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Page 1
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Aspromonte MC, Del Conte A, Polli R, Baldo D, Benedicenti F, Bettella E, Bigoni S, Boni S, Ciaccio C, D'Arrigo S, Donati I, Granocchio E, Mammi I, Milani D, Negrin S, Nosadini M, Soli F, Stanzial F, Turolla L, Piovesan D, Tosatto SCE, Murgia A, Leonardi E. Aspromonte MC, et al. Among authors: milani d. Hum Genet. 2025 Mar;144(2-3):309-326. doi: 10.1007/s00439-025-02733-1. Epub 2025 Feb 28. Hum Genet. 2025. PMID: 40019509 Free PMC article.
Seizures and EEG features in 74 patients with genetic-dysmorphic syndromes.
Alfei E, Raviglione F, Franceschetti S, D'Arrigo S, Milani D, Selicorni A, Riva D, Zuffardi O, Pantaleoni C, Binelli S. Alfei E, et al. Among authors: milani d, d arrigo s. Am J Med Genet A. 2014 Dec;164A(12):3154-61. doi: 10.1002/ajmg.a.36746. Epub 2014 Sep 24. Am J Med Genet A. 2014. PMID: 25257908
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: milani d, d arrigo s. 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
Fragile X syndrome: a review of clinical and molecular diagnoses.
Ciaccio C, Fontana L, Milani D, Tabano S, Miozzo M, Esposito S. Ciaccio C, et al. Among authors: milani d. Ital J Pediatr. 2017 Apr 19;43(1):39. doi: 10.1186/s13052-017-0355-y. Ital J Pediatr. 2017. PMID: 28420439 Free PMC article. Review.
The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders.
Rizzo A, Alfei E, Zibordi F, Saletti V, Zorzi G, Freri E, Estienne M, Girgenti V, D'Arrigo S, Esposito S, Buldrini B, Moroni I, Milani D, Granata T, Ardissone A, Eoli M, Molteni B, Bigoni S, Pantaleoni C, Nardocci N, Sciacca FL. Rizzo A, et al. Among authors: milani d, d arrigo s. Am J Med Genet B Neuropsychiatr Genet. 2018 Sep;177(6):557-562. doi: 10.1002/ajmg.b.32649. Epub 2018 Aug 14. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 30105822
363 results