Publications by authors named "Fernanda Fabiani"

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Hereditary Transthyretin Amyloidosis: Genetic Characterization of the P.Val142Ile Variant in a Calabrian Kindred.
Francesca Dinatolo, Radha Procopio, Valentina Rocca, Elisa Lo Feudo, Adele Dattola, Fernanda Fabiani

Genes (Basel)· August 2025

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Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.
Francesco Paduano, Emma Colao, Fernanda Fabiani, Valentina Rocca, Francesca Dinatolo

Genes (Basel)· July 2022

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Case Report: Identification of a Novel Pathogenic Germline Variant in a Family With Li-Fraumeni Syndrome.
Francesco Paduano, Fernanda Fabiani, Emma Colao, Francesco Trapasso, Nicola Perrotti

Front Genet· September 2021

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A Familial Form of Epidermolysis Bullosa Simplex Associated with a Pathogenic Variant in .
Francesco Paduano, Emma Colao, Teresa Grillone, Marco Flavio Michele Vismara, Rosario Amato, Fernanda Fabiani

Genes (Basel)· September 2021

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Epigenetic Regulation of Mitochondrial Quality Control Genes in Multiple Myeloma: A Sequenom MassARRAY Pilot Investigation on HMCLs.
Patrizia D'Aquila, Domenica Ronchetti, Maria Eugenia Gallo Cantafio, Katia Todoerti, Elisa Taiana, Fernanda Fabiani

J Clin Med· March 2021

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Polymorphic Variants in NR1I3 and UGT2B7 Predict Taxane Neurotoxicity and Have Prognostic Relevance in Patients With Breast Cancer: A Case-Control Study.
Mariamena Arbitrio, Francesca Scionti, Emanuela Altomare, Maria Teresa Di Martino, Giuseppe Agapito, Fernanda Fabiani

Clin Pharmacol Ther· August 2019

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A novel variant causative of pseudoxanthoma elasticum.
Gianluca Contrò, Rossana Tallerico, Vincenzo Dattilo, Fernanda Fabiani, Maria Vittoria Enzo

Hum Genome Var· June 2019

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Real-life 3D therapy failure: Analysis of NS5A 93H RAS plus 108 K polymorphism in complex with ombitasvir by molecular modeling.
Nadia Marascio, Grazia Pavia, Isabella Romeo, Carmine Talarico, Sebastiano Di Salvo, Fernanda Fabiani

J Med Virol· July 2018

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New disease causative mutation of Gitelman's syndrome.
Teresa Grillone, Miranda Menniti, Francesco Bombardiere, Marco Flavio Michele Vismara, Stefania Belviso, Fernanda Fabiani

World J Nephrol· November 2016

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The sodium-phosphate co-transporter SLC34A2, and pulmonary alveolar microlithiasis: Presentation of an inbred family and a novel truncating mutation in exon 3.
Marco Favio Michele Vismara, Emma Colao, Fernanda Fabiani, Francesco Bombardiere, Oscar Tamburrini

Respir Med Case Rep· January 2016

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Interleukin 27 polymorphisms in HCV RNA positive patients: is there an impact on response to interferon therapy?
Emilia Zicca, Angela Quirino, Nadia Marascio, Stefania Nucara, Fernanda Fabiani

BMC Infect Dis· November 2014

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Multiple genetic alterations within the PI3K pathway are responsible for AKT activation in patients with ovarian carcinoma.
Carmela De Marco, Nicola Rinaldo, Paola Bruni, Carmine Malzoni, Fulvio Zullo, Fernanda Fabiani

PLoS One· September 2013

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DNA-demethylating and anti-tumor activity of synthetic miR-29b mimics in multiple myeloma.
Nicola Amodio, Marzia Leotta, Dina Bellizzi, Maria Teresa Di Martino, Patrizia D'Aquila, Fernanda Fabiani

Oncotarget· October 2012

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Signaling networks associated with AKT activation in non-small cell lung cancer (NSCLC): new insights on the role of phosphatydil-inositol-3 kinase.
Marianna Scrima, Carmela De Marco, Fernanda Fabiani, Renato Franco, Giuseppe Pirozzi

PLoS One· June 2012

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The nonreceptor-type tyrosine phosphatase PTPN13 is a tumor suppressor gene in non-small cell lung cancer.
Marianna Scrima, Carmela De Marco, Fernanda De Vita, Fernanda Fabiani, Renato Franco

Am J Pathol· March 2012

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Single nucleotide polymorphisms of ABCC5 and ABCG1 transporter genes correlate to irinotecan-associated gastrointestinal toxicity in colorectal cancer patients: a DMET microarray profiling study.
Maria Teresa Di Martino, Mariamena Arbitrio, Emanuela Leone, Pietro Hiram Guzzi, Maria Saveria Rotundo, Fernanda Fabiani

Cancer Biol Ther· November 2011

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Identification of a new mutation in the gene coding for hairless protein responsible for alopecia universalis: The importance of direct gene sequencing.
Stefania Nucara, Emma Colao, Graziella Mangone, Francesco Baudi, Fernanda Fabiani

Dermatol Online J· January 2011

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Activating E17K mutation in the gene encoding the protein kinase AKT1 in a subset of squamous cell carcinoma of the lung.
Donatella Malanga, Marianna Scrima, Carmela De Marco, Fernanda Fabiani, Nicla De Rosa

Cell Cycle· March 2008

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Loss of p27 expression through RAS-->BRAF-->MAP kinase-dependent pathway in human thyroid carcinomas.
Maria Letizia Motti, Carmela De Marco, Daniela Califano, Silvia De Gisi, Donatella Malanga, Fernanda Fabiani

Cell Cycle· November 2007

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Loss of the tumor suppressor gene PTEN marks the transition from intratubular germ cell neoplasias (ITGCN) to invasive germ cell tumors.
Dolores Di Vizio, Letizia Cito, Angelo Boccia, Paolo Chieffi, Luigi Insabato, Fernanda Fabiani

Oncogene· March 2005

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