Breast cancer susceptibility variants frequently show heterogeneity in associations by tumor
subtype 1 , 2 – 3 . To identify novel loci, we performed a genome-wide association study …

… Davide Bondavalli; Davide Bondavalli …

Background Birt-Hogg-Dubé (BHD) syndrome is a rare genetic syndrome caused by pathogenic
or likely pathogenic germline variants in the FLCN gene. Patients with BHD syndrome …

To determine prevalence, spectrum and genotype–phenotype correlations of MUTYH variants
in Italian patients with suspected MAP (MUTYH-associated polyposis), a retrospective …

Simple Summary The Italian population is characterized by a high genetic heterogeneity mostly
due to its long history of migration and colonization and to its geographical conformation. …

We report on a child with two cardiac rhabdomyomas. Initially, a diagnosis of Tuberous
Sclerosis Complex (TSC) syndrome was suspected, although this could neither be confirmed …

Mal de M eleda is a rare autosomal recessive genodermatosis caused by mutations in the
ARS B ( SLURP 1) gene, with possible founder effects in the M editerranean and A driatic …

In the ESC 2023 guidelines, cardiomyopathies are conservatively defined as ‘myocardial
disorders in which the heart muscle is structurally and functionally abnormal, in the absence of …

The tongue's physiological complexity and hidden location inside the oral cavity, limit our
ability to quantify its fast and dynamic motions. Our team has developed a discreet wireless …

The present case report discusses a woman affected by chronic lymphatic leukemia and
breast cancer with a familial history of breast cancer; suspected to be hereditary breast and …