D. Loconte

发表

Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

A. Andriulli, A. Piepoli, A. Viel, 2013, Digestive and Liver Disease.

Beyond BRCA1/2: Homologous Recombination Repair Genetic Profile in a Large Cohort of Apulian Ovarian Cancers

C. Forleo, E. Cicinelli, A. Stella, 2022, Cancers.

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

M. Cutrone, R. Tenconi, L. Chessa, 2015, PloS one.

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1

N. Bartolomeo, G. Serio, N. Bukvic, 2018, Genes.

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1

N. Bartolomeo, G. Serio, N. Bukvic, 2018, Genes.

A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage.

G. Ingravallo, C. Simone, A. Stella, 2014, Human pathology.

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

R. Tenconi, V. Saletti, C. Leoni, 2022, Journal of Medical Genetics.

The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer

C. Simone, N. Resta, F. Susca, 2018, Nucleic acids research.

In vitro efficacy of ARQ 092, an allosteric AKT inhibitor, on primary fibroblast cells derived from patients with PIK3CA-related overgrowth spectrum (PROS)

C. Simone, S. Di Tommaso, A. Selicorni, 2018, neurogenetics.

Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder.

N. Brunetti‐Pierri, C. Bruno, M. Pinelli, 2017, European Journal of Medical Genetics.

Loss of STK11 expression is an early event in prostate carcinogenesis and predicts therapeutic response to targeted therapy against MAPK/p38

P. Ditonno, M. Battaglia, E. Maiorano, 2015, Autophagy.

Stat3-positive tumor cells contribute to vessels neoformation in primary central nervous system lymphoma

D. Ribatti, B. Nico, R. Senetta, 2017, Oncotarget.

Characterization of the rs2802292 SNP identifies FOXO3A as a modifier locus predicting cancer risk in patients with PJS and PHTS hamartomatous polyposis syndromes

M. Genuardi, V. Celestini, C. Simone, 2014, BMC Cancer.

Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?

L. Bassi, M. Bedeschi, B. Beltrami, 2022, Clinical case reports.

401 Loss of LKB1/STK11 expression is an early event in prostate cancer development and predicts therapeutic response to p38α inhibitor

P. Ditonno, M. Battaglia, C. Simone, 2015 .

The longevity SNP rs2802292 uncovered: HSF1 activates stress-dependent expression of FOXO3 through an intronic enhancer

C. Simone, N. Resta, F. Susca, 2018, Nucleic acids research.

A prospective multicentric study of risk-reducing salpingo-oophorectomy in BRCA mutation patients

A. Paradiso, E. Cicinelli, L. Resta, 2021, Acta bio-medica : Atenei Parmensis.

Functional evidence of mTORβ splice variant involvement in the pathogenesis of congenital heart defects

G. M. Ventola, R. Ficarella, C. Simone, 2020, Clinical genetics.