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CGH Findings in Children with Complex and Essential Autistic Spectrum Disorder.
Annunziata S, Bulgheroni S, D'Arrigo S, Esposito S, Taddei M, Saletti V, Alfei E, Sciacca FL, Rizzo A, Pantaleoni C, Riva D. Annunziata S, et al. Among authors: alfei e. J Autism Dev Disord. 2023 Feb;53(2):615-623. doi: 10.1007/s10803-020-04833-5. Epub 2021 Jan 4. J Autism Dev Disord. 2023. PMID: 33394245
PDCD10 gene mutations in multiple cerebral cavernous malformations.
Cigoli MS, Avemaria F, De Benedetti S, Gesu GP, Accorsi LG, Parmigiani S, Corona MF, Capra V, Mosca A, Giovannini S, Notturno F, Ciccocioppo F, Volpi L, Estienne M, De Michele G, Antenora A, Bilo L, Tavoni A, Zamponi N, Alfei E, Baranello G, Riva D, Penco S. Cigoli MS, et al. Among authors: alfei e. PLoS One. 2014 Oct 29;9(10):e110438. doi: 10.1371/journal.pone.0110438. eCollection 2014. PLoS One. 2014. PMID: 25354366 Free PMC article.
ZC4H2 deletions can cause severe phenotype in female carriers.
Zanzottera C, Milani D, Alfei E, Rizzo A, D'Arrigo S, Esposito S, Pantaleoni C. Zanzottera C, et al. Among authors: alfei e. Am J Med Genet A. 2017 May;173(5):1358-1363. doi: 10.1002/ajmg.a.38155. Epub 2017 Mar 27. Am J Med Genet A. 2017. PMID: 28345801
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.
Alcantara D, Timms AE, Gripp K, Baker L, Park K, Collins S, Cheng C, Stewart F, Mehta SG, Saggar A, Sztriha L, Zombor M, Caluseriu O, Mesterman R, Van Allen MI, Jacquinet A, Ygberg S, Bernstein JA, Wenger AM, Guturu H, Bejerano G, Gomez-Ospina N, Lehman A, Alfei E, Pantaleoni C, Conti V, Guerrini R, Moog U, Graham JM Jr, Hevner R, Dobyns WB, O'Driscoll M, Mirzaa GM. Alcantara D, et al. Among authors: alfei e. Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203. Brain. 2017. PMID: 28969385 Free PMC article.
34 results