Publications by authors named "Fabio Libi"

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Reanalysis of Next-generation Sequencing Data in Patients With Hypertrophic Cardiomyopathy: Contribution of Spliceogenic Variants in an Italian Cohort.
Silvia Caroselli, Marco Fabiani, Caterina Micolonghi, Camilla Savio, Giacomo Tini, Fabio Libi

Ann Lab Med· January 2025

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Seminological, Hormonal and Ultrasonographic Features of Male Factor Infertility Due to Genetic Causes: Results from a Large Monocentric Retrospective Study.
Rossella Mazzilli, Simona Petrucci, Virginia Zamponi, Bianca Golisano, Giulia Pecora, Fabio Libi

J Clin Med· July 2024

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Heterozygous Pathogenic Nonsense Variant in the Gene in a Family with Unusually High Gastric Cancer Susceptibility.
Daniele Guadagnolo, Gioia Mastromoro, Enrica Marchionni, Aldo Germani, Fabio Libi

Biomedicines· July 2023

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Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?
Francesco Cava, Caterina Micolonghi, Maria Beatrice Musumeci, Simona Petrucci, Camilla Savio, Fabio Libi

Front Cardiovasc Med· April 2023

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A New Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome.
Caterina Micolonghi, Maria Piane, Aldo Germani, Soha Sadeghi, Fabio Libi

Diagnostics (Basel)· November 2022

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Beyond and : Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers.
Aldo Germani, Simona Petrucci, Laura De Marchis, Fabio Libi, Camilla Savio

J Clin Med· September 2020

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Rapid detection of copy number variations and point mutations in genes using a single workflow by ion semiconductor sequencing pipeline.
Aldo Germani, Fabio Libi, Stefano Maggi, Gianluca Stanzani, Augusto Lombardi

Oncotarget· September 2018

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Phenotype expression in a case of adult cystic fibrosis caused by an extremely rare compound heterozygous genotype (2183AA>G/2789+5G>A).
Gabriele Capurso, Andrea Sbrozzi-Vanni, Maria Piane, Paola Begini, Francesco Panzuto, Fabio Libi

Pancreas· July 2009

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Downregulation of the major histocompatibility complex class I molecules by human herpesvirus type 8 and impaired natural killer cell activity in primary effusion lymphoma development.
Maria Caterina Sirianni, Fabio Libi, Massimo Campagna, Davide Rossi, Daniela Capello

Br J Haematol· July 2005

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NK cell activity controls human herpesvirus 8 latent infection and is restored upon highly active antiretroviral therapy in AIDS patients with regressing Kaposi's sarcoma.
Maria Caterina Sirianni, Laura Vincenzi, Simone Topino, Antonello Giovannetti, Francesca Mazzetta, Fabio Libi

Eur J Immunol· October 2002

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