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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 1
2004 2
2005 3
2007 3
2008 1
2009 3
2010 3
2011 4
2012 5
2013 7
2014 4
2015 6
2016 3
2018 5
2019 4
2020 4
2021 1
2022 3
2023 1
2024 3

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62 results

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Page 1
9q34.3 microduplications lead to neurodevelopmental disorders through EHMT1 overexpression.
Bonati MT, Castronovo C, Sironi A, Zimbalatti D, Bestetti I, Crippa M, Novelli A, Loddo S, Dentici ML, Taylor J, Devillard F, Larizza L, Finelli P. Bonati MT, et al. Among authors: finelli p. Neurogenetics. 2019 Aug;20(3):145-154. doi: 10.1007/s10048-019-00581-6. Epub 2019 Jun 17. Neurogenetics. 2019. PMID: 31209758 Free article.
DIS3 depletion in multiple myeloma causes extensive perturbation in cell cycle progression and centrosome amplification.
Favasuli VK, Ronchetti D, Silvestris I, Puccio N, Fabbiano G, Traini V, Todoerti K, Erratico S, Ciarrocchi A, Fragliasso V, Giannandrea D, Tumiatti F, Chiaramonte R, Torrente Y, Finelli P, Morelli E, Munshi NC, Bolli N, Neri A, Taìana E. Favasuli VK, et al. Among authors: finelli p. Haematologica. 2024 Jan 1;109(1):231-244. doi: 10.3324/haematol.2023.283274. Haematologica. 2024. PMID: 37439377 Free PMC article.
Complex de novo chromosomal rearrangement at 15q11-q13 involving an intrachromosomal triplication in a patient with a severe neuropsychological phenotype: clinical report and review of the literature.
Castronovo C, Crippa M, Bestetti I, Rusconi D, Russo S, Larizza L, Sangermani R, Bonati MT, Finelli P. Castronovo C, et al. Among authors: finelli p. Am J Med Genet A. 2015 Jan;167A(1):221-30. doi: 10.1002/ajmg.a.36815. Epub 2014 Oct 22. Am J Med Genet A. 2015. PMID: 25339188 Review.
SETD5 Gene Haploinsufficiency in Three Patients With Suspected KBG Syndrome.
Crippa M, Bestetti I, Maitz S, Weiss K, Spano A, Masciadri M, Smithson S, Larizza L, Low K, Cohen L, Finelli P. Crippa M, et al. Among authors: finelli p. Front Neurol. 2020 Jul 24;11:631. doi: 10.3389/fneur.2020.00631. eCollection 2020. Front Neurol. 2020. PMID: 32793091 Free PMC article.
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome.
Bestetti I, Crippa M, Sironi A, Tumiatti F, Masciadri M, Smeland MF, Naik S, Murch O, Bonati MT, Spano A, Cattaneo E, Mariani M, Gotta F, Crosti F, Cavalli P, Pantaleoni C, Natacci F, Bedeschi MF, Milani D, Maitz S, Selicorni A, Spaccini L, Peron A, Russo S, Larizza L, Low K, Finelli P. Bestetti I, et al. Among authors: finelli p. Int J Mol Sci. 2022 May 25;23(11):5912. doi: 10.3390/ijms23115912. Int J Mol Sci. 2022. PMID: 35682590 Free PMC article.
A case of 18p chromosomal deletion encompassing GNAL in a patient with dystonia-parkinsonism.
Di Rauso G, Cavallieri F, Monfrini E, Fraternali A, Fioravanti V, Grisanti S, Gessani A, Campanini I, Merlo A, Toschi G, Napoli M, Pascarella R, Silipigni R, Finelli P, Paul JJ, Bauer P, Versari A, Di Fonzo A, Valzania F. Di Rauso G, et al. Among authors: finelli p. J Mov Disord. 2024 Jan 23. doi: 10.14802/jmd.23222. Online ahead of print. J Mov Disord. 2024. PMID: 38258373 Free article. No abstract available.
62 results