauck SM, Bellacchio E, Emma F, Cappa M, Bertini E, Breitenbach-Koller L. Zanni G, et al. Among authors: piccini g. Hum Mutat. 2015 Dec;36(12):1155-8. doi: 10.1002/humu.22860. Epub 2015 Sep 14. Hum Mutat. 2015. PMID: 26290468
Rho Kinase Inhibition Is Essential During In Vitro Neurogenesis and Promotes Phenotypic Rescue of Human Induced Pluripotent Stem Cell-Derived Neurons With Oligophrenin-1 Loss of Function.
Compagnucci C, Barresi S, Petrini S, Billuart P, Piccini G, Chiurazzi P, Alfieri P, Bertini E, Zanni G. Compagnucci C, et al. Among authors: piccini g. Stem Cells Transl Med. 2016 Jul;5(7):860-9. doi: 10.5966/sctm.2015-0303. Epub 2016 May 9. Stem Cells Transl Med. 2016. PMID: 27160703 Free PMC article.
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: piccini g. 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
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: piccini g. 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
Psychopathological features in Noonan syndrome.
Perrino F, Licchelli S, Serra G, Piccini G, Caciolo C, Pasqualetti P, Cirillo F, Leoni C, Digilio MC, Zampino G, Tartaglia M, Alfieri P, Vicari S. Perrino F, et al. Among authors: piccini g. Eur J Paediatr Neurol. 2018 Jan;22(1):170-177. doi: 10.1016/j.ejpn.2017.09.009. Epub 2017 Sep 28. Eur J Paediatr Neurol. 2018. PMID: 29037749
85 results