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Year Number of Results
2009 1
2010 1
2013 1
2014 1
2015 1
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2019 2
2020 2
2021 7
2022 2
2023 1
2024 0

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18 results

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Page 1
KMT2A: Umbrella Gene for Multiple Diseases.
Castiglioni S, Di Fede E, Bernardelli C, Lettieri A, Parodi C, Grazioli P, Colombo EA, Ancona S, Milani D, Ottaviano E, Borghi E, Massa V, Ghelma F, Vignoli A, Lesma E, Gervasini C. Castiglioni S, et al. Among authors: colombo ea. Genes (Basel). 2022 Mar 15;13(3):514. doi: 10.3390/genes13030514. Genes (Basel). 2022. PMID: 35328068 Free PMC article. Review.
Epigenetic disorders: Lessons from the animals-animal models in chromatinopathies.
Di Fede E, Grazioli P, Lettieri A, Parodi C, Castiglioni S, Taci E, Colombo EA, Ancona S, Priori A, Gervasini C, Massa V. Di Fede E, et al. Among authors: colombo ea. Front Cell Dev Biol. 2022 Sep 26;10:979512. doi: 10.3389/fcell.2022.979512. eCollection 2022. Front Cell Dev Biol. 2022. PMID: 36225316 Free PMC article. Review.
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes.
Di Fede E, Massa V, Augello B, Squeo G, Scarano E, Perri AM, Fischetto R, Causio FA, Zampino G, Piccione M, Curridori E, Mazza T, Castellana S, Larizza L, Ghelma F, Colombo EA, Gandini MC, Castori M, Merla G, Milani D, Gervasini C. Di Fede E, et al. Among authors: colombo ea. Eur J Hum Genet. 2021 Jan;29(1):88-98. doi: 10.1038/s41431-020-0679-8. Epub 2020 Jul 8. Eur J Hum Genet. 2021. PMID: 32641752 Free PMC article.
Cohesin Mutations Induce Chromatin Conformation Perturbation of the H19/IGF2 Imprinted Region and Gene Expression Dysregulation in Cornelia de Lange Syndrome Cell Lines.
Pileggi S, La Vecchia M, Colombo EA, Fontana L, Colapietro P, Rovina D, Morotti A, Tabano S, Porta G, Alcalay M, Gervasini C, Miozzo M, Sirchia SM. Pileggi S, et al. Among authors: colombo ea. Biomolecules. 2021 Nov 2;11(11):1622. doi: 10.3390/biom11111622. Biomolecules. 2021. PMID: 34827619 Free PMC article.
Customised next-generation sequencing multigene panel to screen a large cohort of individuals with chromatin-related disorder.
Squeo GM, Augello B, Massa V, Milani D, Colombo EA, Mazza T, Castellana S, Piccione M, Maitz S, Petracca A, Prontera P, Accadia M, Della Monica M, Di Giacomo MC, Melis D, Selicorni A, Giglio S, Fischetto R, Di Fede E, Malerba N, Russo M, Castori M, Gervasini C, Merla G. Squeo GM, et al. Among authors: colombo ea. J Med Genet. 2020 Nov;57(11):760-768. doi: 10.1136/jmedgenet-2019-106724. Epub 2020 Mar 13. J Med Genet. 2020. PMID: 32170002
Spontaneous chromosomal instability in peripheral blood lymphocytes from two molecularly confirmed Italian patients with Hereditary Fibrosis Poikiloderma: insights into cancer predisposition.
Roversi G, Colombo EA, Magnani I, Gervasini C, Maggiore G, Paradisi M, Larizza L. Roversi G, et al. Among authors: colombo ea. Genet Mol Biol. 2021 Aug 6;44(3):e20200332. doi: 10.1590/1678-4685-GMB-2020-0332. eCollection 2021. Genet Mol Biol. 2021. PMID: 34358284 Free PMC article.
18 results