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Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.
Romano F, Falco M, Cappuccio G, Brunetti-Pierri N, Lonardo F, Torella A, Digilio MC, Dentici ML, Alfieri P, Agolini E, Novelli A, Garavelli L, Accogli A; TUDP; Striano P, Scarano G, Nigro V, Scala M, Capra V. Romano F, et al. Among authors: alfieri p. Birth Defects Res. 2022 Aug 1;114(13):759-767. doi: 10.1002/bdr2.2058. Epub 2022 Jun 18. Birth Defects Res. 2022. PMID: 35716097 Free PMC article. Review.
Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.
Lo-Castro A, Brancati F, Digilio MC, Garaci FG, Bollero P, Alfieri P, Curatolo P. Lo-Castro A, et al. Among authors: alfieri p. Am J Med Genet B Neuropsychiatr Genet. 2013 Jan;162B(1):17-23. doi: 10.1002/ajmg.b.32113. Epub 2012 Nov 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23184435
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. 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. 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
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: alfieri p. 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
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.
Lepri FR, Cocciadiferro D, Augello B, Alfieri P, Pes V, Vancini A, Caciolo C, Squeo GM, Malerba N, Adipietro I, Novelli A, Sotgiu S, Gherardi R, Digilio MC, Dallapiccola B, Merla G. Lepri FR, et al. Among authors: alfieri p. Int J Mol Sci. 2017 Dec 28;19(1):82. doi: 10.3390/ijms19010082. Int J Mol Sci. 2017. PMID: 29283410 Free PMC article.
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: alfieri p. 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.
106 results