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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: ghelma f. Genes (Basel). 2022 Mar 15;13(3):514. doi: 10.3390/genes13030514. Genes (Basel). 2022. PMID: 35328068 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: ghelma f. 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.
Metastatic lung cancer presenting as thoracic empyema. A Case report.
Leporati A, Raveglia F, Cioffi U, De Simone M, Ghelma F, Baisi A. Leporati A, et al. Among authors: ghelma f. Clin Case Rep. 2020 Feb 5;8(3):484-486. doi: 10.1002/ccr3.2566. eCollection 2020 Mar. Clin Case Rep. 2020. PMID: 32185041 Free PMC article.
20 results