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18 results

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Page 1
RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.
Falco M, Amabile S, Acquaviva F. Falco M, et al. Among authors: amabile s. Appl Clin Genet. 2017 Nov 3;10:85-94. doi: 10.2147/TACG.S128455. eCollection 2017. Appl Clin Genet. 2017. PMID: 29138588 Free PMC article. Review.
Perinatal-lethal Gaucher disease presenting with blueberry muffin lesions.
Rosanio FM, D'Acunzo I, Mozzillo F, Di Pinto R, Tornincasa C, Amabile S, Piccirillo A, Roma V, Giordano L. Rosanio FM, et al. Among authors: amabile s. Pediatr Dermatol. 2021 Sep;38(5):1357-1358. doi: 10.1111/pde.14735. Epub 2021 Aug 2. Pediatr Dermatol. 2021. PMID: 34339539
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
D'Agostino Y, Palumbo D, Rusciano MR, Strianese O, Amabile S, Di Rosa D, De Angelis E, Visco V, Russo F, Alexandrova E, Salvati A, Giurato G, Nassa G, Tarallo R, Galasso G, Ciccarelli M, Weisz A, Rizzo F. D'Agostino Y, et al. Among authors: amabile s. Diagnostics (Basel). 2022 Oct 5;12(10):2411. doi: 10.3390/diagnostics12102411. Diagnostics (Basel). 2022. PMID: 36292100 Free PMC article.
Altered expression of neuropeptides in FoxG1-null heterozygous mutant mice.
Frullanti E, Amabile S, Lolli MG, Bartolini A, Livide G, Landucci E, Mari F, Vaccarino FM, Ariani F, Massimino L, Renieri A, Meloni I. Frullanti E, et al. Among authors: amabile s. Eur J Hum Genet. 2016 Feb;24(2):252-7. doi: 10.1038/ejhg.2015.79. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966633 Free PMC article.
Targeted molecular profiling of epithelial ovarian cancer from Italian BRCA wild-type patients with a BRCA and PARP pathways gene panel.
Salvati A, Carnevali I, Alexandrova E, Facchi S, Ronchi S, Libera L, Sahnane N, Memoli D, Lamberti J, Amabile S, Pepe S, Tarallo R, Sessa F, Weisz A, Tibiletti MG, Rizzo F. Salvati A, et al. Among authors: amabile s. Exp Mol Pathol. 2022 Oct;128:104833. doi: 10.1016/j.yexmp.2022.104833. Epub 2022 Sep 20. Exp Mol Pathol. 2022. PMID: 36165864
Redox imbalance and morphological changes in skin fibroblasts in typical Rett syndrome.
Signorini C, Leoncini S, De Felice C, Pecorelli A, Meloni I, Ariani F, Mari F, Amabile S, Paccagnini E, Gentile M, Belmonte G, Zollo G, Valacchi G, Durand T, Galano JM, Ciccoli L, Renieri A, Hayek J. Signorini C, et al. Among authors: amabile s. Oxid Med Cell Longev. 2014;2014:195935. doi: 10.1155/2014/195935. Epub 2014 May 29. Oxid Med Cell Longev. 2014. PMID: 24987493 Free PMC article.
18 results