Genuardi M - Search Results

1

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Among authors: genuardi m. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.

2

Hereditary nonpolyposis colorectal cancer: review of clinical, molecular genetics, and counseling aspects.

Bellacosa A, Genuardi M, Anti M, Viel A, Ponz de Leon M. Bellacosa A, et al. Among authors: genuardi m. Am J Med Genet. 1996 Apr 24;62(4):353-64. doi: 10.1002/(SICI)1096-8628(19960424)62:4<353::AID-AJMG7>3.0.CO;2-S. Am J Med Genet. 1996. PMID: 8723065 Review.

3

Characterization of MLH1 and MSH2 alternative splicing and its relevance to molecular testing of colorectal cancer susceptibility.

Genuardi M, Viel A, Bonora D, Capozzi E, Bellacosa A, Leonardi F, Valle R, Ventura A, Pedroni M, Boiocchi M, Neri G. Genuardi M, et al. Hum Genet. 1998 Jan;102(1):15-20. doi: 10.1007/s004390050648. Hum Genet. 1998. PMID: 9490293

4

Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer.

Viel A, Novella E, Genuardi M, Capozzi E, Fornasarig M, Pedroni M, Santarosa M, De Leon MP, Della Puppa L, Anti M, Boiocchi M. Viel A, et al. Among authors: genuardi m. Int J Oncol. 1998 Sep;13(3):565-9. doi: 10.3892/ijo.13.3.565. Int J Oncol. 1998. PMID: 9683794

5

Assessment of pathogenicity criteria for constitutional missense mutations of the hereditary nonpolyposis colorectal cancer genes MLH1 and MSH2.

Genuardi M, Carrara S, Anti M, Ponz de Leòn M, Viel A. Genuardi M, et al. Eur J Hum Genet. 1999 Oct-Nov;7(7):778-82. doi: 10.1038/sj.ejhg.5200363. Eur J Hum Genet. 1999. PMID: 10573010

6

Problems in the identification of hereditary nonpolyposis colorectal cancer in two families with late development of full-blown clinical spectrum.

de Leon MP, Benatti P, Pedroni M, Viel A, Genuardi M, Percesepe A, Roncucci L. de Leon MP, et al. Among authors: genuardi m. Am J Gastroenterol. 2000 Aug;95(8):2110-5. doi: 10.1111/j.1572-0241.2000.02163.x. Am J Gastroenterol. 2000. PMID: 10950068

7

Hereditary nonpolyposis colorectal cancer and related conditions.

Lucci-Cordisco E, Zito I, Gensini F, Genuardi M. Lucci-Cordisco E, et al. Among authors: genuardi m. Am J Med Genet A. 2003 Nov 1;122A(4):325-34. doi: 10.1002/ajmg.a.20475. Am J Med Genet A. 2003. PMID: 14518071 Review.

8

Mutations of the 'minor' mismatch repair gene MSH6 in typical and atypical hereditary nonpolyposis colorectal cancer.

Lucci-Cordisco E, Rovella V, Carrara S, Percesepe A, Pedroni M, Bellacosa A, Caluseriu O, Forasarig M, Anti M, Neri G, Ponz de Leon M, Viel A, Genuardi M. Lucci-Cordisco E, et al. Among authors: genuardi m. Fam Cancer. 2001;1(2):93-9. doi: 10.1023/a:1013872914474. Fam Cancer. 2001. PMID: 14574004

9

Genetic testing among high-risk individuals in families with hereditary nonpolyposis colorectal cancer.

Ponz de Leon M, Benatti P, Di Gregorio C, Pedroni M, Losi L, Genuardi M, Viel A, Fornasarig M, Lucci-Cordisco E, Anti M, Ponti G, Borghi F, Lamberti I, Roncucci L. Ponz de Leon M, et al. Among authors: genuardi m. Br J Cancer. 2004 Feb 23;90(4):882-7. doi: 10.1038/sj.bjc.6601529. Br J Cancer. 2004. PMID: 14970868 Free PMC article. Clinical Trial.

10

A founder MLH1 mutation in families from the districts of Modena and Reggio-Emilia in northern Italy with hereditary non-polyposis colorectal cancer associated with protein elongation and instability.

Caluseriu O, Di Gregorio C, Lucci-Cordisco E, Santarosa M, Trojan J, Brieger A, Benatti P, Pedroni M, Colibazzi T, Bellacosa A, Neri G, Ponz de Leon M, Viel A, Genuardi M. Caluseriu O, et al. Among authors: genuardi m. J Med Genet. 2004 Mar;41(3):e34. doi: 10.1136/jmg.2003.013714. J Med Genet. 2004. PMID: 14985405 Free PMC article. No abstract available.

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