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Page 1
A Data Fusion Approach to Enhance Association Study in Epilepsy.
Marini S, Limongelli I, Rizzo E, Malovini A, Errichiello E, Vetro A, Da T, Zuffardi O, Bellazzi R. Marini S, et al. Among authors: errichiello e. PLoS One. 2016 Dec 16;11(12):e0164940. doi: 10.1371/journal.pone.0164940. eCollection 2016. PLoS One. 2016. PMID: 27984588 Free PMC article.
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
Errichiello E, Vetro A, Mina T, Wischmeijer A, Berrino E, Carella M, Romagnoli M, Sacchini P, Venesio T, Zecca M, Zuffardi O. Errichiello E, et al. Blood Cells Mol Dis. 2017 May;64:38-44. doi: 10.1016/j.bcmd.2017.03.002. Epub 2017 Mar 6. Blood Cells Mol Dis. 2017. PMID: 28376382 Free PMC article.
Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
Kurtas N, Arrigoni F, Errichiello E, Zucca C, Maghini C, D'Angelo MG, Beri S, Giorda R, Bertuzzo S, Delledonne M, Xumerle L, Rossato M, Zuffardi O, Bonaglia MC. Kurtas N, et al. Among authors: errichiello e. J Med Genet. 2018 Apr;55(4):269-277. doi: 10.1136/jmedgenet-2017-105125. Epub 2018 Jan 29. J Med Genet. 2018. PMID: 29378768 Free PMC article.
Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.
Maini I, Ivanovski I, Djuric O, Caraffi SG, Errichiello E, Marinelli M, Franchi F, Bizzarri V, Rosato S, Pollazzon M, Gelmini C, Malacarne M, Fusco C, Gargano G, Bernasconi S, Zuffardi O, Garavelli L. Maini I, et al. Among authors: errichiello e. Ital J Pediatr. 2018 Mar 9;44(1):34. doi: 10.1186/s13052-018-0467-z. Ital J Pediatr. 2018. PMID: 29523172 Free PMC article.
De novo unbalanced translocations have a complex history/aetiology.
Bonaglia MC, Kurtas NE, Errichiello E, Bertuzzo S, Beri S, Mehrjouy MM, Provenzano A, Vergani D, Pecile V, Novara F, Reho P, Di Giacomo MC, Discepoli G, Giorda R, Aldred MA, Santos-Rebouças CB, Goncalves AP, Abuelo DN, Giglio S, Ricca I, Franchi F, Patsalis P, Sismani C, Morí MA, Nevado J, Tommerup N, Zuffardi O. Bonaglia MC, et al. Among authors: errichiello e. Hum Genet. 2018 Oct;137(10):817-829. doi: 10.1007/s00439-018-1941-9. Epub 2018 Oct 1. Hum Genet. 2018. PMID: 30276538 Clinical Trial.
45 results