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Expanding the clinical spectrum of PPP3CA variants - alternative isoforms matter.
Castiglioni S, Pezzoli L, Pezzani L, Lettieri A, Di Fede E, Cereda A, Ancona S, Gallina A, Colombo EA, Parodi C, Grazioli P, Taci E, Milani D, Iascone M, Massa V, Gervasini C. Castiglioni S, et al. Among authors: di fede e. Orphanet J Rare Dis. 2024 Dec 20;19(1):481. doi: 10.1186/s13023-024-03507-0. Orphanet J Rare Dis. 2024. PMID: 39707491 Free PMC article.
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. 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.
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: di fede e. Genes (Basel). 2022 Mar 15;13(3):514. doi: 10.3390/genes13030514. Genes (Basel). 2022. PMID: 35328068 Free PMC article. Review.
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.
Saettini F, Fazio G, Bonati MT, Moratto D, Massa V, Di Fede E, Castiglioni S, Marchetti D, Chiarini M, Sottini A, Iascone M, Cazzaniga G, Imberti L, Biondi A, Gervasini C, Badolato R. Saettini F, et al. Among authors: di fede e. Am J Med Genet A. 2022 Jul;188(7):2129-2134. doi: 10.1002/ajmg.a.62719. Epub 2022 Mar 9. Am J Med Genet A. 2022. PMID: 35266289 Free article.
19 results