Sabina Maria Bruno | Ricerc@Sapienza

Pubblicazioni

Titolo	Pubblicato in	Anno
Sperm DNA Fragmentation and Sperm-Borne miRNAs: Molecular Biomarkers of Embryo Development?	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2023
L1077P CFTR pathogenic variant function rescue by Elexacaftor-Tezacaftor-Ivacaftor in cystic fibrosis patient-derived air-liquid interface (ALI) cultures and organoids: in vitro guided personalized therapy of non-F508del patients	RESPIRATORY RESEARCH	2023
Characteristic Hallmarks of Aging and the Impact on Carcinogenesis	CURRENT CANCER DRUG TARGETS	2022
Quantitative evaluation of CFTR pre-mRNA splicing dependent on the (TG)mTn poly-variant tract	DIAGNOSTICS	2021
DNA methylation patterns correlate with the expression of SCNN1A, SCNN1B, and SCNN1G (Epithelial sodium channel, ENaC) genes	INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES	2021
Theratyping cystic fibrosis in vitro in ALI culture and organoid models generated from patient-derived nasal epithelial conditionally reprogrammed stem cells	EUROPEAN RESPIRATORY JOURNAL	2021
CRMS/CFSPID subjects carrying D1152H CFTR variant: can the second variant be a predictor of disease development?	DIAGNOSTICS	2020
A new targeted CFTR mutation panel based on next-generation sequencing technology	THE JOURNAL OF MOLECULAR DIAGNOSTICS	2017
The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis.	THE JOURNAL OF MOLECULAR DIAGNOSTICS	2016
A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation	FRONTIERS IN NEUROLOGY	2016
Alcohol Dependence and Serotonin Transporter Functional Polymorphisms 5-HTTLPR and rs25531 in an Italian Population.	ALCOHOL AND ALCOHOLISM	2015
A Genotypic-oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macro-categories of Cystic Fibrosis.	MOLECULAR MEDICINE	2015