L. Balestrino

MUTYH-associated colon disease: adenomatous polyposis is only one of the possible phenotypes. A family report and literature review.

G. Casula, A. Restivo, G. Fantola, 2011, Tumori.

MUTYH-associated colon disease: Adenomatous polyposis is only one of the possible phenotypes. A family report and literature review

G. Casula, A. Restivo, G. Fantola, 2011 .

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin

C. Carcassi, B. Pasini, P. Sala, 2012, European Journal of Human Genetics.

Genetic Creutzfeldt-Jakob disease in Sardinia: a case series linked to the PRNP R208H mutation due to a single founder effect

G. Defazio, G. Cossu, Piero Parchi, 2020, neurogenetics.

A genetic epidemiology study of congenital adrenal hyperplasia in Italy

C. Carcassi, S. Mariotti, S. Loche, 2018, Clinical genetics.

Detection of Germline Variants in 450 Breast/Ovarian Cancer Families with a Multi-Gene Panel Including Coding and Regulatory Regions

S. Tommasi, A. Galli, T. Cervelli, 2021, International journal of molecular sciences.

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Eliseos J. Mucaki, F. Couch, B. Bonanni, 2015, Human molecular genetics.