Camilla Savio

发表

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.

D. Delia, L. Chessa, G. Buscemi, 2004, Human molecular genetics.

Beyond BRCA1 and BRCA2: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers

A. Pizzuti, C. Capalbo, M. Torrisi, 2020, Journal of clinical medicine.

Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing

C. Autore, A. Maruotti, M. Volpe, 2020, Journal of clinical medicine.

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

C. Autore, L. Chessa, M. Volpe, 2016, International journal of molecular sciences.

Founder Effects for ATM Gene Mutations in Italian Ataxia Telangiectasia Families

B. Dallapiccola, L. Chessa, I. Torrente, 2009, Annals of human genetics.

Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?

S. Sciacchitano, M. Fabiani, B. Torres, 2022, Diagnostics.

TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report

C. Autore, M. Torrisi, S. Rubattu, 2021, Molecular genetics and metabolism reports.

Chk2 Activation Dependence on Nbs1 after DNA Damage

K. Khanna, M. Nakanishi, D. Delia, 2001, Molecular and Cellular Biology.

A structural characterization of in situ chromatin on cell lines isolated from patients affected by ataxia telangiectasia.

C. Nicolini, L. Vergani, L. Chessa, 2003, International journal of biological macromolecules.

DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations

B. Dallapiccola, L. Chessa, I. Torrente, 2006, Disease markers.

Heterozygous Pathogenic Nonsense ATM Variant Resulting in Unusually High Gastric Cancer Susceptibility

A. Pizzuti, G. Mastromoro, M. Piane, 2021 .

Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?

C. Autore, A. Pizzuti, M. Volpe, 2023, Frontiers in Cardiovascular Medicine.

A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy

C. Autore, A. Pizzuti, M. Fabiani, 2023, Current issues in molecular biology.

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

A. Pizzuti, G. Mastromoro, M. Piane, 2023, Biomedicines.

A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome

R. Mancini, A. Pizzuti, G. Di Nardo, 2022, Diagnostics.

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II

G. Pesole, G. Scarano, E. Sbisà, 2023, International journal of molecular sciences.

The role of genetic testing in suspected fulminant myocarditis: A case report

C. Autore, A. Pizzuti, M. Fabiani, 2023, Molecular genetics and metabolism reports.

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia

L. Chessa, M. Masciullo, G. Silvestri, 2010, Journal of Neurology.

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review

M. Fabiani, M. Piane, V. Visco, 2024, International Journal of Molecular Sciences.

Molecular Features of HHV8 Monoclonal Microlymphoma Associated with Kaposi Sarcoma and Multicentric Castleman Disease in an HIV-Negative Patient

A. Di Napoli, I. Della Starza, Gianluca Lopez, 2024, International journal of molecular sciences.