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Year Number of Results
2013 1
2014 3
2015 3
2016 2
2017 1
2018 1
2019 1
2020 1
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2022 2
2024 0

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13 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.
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.
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
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
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.
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome.
Landucci E, Brindisi M, Bianciardi L, Catania LM, Daga S, Croci S, Frullanti E, Fallerini C, Butini S, Brogi S, Furini S, Melani R, Molinaro A, Lorenzetti FC, Imperatore V, Amabile S, Mariani J, Mari F, Ariani F, Pizzorusso T, Pinto AM, Vaccarino FM, Renieri A, Campiani G, Meloni I. Landucci E, et al. Among authors: amabile s. Exp Cell Res. 2018 Jul 15;368(2):225-235. doi: 10.1016/j.yexcr.2018.05.001. Epub 2018 May 4. Exp Cell Res. 2018. PMID: 29730163 Free PMC article.
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.
Interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndrome.
Disciglio V, Lo Rizzo C, Mencarelli MA, Mucciolo M, Marozza A, Di Marco C, Massarelli A, Canocchi V, Baldassarri M, Ndoni E, Frullanti E, Amabile S, Anderlid BM, Metcalfe K, Le Caignec C, David A, Fryer A, Boute O, Joris A, Greco D, Pecile V, Battini R, Novelli A, Fichera M, Romano C, Mari F, Renieri A. Disciglio V, et al. Among authors: amabile s. Am J Med Genet A. 2014 Jul;164A(7):1666-76. doi: 10.1002/ajmg.a.36513. Epub 2014 Apr 3. Am J Med Genet A. 2014. PMID: 24700646
13 results