R. Bagnulo

发表

Novel SCN5A p.W697X Nonsense Mutation Segregation in a Family with Brugada Syndrome

C. Pappone, G. Vicedomini, E. Locati, 2019, International journal of molecular sciences.

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.

Association of autoimmune thyroiditis and celiac disease with Juvenile Polyposis due to 10q23.1q23.31 deletion: Potential role of PI3K/Akt pathway dysregulation.

F. Guaraldi, G. Di Nardo, L. Tarani, 2017, European journal of medical genetics.

A novel cell type-specific role of p38α in the control of autophagy and cell death in colorectal cancer cells

B. Nico, G. Ingravallo, C. Simone, 2007, Cell Death and Differentiation.

Spectrum of Germline Pathogenic Variants in BRCA1/2 Genes in the Apulian Southern Italy Population: Geographic Distribution and Evidence for Targeted Genetic Testing

S. Tommasi, A. Paradiso, M. Digennaro, 2021, Cancers.

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

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

A homozygous frameshift mutation in the ESCO2 gene: Evidence of intertissue and interindividual variation in Nmd efficiency

C. Simone, M. D. Di Giacomo, G. Guanti, 2006, Journal of cellular physiology.

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 NF 1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1

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

Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 gene

L. Viggiano, A. Stella, N. Resta, 2022, Human mutation.

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.

SCE Frequency Measurement Could Be Useful in the Prenatal Diagnosis of Roberts Syndrome

G. Guanti, N. Bukvic, N. Resta, 2007, Twin Research and Human Genetics.

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.

[An enzymatic mechanism which suppresses the toxic effects of isoniazid in vitro].

R. Bagnulo, F. Cedrangolo, A. Gioia, 1953, Enzymologia.

Survey of KRAS, BRAF and PIK3CA mutational status in 209 consecutive Italian colorectal cancer patients

D. Piscitelli, A. Stella, N. Resta, 2012, The International journal of biological markers.

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.

Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies

G. Ferrero, A. Mussa, D. Carli, 2022, Genes, chromosomes & cancer.

Breakpoint determination of 15 large deletions in Peutz–Jeghers subjects

R. Giorda, O. Zuffardi, R. Ciccone, 2010, Human 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.

Tumor-specific hyperactive low-molecular-weight cyclin E isoform detection and characterization in non-metastatic colorectal tumors

C. Simone, M. D. Di Giacomo, G. Guanti, 2006, Cancer biology & therapy.

The association of adrenocortical carcinoma and thyroid cancer in a child with Peutz-Jeghers syndrome.

A. Ciftci, M. Şenocak, N. Resta, 2011, Journal of pediatric surgery.

What Have We Learned from Patients Who Have Arboleda-Tham Syndrome Due to a De Novo KAT6A Pathogenic Variant with Impaired Histone Acetyltransferase Function? A Precise Clinical Description May Be Critical for Genetic Testing Approach and Final Diagnosis

M. De Rinaldis, B. Sadikovic, N. Laforgia, 2023, Genes.

The First Case of Congenital Myasthenic Syndrome Caused by a Large Homozygous Deletion in the C-Terminal Region of COLQ (Collagen Like Tail Subunit of Asymmetric Acetylcholinesterase) Protein

N. Laforgia, O. Palumbo, N. Bukvic, 2020, Genes.

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.

Papillary thyroid carcinoma in Peutz-Jeghers syndrome.

V. Triggiani, C. Sabbà, A. Stella, 2011, Thyroid : official journal of the American Thyroid Association.

Novel splice isoforms of STRADα differentially affect LKB1 activity, complex assembly and subcellular localization.

P. Marignani, C. Simone, G. Guanti, 2007, Cancer biology & therapy.

Sigma-2 Receptor Ligand Binding Modulates Association between TSPO and TMEM97

R. Mach, Mauro Niso, M. Cahill, 2023, International journal of molecular sciences.

Genetic and clinical features of familial mediterranean fever (FMF) in a homogeneous cohort of patients from South-Eastern Italy.

P. Portincasa, G. Lopalco, F. Iannone, 2023, European journal of internal medicine.

Impact of High-to-Moderate Penetrance Genes on Genetic Testing: Looking over Breast Cancer

C. Simone, C. Forleo, N. Bukvic, 2023, Genes.

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 .

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia

M. Genuardi, C. Leoni, G. Zampino, 2019, Clinical 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.