Mazza T - Search Results

1

The Putative Role of TIM-3 Variants in Polyendocrine Autoimmunity: Insights from a WES Investigation.

Ariolli A, Agolini E, Mazza T, Petrizzelli F, Petrini S, D'Oria V, Cudini A, Nardella C, Pesce V, Comparcola D, Cappa M, Fierabracci A. Ariolli A, et al. Among authors: mazza t. Int J Mol Sci. 2024 Oct 12;25(20):10994. doi: 10.3390/ijms252010994. Int J Mol Sci. 2024. PMID: 39456777 Free PMC article.

2

A Broad Overview of Computational Methods for Predicting the Pathophysiological Effects of Non-synonymous Variants.

Castellana S, Fusilli C, Mazza T. Castellana S, et al. Among authors: mazza t. Methods Mol Biol. 2016;1415:423-40. doi: 10.1007/978-1-4939-3572-7_22. Methods Mol Biol. 2016. PMID: 27115646

3

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.

Motta M, Giancotti A, Mastromoro G, Chandramouli B, Pinna V, Pantaleoni F, Di Giosaffatte N, Petrini S, Mazza T, D'Ambrosio V, Versacci P, Ventriglia F, Chillemi G, Pizzuti A, Tartaglia M, De Luca A. Motta M, et al. Among authors: mazza t. Hum Mutat. 2019 Aug;40(8):1046-1056. doi: 10.1002/humu.23767. Epub 2019 May 6. Hum Mutat. 2019. PMID: 31059601

4

Are Gaming-Enabled Graphic Processing Unit Cards Convenient for Molecular Dynamics Simulation?

Biagini T, Petrizzelli F, Truglio M, Cespa R, Barbieri A, Capocefalo D, Castellana S, Tevy MF, Carella M, Mazza T. Biagini T, et al. Among authors: mazza t. Evol Bioinform Online. 2019 May 22;15:1176934319850144. doi: 10.1177/1176934319850144. eCollection 2019. Evol Bioinform Online. 2019. PMID: 31205410 Free PMC article.

5

Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.

Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, Mazza T, Novelli A, Carella M, Castori M. Micale L, et al. Among authors: mazza t. Genes (Basel). 2019 Nov 25;10(12):967. doi: 10.3390/genes10120967. Genes (Basel). 2019. PMID: 31775249 Free PMC article.

6

Morlino S, Micale L, Ritelli M, Rohrbach M, Zoppi N, Vandersteen A, Mackay S, Agolini E, Cocciadiferro D, Sasaki E, Madeo A, Ferraris A, Reardon W, Di Rocco M, Novelli A, Grammatico P, Malfait F, Mazza T, Hakim A, Giunta C, Colombi M, Castori M. Morlino S, et al. Among authors: mazza t. Clin Genet. 2020 Mar;97(3):396-406. doi: 10.1111/cge.13683. Epub 2019 Dec 12. Clin Genet. 2020. PMID: 31794058

7

Compound Phenotype Due to Recessive Variants in LARP7 and OTOG Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing.

Palumbo P, Palumbo O, Leone MP, di Muro E, Castellana S, Bisceglia L, Mazza T, Carella M, Castori M. Palumbo P, et al. Among authors: mazza t. Genes (Basel). 2020 Mar 31;11(4):379. doi: 10.3390/genes11040379. Genes (Basel). 2020. PMID: 32244554 Free PMC article.

8

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance.

Traversa A, Marchionni E, Giovannetti A, Genovesi ML, Panzironi N, Margiotti K, Napoli G, Piceci Sparascio F, De Luca A, Petrizzelli F, Carella M, Cardona F, Bernardo S, Manganaro L, Mazza T, Pizzuti A, Caputo V. Traversa A, et al. Among authors: mazza t. Mol Genet Genomic Med. 2020 Aug;8(8):e1336. doi: 10.1002/mgg3.1336. Epub 2020 Jun 10. Mol Genet Genomic Med. 2020. PMID: 32519823 Free PMC article.

9

Mechanisms of pathogenesis of missense mutations on the KDM6A-H3 interaction in type 2 Kabuki Syndrome.

Petrizzelli F, Biagini T, Barbieri A, Parca L, Panzironi N, Castellana S, Caputo V, Vescovi AL, Carella M, Mazza T. Petrizzelli F, et al. Among authors: mazza t. Comput Struct Biotechnol J. 2020 Jul 25;18:2033-2042. doi: 10.1016/j.csbj.2020.07.013. eCollection 2020. Comput Struct Biotechnol J. 2020. PMID: 32802275 Free PMC article.

10

Transcriptome and Gene Fusion Analysis of Synchronous Lesions Reveals lncMRPS31P5 as a Novel Transcript Involved in Colorectal Cancer.

Panza A, Castellana S, Biscaglia G, Piepoli A, Parca L, Gentile A, Latiano A, Mazza T, Perri F, Andriulli A, Palmieri O. Panza A, et al. Among authors: mazza t. Int J Mol Sci. 2020 Sep 27;21(19):7120. doi: 10.3390/ijms21197120. Int J Mol Sci. 2020. PMID: 32992457 Free PMC article.

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