Publications by authors named "Dora Varvara"

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Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family.
Mario Benvenuto, Dora Varvara, Massimo Carella, Pietro Palumbo, Luigi Bisceglia

Am J Med Genet A· January 2026

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AUTS2-related syndrome: Insights from a large European cohort.
Lorenzo Loberti, Loredaria Adamo, Enrica Antolini, Giulia Casamassima, Anne Destrèe, Dora Varvara

Genet Med· June 2025

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A familial form of Charcot-Marie-Tooth disease (type 2d) caused by a previously unreported variant in .
Dora Varvara, Serena Lattante, Stefania Magri, Francesca Balistreri, Francesca De Razza

J Neurogenet· December 2024

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Disease expression in juvenile polyposis syndrome: a retrospective survey on a cohort of 221 European patients and comparison with a literature-derived cohort of 473 SMAD4/BMPR1A pathogenic variant carriers.
Robert Blatter, Benjamin Tschupp, Stefan Aretz, Inge Bernstein, Chrystelle Colas, Dora Varvara

Genet Med· September 2020

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The Role of Oxidative Stress in the Pathomechanism of Congenital Malformations.
Nicola Laforgia, Antonio Di Mauro, Giovanna Favia Guarnieri, Dora Varvara, Lucrezia De Cosmo

Oxid Med Cell Longev· February 2019

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Accurate Classification of Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
Alessandro Stella, Patrizia Lastella, Daria Carmela Loconte, Nenad Bukvic, Dora Varvara

Genes (Basel)· April 2018

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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.
Daria C Loconte, Valentina Grossi, Cristina Bozzao, Giovanna Forte, Rosanna Bagnulo, Dora Varvara

PLoS One· January 2016

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A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage.
Daria Carmela Loconte, Margherita Patruno, Patrizia Lastella, Carmela Di Gregorio, Valentina Grossi, Dora Varvara

Hum Pathol· October 2014

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Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes.
Giovanna Forte, Valentina Grossi, Valentina Celestini, Giuseppe Lucisano, Marco Scardapane, Dora Varvara

BMC Cancer· September 2014

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Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients.
Cristina Bozzao, Dora Varvara, Marilidia Piglionica, Rosanna Bagnulo, Giovanna Forte

Int J Biol Markers· December 2012

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