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Myoclonic epilepsy, parkinsonism, schizophrenia and left-handedness as common neuropsychiatric features in 22q11.2 deletion syndrome.
Fanella M, Frascarelli M, Lambiase C, Morano A, Unolt M, Liberati N, Fattouch J, Buzzanca A, Accinni T, Ceccanti M, Viganò A, Biondi M, Colonnese C, Giallonardo AT, Di Fabio F, Pizzuti A, Di Bonaventura C, Berardelli A. Fanella M, et al. Among authors: pizzuti a. J Med Genet. 2020 Mar;57(3):151-159. doi: 10.1136/jmedgenet-2019-106223. Epub 2019 Sep 10. J Med Genet. 2020. PMID: 31506323
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.
Brancati F, Valente EM, Davies NP, Sarkozy A, Sweeney MG, LoMonaco M, Pizzuti A, Hanna MG, Dallapiccola B. Brancati F, et al. Among authors: pizzuti a. J Neurol Neurosurg Psychiatry. 2003 Sep;74(9):1339-41. doi: 10.1136/jnnp.74.9.1339. J Neurol Neurosurg Psychiatry. 2003. PMID: 12933953 Free PMC article.
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.
Brancati F, Valente EM, Sarkozy A, Fehèr J, Castori M, Del Duca P, Mingarelli R, Pizzuti A, Dallapiccola B. Brancati F, et al. Among authors: pizzuti a. J Med Genet. 2004 Mar;41(3):188-92. doi: 10.1136/jmg.2003.012872. J Med Genet. 2004. PMID: 14985379 Free PMC article. No abstract available.
290 results