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A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.
Restaldi F, Alesi V, Aquilani A, Genovese S, Russo S, Coletti V, Pompili D, Falasca R, Dallapiccola B, Capolino R, Luciani M, Novelli A. Restaldi F, et al. Among authors: russo s. Mol Cytogenet. 2019 Jun 14;12:26. doi: 10.1186/s13039-019-0440-6. eCollection 2019. Mol Cytogenet. 2019. PMID: 31223340 Free PMC article.
Hypoplastic left heart syndrome and 21q22.3 deletion.
Ciocca L, Digilio MC, Lombardo A, D'Elia G, Baban A, Capolino R, Petrocchi S, Russo S, Sirleto P, Roberti MC, Marino B, Angioni A, Dallapiccola B. Ciocca L, et al. Among authors: russo s. Am J Med Genet A. 2015 Mar;167A(3):579-86. doi: 10.1002/ajmg.a.36914. Epub 2015 Feb 7. Am J Med Genet A. 2015. PMID: 25663264 Review.
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.
Lombardo A, Sinibaldi L, Genovese S, Catino G, Mei V, Pompili D, Sallicandro E, Falasca R, Liambo MT, Faggiano MV, Roberti MC, Di Donato M, Vitelli A, Russo S, Giannini R, Micalizzi A, Pietrafusa N, Digilio MC, Novelli A, Fusco L, Alesi V. Lombardo A, et al. Among authors: russo s. Int J Mol Sci. 2024 Jun 24;25(13):6912. doi: 10.3390/ijms25136912. Int J Mol Sci. 2024. PMID: 39000022 Free PMC article.
Telomere shortening and telomere position effect in mild ring 17 syndrome.
Surace C, Berardinelli F, Masotti A, Roberti MC, Da Sacco L, D'Elia G, Sirleto P, Digilio MC, Cusmai R, Grotta S, Petrocchi S, Hachem ME, Pisaneschi E, Ciocca L, Russo S, Lepri FR, Sgura A, Angioni A. Surace C, et al. Among authors: russo s. Epigenetics Chromatin. 2014 Jan 7;7(1):1. doi: 10.1186/1756-8935-7-1. Epigenetics Chromatin. 2014. PMID: 24393457 Free PMC article.
The Italian guideline on diagnosis and treatment of dementia and mild cognitive impairment.
Fabrizi E, Ancidoni A, Locuratolo N, Piscopo P, Della Gatta F, Salemme S, Pani SM, Marconi D, Vignatelli L, Sagliocca L, Caffarra P, Secreto P, Guaita A, Stracciari A, Vanacore N, Lacorte E; Guideline Working Group. Fabrizi E, et al. Age Ageing. 2024 Nov 1;53(11):afae250. doi: 10.1093/ageing/afae250. Age Ageing. 2024. PMID: 39544104 Free PMC article.
1,765 results