Maria Piane | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Somatic NGS Analysis of DNA Damage Response (DDR) Genes ATM, MRE11A, RAD50, NBN, and ATR in Locally Advanced Rectal Cancer Treated with Neoadjuvant Chemo-Radiotherapy	BIOMEDICINES	2022
Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?	DIAGNOSTICS	2022
TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report	MOLECULAR GENETICS AND METABOLISM REPORTS	2021
Altered NK-cell compartment and dysfunctional NKG2D/NKG2D-ligand axis in patients with ataxia-telangiectasia	CLINICAL IMMUNOLOGY	2021
Genotype-Phenotype Correlations in Monogenic Parkinson Disease. A Review on Clinical and Molecular Findings	FRONTIERS IN NEUROLOGY	2021
Rna sequencing of primary cutaneous and breast-implant associated anaplastic large cell lymphomas reveals infrequent fusion transcripts and upregulation of PI3K/AKT signaling via neurotrophin pathway genes	CANCERS	2021
Risk stratification in hypertrophic cardiomyopathy. Insights from genetic analysis and cardiopulmonary exercise testing	JOURNAL OF CLINICAL MEDICINE	2020
Beyond BRCA1 and BRCA2: deleterious variants in DNA repair pathway genes in italian families with breast/ovarian and pancreatic cancers	JOURNAL OF CLINICAL MEDICINE	2020
Modulation of hypersensitivity to oxidative DNA damage in ATM defective cells induced by potassium bromate by inhibition of the poly (ADP-ribose) polymerase (PARP)	MUTATION RESEARCH. GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS	2018
Genetic Testing and Clinical Management Practices for Variants in Non-BRCA1/2 Breast (and Breast/Ovarian) Cancer Susceptibility Genes. An International Survey by the Evidence-Based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Clinical Working Group	JCO PRECISION ONCOLOGY	2018
A next-generation sequencing approach to identify gene mutations in early-and late-onset hypertrophic cardiomyopathy patients of an Italian cohort	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2016
Novel compound heterozygous mutations in a child with Ataxia-Telangiectasia showing unrelated cerebellar disorders	JOURNAL OF THE NEUROLOGICAL SCIENCES	2016