Genetic insights into familial tumors of the nervous systemMELEAN, German; SESTINI, Roberta; AMMANNATI, Franco et al.American journal of medical genetics. 2004, Vol 129C, Num 1, pp 74-84, issn 0148-7299, 11 p.Article

MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated PolyposisPIN, Elisa; PASTRELLO, Chiara; MAESTRO, Roberta et al.International journal of cancer (Print). 2013, Vol 132, Num 5, pp 1060-1069, issn 0020-7136, 10 p.Article

A kindred with MYH-associated polyposis and pilomatricomasBAGLIONI, Silvana; MELEAN, German; GENSINI, Francesca et al.American journal of medical genetics. 2005, Vol 134A, Num 2, pp 212-214, issn 0148-7299, 3 p.Article

Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central ItalyPAPI, Laura; PUTIGNANO, Anna Laura; GENUARDI, Maurizio et al.Breast cancer research and treatment. 2009, Vol 117, Num 3, pp 497-504, issn 0167-6806, 8 p.Article

Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutationBACCI, Costanza; SESTINI, Roberta; PROVENZANO, Aldesia et al.Neurogenetics (Oxford. Print). 2010, Vol 11, Num 1, pp 73-80, issn 1364-6745, 8 p.Article

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 geneSESTINI, Roberta; VIVARELLI, Rossella; BALESTRI, Paolo et al.Human genetics. 2000, Vol 107, Num 4, pp 366-371, issn 0340-6717Article

Genetic Variation at 9p22.2 and Ovarian Cancer Risk for BRCA1 and BRCA2 Mutation CarriersRAMUS, Susan J; KARTSONAKI, Christiana; XIANSHU WANG et al.Journal of the National Cancer Institute. 2011, Vol 103, Num 2, pp 105-116, issn 0027-8874, 12 p.Article

The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriersCATUCCI, Irene; VERDERIO, Paolo; VIEL, Alessandra et al.Breast cancer research and treatment. 2011, Vol 125, Num 3, pp 855-860, issn 0167-6806, 6 p.Article

PALB2 mutations in male breast cancer: a population-based study in Central ItalySILVESTRI, Valentina; RIZZOLO, Piera; ZANNA, Ines et al.Breast cancer research and treatment. 2010, Vol 122, Num 1, pp 299-301, issn 0167-6806, 3 p.Article

Interleukin-10 promoter polymorphisms influence susceptibility to ulcerative colitis in a gender-specific mannerTEDDE, Andrea; LAURA PUTIGNANO, Anna; BAGNOLI, Siro et al.Scandinavian journal of gastroenterology. 2008, Vol 43, Num 6, pp 712-718, issn 0036-5521, 7 p.Article

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGHBRUDER, Carl E. G; HIRVELÄ, Carina; ZUCMAN-ROSSI, Jessica et al.Human molecular genetics (Print). 2001, Vol 10, Num 3, pp 271-282, issn 0964-6906Article

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47ANDERSON, Carl A; BOUCHER, Gabrielle; LAGACE, Caroline et al.Nature genetics. 2011, Vol 43, Num 3, pp 246-252, issn 1061-4036, 7 p.Article

Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletionPASTRELLO, Chiara; BAGLIONI, Silvana; TIBILETTI, Maria Grazia et al.European journal of human genetics. 2006, Vol 14, Num 1, pp 63-68, issn 1018-4813, 6 p.Article

Relationships between promoter polymorphisms in the thymidylate synthase gene and mRNA levels in colorectal cancersMORGANTI, Maria; CIANTELLI, Monica; BODDI, Vieri et al.European journal of cancer (1990). 2005, Vol 41, Num 14, pp 2176-2183, issn 0959-8049, 8 p.Article

Premature ovarian failure and fragile X premutation: a study on 45 womenBUSSANI, Cecilia; PAPI, Laura; SESTINI, Roberta et al.European journal of obstetrics, gynecology, and reproductive biology. 2004, Vol 112, Num 2, pp 189-191, issn 0301-2115, 3 p.Article

High-resolution profiling of an 11 Mb segment of human chromosome 22 in sporadic schwannoma using array-CGHMANTRIPRAGADA, Kiran K; BUCKLEY, Patrick G; PAPI, Laura et al.International journal of oncology. 2003, Vol 22, Num 3, pp 615-622, issn 1019-6439, 8 p.Article