Fazio G - Search Results

1

Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies.

Di Fede E, Lettieri A, Taci E, Castiglioni S, Rebellato S, Parodi C, Colombo EA, Grazioli P, Natacci F, Marchisio P, Pezzani L, Fazio G, Milani D, Massa V, Gervasini C. Di Fede E, et al. Among authors: fazio g. Hum Genet. 2024 Jun;143(6):747-759. doi: 10.1007/s00439-024-02675-0. Epub 2024 May 16. Hum Genet. 2024. PMID: 38753158 Free PMC article.

2

CyclinD1 Down-Regulation and Increased Apoptosis Are Common Features of Cohesinopathies.

Fazio G, Gaston-Massuet C, Bettini LR, Graziola F, Scagliotti V, Cereda A, Ferrari L, Mazzola M, Cazzaniga G, Giordano A, Cotelli F, Bellipanni G, Biondi A, Selicorni A, Pistocchi A, Massa V. Fazio G, et al. J Cell Physiol. 2016 Mar;231(3):613-22. doi: 10.1002/jcp.25106. J Cell Physiol. 2016. PMID: 26206533

3

Impairment of Retinoic Acid Signaling in Cornelia de Lange Syndrome Fibroblasts.

Fazio G, Bettini LR, Rigamonti S, Meta D, Biondi A, Cazzaniga G, Selicorni A, Massa V. Fazio G, et al. Birth Defects Res. 2017 Oct 2;109(16):1268-1276. doi: 10.1002/bdr2.1070. Epub 2017 Jul 28. Birth Defects Res. 2017. PMID: 28752682

4

Rings and Bricks: Expression of Cohesin Components is Dynamic during Development and Adult Life.

Bettini LR, Graziola F, Fazio G, Grazioli P, Scagliotti V, Pasquini M, Cazzaniga G, Biondi A, Larizza L, Selicorni A, Gaston-Massuet C, Massa V. Bettini LR, et al. Among authors: fazio g. Int J Mol Sci. 2018 Feb 1;19(2):438. doi: 10.3390/ijms19020438. Int J Mol Sci. 2018. PMID: 29389897 Free PMC article.

5

Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation.

Bottai D, Spreafico M, Pistocchi A, Fazio G, Adami R, Grazioli P, Canu A, Bragato C, Rigamonti S, Parodi C, Cazzaniga G, Biondi A, Cotelli F, Selicorni A, Massa V. Bottai D, et al. Among authors: fazio g. Hum Mol Genet. 2019 Jan 1;28(1):64-73. doi: 10.1093/hmg/ddy329. Hum Mol Genet. 2019. PMID: 30239720 Free article.

6

Antenatal Microbial Colonization of Mammalian Gut.

Borghi E, Massa V, Severgnini M, Fazio G, Avagliano L, Menegola E, Bulfamante GP, Morace G, Borgo F. Borghi E, et al. Among authors: fazio g. Reprod Sci. 2019 Aug;26(8):1045-1053. doi: 10.1177/1933719118804411. Epub 2018 Oct 11. Reprod Sci. 2019. PMID: 30309297 Free PMC article.

7

First evidence of a paediatric patient with Cornelia de Lange syndrome with acute lymphoblastic leukaemia.

Fazio G, Massa V, Grioni A, Bystry V, Rigamonti S, Saitta C, Galbiati M, Rizzari C, Consarino C, Biondi A, Selicorni A, Cazzaniga G. Fazio G, et al. J Clin Pathol. 2019 Aug;72(8):558-561. doi: 10.1136/jclinpath-2019-205707. Epub 2019 Apr 4. J Clin Pathol. 2019. PMID: 30948435

8

Insights into the Role of the Microbiota and of Short-Chain Fatty Acids in Rubinstein-Taybi Syndrome.

Di Fede E, Ottaviano E, Grazioli P, Ceccarani C, Galeone A, Parodi C, Colombo EA, Bassanini G, Fazio G, Severgnini M, Milani D, Verduci E, Vaccari T, Massa V, Borghi E, Gervasini C. Di Fede E, et al. Among authors: fazio g. Int J Mol Sci. 2021 Mar 31;22(7):3621. doi: 10.3390/ijms22073621. Int J Mol Sci. 2021. PMID: 33807238 Free PMC article.

9

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: fazio g. 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.

10

Potential role of STAG1 mutations in genetic predisposition to childhood hematological malignancies.

Saitta C, Rebellato S, Bettini LR, Giudici G, Panini N, Erba E, Massa V, Auer F, Friedrich U, Hauer J, Biondi A, Fazio G, Cazzaniga G. Saitta C, et al. Among authors: fazio g. Blood Cancer J. 2022 Jun 2;12(6):88. doi: 10.1038/s41408-022-00683-9. Blood Cancer J. 2022. PMID: 35654786 Free PMC article. No abstract available.

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