Antonella Maffe
Cuneo, 12100, Italy
Last Updated: 09/26/2026
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Found 10 publications
Non-Small Cell Lung Cancer Testing on Reference Specimens: An Italian Multicenter Experience.
Journal: Oncology and therapy
Published: September 08, 2023
Update of penetrance estimates in Birt-Hogg-Dubé syndrome.
Journal: Journal of medical genetics
Published: December 09, 2022
Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience.
Journal: Diagnostics (Basel, Switzerland)
Published: May 09, 2022
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
Journal: Molecular genetics & genomic medicine
Published: March 26, 2021
Sensitivity to asbestos is increased in patients with mesothelioma and pathogenic germline variants in BAP1 or other DNA repair genes.
Journal: Genes, chromosomes & cancer
Published: February 05, 2018
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
Journal: Clinical genetics
Published: January 23, 2017
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma.
Journal: Cancer letters
Published: March 21, 2016
Primary hyperparathyroidism and Klinefelter's syndrome in a young man.
Journal: Endocrinology, diabetes & metabolism case reports
Published: February 16, 2015
Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype.
Journal: Clinical genetics
Published: September 30, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026