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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.
Pregnancy in a patient with Rothmund-Thomson type 2 syndrome.
Bognoni L, Colombo EA, Priolo M, Bognoni V, Romeo SG. Bognoni L, et al. Among authors: colombo ea. Int J Gynaecol Obstet. 2021 Jul;154(1):181-182. doi: 10.1002/ijgo.13667. Epub 2021 Apr 2. Int J Gynaecol Obstet. 2021. PMID: 33660851 No abstract available.
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.
52 results