Giacopuzzi E - Search Results

1

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.

Ritelli M, Morlino S, Giacopuzzi E, Bernardini L, Torres B, Santoro G, Ravasio V, Chiarelli N, D'Angelantonio D, Novelli A, Grammatico P, Colombi M, Castori M. Ritelli M, et al. Among authors: giacopuzzi e. Clin Genet. 2018 Jan;93(1):126-133. doi: 10.1111/cge.13032. Epub 2017 Aug 21. Clin Genet. 2018. PMID: 28386937

2

In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.

Bonardi D, Ravasio V, Borsani G, d'Azzo A, Bresciani R, Monti E, Giacopuzzi E. Bonardi D, et al. Among authors: giacopuzzi e. PLoS One. 2014 Aug 25;9(8):e104229. doi: 10.1371/journal.pone.0104229. eCollection 2014. PLoS One. 2014. PMID: 25153125 Free PMC article.

3

Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

Ritelli M, Morlino S, Giacopuzzi E, Carini G, Cinquina V, Chiarelli N, Majore S, Colombi M, Castori M. Ritelli M, et al. Among authors: giacopuzzi e. Am J Med Genet A. 2017 Jan;173(1):169-176. doi: 10.1002/ajmg.a.38004. Epub 2016 Oct 14. Am J Med Genet A. 2017. PMID: 27739212

4

Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing.

Ritelli M, Palit A, Giacopuzzi E, Inamadar AC, Dordoni C, Mujja A, Murgude MS, Colombi M. Ritelli M, et al. Among authors: giacopuzzi e. J Dermatol Sci. 2017 Oct;88(1):141-143. doi: 10.1016/j.jdermsci.2017.04.010. Epub 2017 Apr 29. J Dermatol Sci. 2017. PMID: 28499588 No abstract available.

5

Genomic and biochemical characterization of sialic acid acetylesterase (siae) in zebrafish.

Ravasio V, Damiati E, Zizioli D, Orizio F, Giacopuzzi E, Manzoni M, Bresciani R, Borsani G, Monti E. Ravasio V, et al. Among authors: giacopuzzi e. Glycobiology. 2017 Oct 1;27(10):938-946. doi: 10.1093/glycob/cwx068. Glycobiology. 2017. PMID: 28922741

6

Differential Enzymatic Activity of Rat ADAR2 Splicing Variants Is Due to Altered Capability to Interact with RNA in the Deaminase Domain.

Filippini A, Bonini D, Giacopuzzi E, La Via L, Gangemi F, Colombi M, Barbon A. Filippini A, et al. Among authors: giacopuzzi e. Genes (Basel). 2018 Feb 8;9(2):79. doi: 10.3390/genes9020079. Genes (Basel). 2018. PMID: 29419780 Free PMC article.

7

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.

Ravasio V, Ritelli M, Legati A, Giacopuzzi E. Ravasio V, et al. Among authors: giacopuzzi e. Bioinformatics. 2018 Sep 1;34(17):3038-3040. doi: 10.1093/bioinformatics/bty303. Bioinformatics. 2018. PMID: 29668842

8

Real-world clinical applicability of pathogenicity predictors assessed on SERPINA1 mutations in alpha-1-antitrypsin deficiency.

Giacopuzzi E, Laffranchi M, Berardelli R, Ravasio V, Ferrarotti I, Gooptu B, Borsani G, Fra A. Giacopuzzi E, et al. Hum Mutat. 2018 Sep;39(9):1203-1213. doi: 10.1002/humu.23562. Epub 2018 Jun 28. Hum Mutat. 2018. PMID: 29882371

9

A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme.

Magri C, Giacopuzzi E, La Via L, Bonini D, Ravasio V, Elhussiny MEA, Orizio F, Gangemi F, Valsecchi P, Bresciani R, Barbon A, Vita A, Gennarelli M. Magri C, et al. Among authors: giacopuzzi e. Sci Rep. 2018 Oct 19;8(1):15470. doi: 10.1038/s41598-018-33924-8. Sci Rep. 2018. PMID: 30341396 Free PMC article.

10

Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes.

Ritelli M, Cinquina V, Giacopuzzi E, Venturini M, Chiarelli N, Colombi M. Ritelli M, et al. Among authors: giacopuzzi e. Genes (Basel). 2019 Aug 21;10(9):631. doi: 10.3390/genes10090631. Genes (Basel). 2019. PMID: 31438591 Free PMC article. Review.

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