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Long-read sequencing reveals chromothripsis in a molecularly unsolved case of Cornelia de Lange syndrome.
Front Genet. 2024 Mar 13;15:1358334. doi: 10.3389/fgene.2024.1358334. eCollection 2024.
Front Genet. 2024.
PMID: 38544803
Free PMC 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: tumiatti f.
Haematologica. 2024 Jan 1;109(1):231-244. doi: 10.3324/haematol.2023.283274.
Haematologica. 2024.
PMID: 37439377
Free PMC article.
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A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele.
Sironi A, Bestetti I, Masciadri M, Tumiatti F, Crippa M, Pantaleoni C, Russo S, D'Arrigo S, Milani D, Larizza L, Finelli P.
Sironi A, et al. Among authors: tumiatti f.
Eur J Hum Genet. 2022 Nov;30(11):1233-1238. doi: 10.1038/s41431-022-01143-5. Epub 2022 Jul 11.
Eur J Hum Genet. 2022.
PMID: 35821519
Free PMC article.
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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: tumiatti f.
Int J Mol Sci. 2022 May 25;23(11):5912. doi: 10.3390/ijms23115912.
Int J Mol Sci. 2022.
PMID: 35682590
Free PMC article.
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