Publications by authors named "Daria C Loconte"

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Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Alessandro Mussa, Chiara Leoni, Matteo Iacoviello, Diana Carli, Carlotta Ranieri, Daria Carmela Loconte

J Med Genet· February 2023

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Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
Benedetta Beltrami, Jacopo Cerasani, Alessandra Consales, Roberta Villa, Nicoletta Resta, Daria Carmela Loconte

Clin Case Rep· August 2022

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A prospective multicentric study of risk-reducing salpingo-oophorectomy in BRCA mutation patients.
Vera Loizzi, Ettore Cicinelli, Vittoria Del Vecchio, Francesca Arezzo, Xheni Deromemaj, Daria Carmela Loconte

Acta Biomed· August 2022

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Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers.
Antonella Turchiano, Daria Carmela Loconte, Rosalba De Nola, Francesca Arezzo, Giulia Chiarello

Cancers (Basel)· January 2022

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Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects.
Mattia Gentile, Carlotta Ranieri, Daria C Loconte, Emanuela Ponzi, Romina Ficarella

Clin Genet· March 2021

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The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer.
Valentina Grossi, Giovanna Forte, Paola Sanese, Alessia Peserico, Tugsan Tezil, Daria C Loconte

Nucleic Acids Res· June 2018

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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

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

Hum Pathol· October 2014

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Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.
Nicoletta Resta, Daniela Pierannunzio, Gennaro Mariano Lenato, Alessandro Stella, Riccardo Capocaccia, Daria Carmela Loconte

Dig Liver Dis· July 2013

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