Giada Tortora
Ancona, Italy
Last Updated: 09/26/2026
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Found 13 publications
Care pathway for the diagnosis and management of patients with hypertrophic phenotype in the Marche Region: the experience of the Marche Cardiomyopathies Network
Journal: Giornale italiano di cardiologia (2006)
Published: August 26, 2026
Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer.
Journal: Breast (Edinburgh, Scotland)
Published: September 15, 2025
MYBPC3 c.2309-2A>G: exploring a founder variant in Italian hypertrophic cardiomyopathy patients.
Journal: European journal of human genetics : EJHG
Published: December 31, 2024
Advancing diagnosis in a cardiac arrest case and suspected MINOCA: the complementary roles of imaging, biopsy, and genetic testing.
Journal: European heart journal. Imaging methods and practice
Published: October 08, 2024
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy.
Journal: Journal of molecular and cellular cardiology
Published: June 19, 2024
Marfan and Loeys-Dietz aortic phenotype: A potential tool for diagnosis and management.
Journal: JTCVS open
Published: October 16, 2023
Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study).
Journal: Prenatal diagnosis
Published: August 05, 2022
When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 07, 2020
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Journal: Human mutation
Published: August 22, 2017
Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role.
Journal: Interactive cardiovascular and thoracic surgery
Published: October 20, 2016
Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature.
Journal: Journal of dermatological science
Published: August 12, 2015
Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients.
Journal: EMBO molecular medicine
Published: April 17, 2014
Last Updated: 09/26/2026