Angela V. D'elia - Publications

Application of novel algorithm on a retrospective series to implement the molecular classification for endometrial cancer.

Journal: European journal of surgical oncology : the journal of the European Society of Surgical Oncology and the British Association of Surgical Oncology

Published: April 21, 2024

The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.

Journal: Clinical genetics

Published: March 20, 2024

A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.

Journal: Journal of human genetics

Published: November 20, 2023

Filamin C (FLNC) truncating mutation in a fatal arrhythmogenic left ventricular cardiomyopathy (ALVC).

Journal: Legal medicine (Tokyo, Japan)

Published: November 11, 2023

Alkali-Activated Binary Binders with Carbonate-Rich Illitic Clay.

Journal: Polymers

Published: October 21, 2022

Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Journal: Molecular genetics & genomic medicine

Published: February 19, 2020

Characterization of ANGPT2 mutations associated with primary lymphedema.

Journal: Science translational medicine

Published: April 24, 2019

Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype.

Journal: Molecular genetics & genomic medicine

Published: November 14, 2018

Heart transplantation in Danon disease: Long term single centre experience and review of the literature.

Journal: European journal of medical genetics

Published: September 11, 2018

A CGH array procedure to detect PAX6 gene structural defects.

Journal: Molecular and cellular probes

Published: October 07, 2016

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.

Journal: BMC medical genetics

Published: March 19, 2015

Italian Association of Clinical Endocrinologists (AME) position statement: a stepwise clinical approach to the diagnosis of gastroenteropancreatic neuroendocrine neoplasms.

Journal: Journal of endocrinological investigation

Published: February 10, 2014