Germani A - Search Results

1

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

Rubattu S, Bozzao C, Pennacchini E, Pagannone E, Musumeci BM, Piane M, Germani A, Savio C, Francia P, Volpe M, Autore C, Chessa L. Rubattu S, et al. Among authors: germani a. Int J Mol Sci. 2016 Jul 30;17(8):1239. doi: 10.3390/ijms17081239. Int J Mol Sci. 2016. PMID: 27483260 Free PMC article.

2

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.

Loconte DC, Grossi V, Bozzao C, Forte G, Bagnulo R, Stella A, Lastella P, Cutrone M, Benedicenti F, Susca FC, Patruno M, Varvara D, Germani A, Chessa L, Laforgia N, Tenconi R, Simone C, Resta N. Loconte DC, et al. Among authors: germani a. PLoS One. 2015 Apr 27;10(4):e0123092. doi: 10.1371/journal.pone.0123092. eCollection 2015. PLoS One. 2015. PMID: 25915946 Free PMC article.

3

Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders.

Piane M, Molinaro A, Soresina A, Costa S, Maffeis M, Germani A, Pinelli L, Meschini R, Plebani A, Chessa L, Micheli R. Piane M, et al. Among authors: germani a. J Neurol Sci. 2016 Dec 15;371:48-53. doi: 10.1016/j.jns.2016.10.014. Epub 2016 Oct 13. J Neurol Sci. 2016. PMID: 27871447

4

Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone.

Menotta M, Biagiotti S, Bartolini G, Marzia B, Orazi S, Germani A, Chessa L, Magnani M. Menotta M, et al. Among authors: germani a. Cell Biochem Biophys. 2017 Mar;75(1):95-102. doi: 10.1007/s12013-016-0775-0. Epub 2016 Dec 8. Cell Biochem Biophys. 2017. PMID: 27933465

5

Rapid detection of copy number variations and point mutations in BRCA1/2 genes using a single workflow by ion semiconductor sequencing pipeline.

Germani A, Libi F, Maggi S, Stanzani G, Lombardi A, Pellegrini P, Mattei M, De Marchis L, Amanti C, Pizzuti A, Torrisi MR, Piane M. Germani A, et al. Oncotarget. 2018 Sep 14;9(72):33648-33655. doi: 10.18632/oncotarget.26000. eCollection 2018 Sep 14. Oncotarget. 2018. PMID: 30263092 Free PMC article.

6

Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing.

Magrì D, Mastromarino V, Gallo G, Zachara E, Re F, Agostoni P, Giordano D, Rubattu S, Forte M, Cotugno M, Torrisi MR, Petrucci S, Germani A, Savio C, Maruotti A, Volpe M, Autore C, Piane M, Musumeci B. Magrì D, et al. Among authors: germani a. J Clin Med. 2020 May 28;9(6):1636. doi: 10.3390/jcm9061636. J Clin Med. 2020. PMID: 32481709 Free PMC article.

7

Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.

Germani A, Petrucci S, De Marchis L, Libi F, Savio C, Amanti C, Bonifacino A, Campanella B, Capalbo C, Lombardi A, Maggi S, Mattei M, Osti MF, Pellegrini P, Speranza A, Stanzani G, Vitale V, Pizzuti A, Torrisi MR, Piane M. Germani A, et al. J Clin Med. 2020 Sep 17;9(9):3003. doi: 10.3390/jcm9093003. J Clin Med. 2020. PMID: 32957588 Free PMC article.

8

TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report.

Cava F, Cristiano E, Musumeci MB, Savio C, Germani A, Monaco ML, Petrucci S, Torrisi MR, Autore C, Rubattu S, Piane M. Cava F, et al. Among authors: germani a. Mol Genet Metab Rep. 2021 Mar 18;27:100743. doi: 10.1016/j.ymgmr.2021.100743. eCollection 2021 Jun. Mol Genet Metab Rep. 2021. PMID: 33777698 Free PMC article.

9

Genomic Breakpoints' Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer.

Germani A, Guadagnolo D, Salvati V, Micolonghi C, Mancini R, Mastromoro G, Sadeghi S, Petrucci S, Pizzuti A, Piane M. Germani A, et al. Diagnostics (Basel). 2022 Jun 22;12(7):1520. doi: 10.3390/diagnostics12071520. Diagnostics (Basel). 2022. PMID: 35885426 Free PMC article.

10

A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome.

Micolonghi C, Piane M, Germani A, Sadeghi S, Libi F, Savio C, Fabiani M, Mancini R, Ranieri D, Pizzuti A, Corleto VD, Parisi P, Visco V, Di Nardo G, Petrucci S. Micolonghi C, et al. Among authors: germani a. Diagnostics (Basel). 2022 Nov 4;12(11):2684. doi: 10.3390/diagnostics12112684. Diagnostics (Basel). 2022. PMID: 36359527 Free PMC article.

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