C. Vivanet

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.

Aesthetic complaints as clue to Pseudoxanthoma elasticum

C. Ferreli, L. Atzori, S. Sanna, 2015 .

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.

Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: a retrospective study in a sample of Italian cancer genetics clinics.

P. Radice, P. Bruzzi, A. Viel, 2013, Breast.

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.

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.