Literature DB >> 14985405

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.

O Caluseriu1, C Di Gregorio, E Lucci-Cordisco, M Santarosa, J Trojan, A Brieger, P Benatti, M Pedroni, T Colibazzi, A Bellacosa, G Neri, M Ponz de Leon, A Viel, M Genuardi.   

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Year:  2004        PMID： 14985405      PMCID： PMC1735717          DOI： 10.1136/jmg.2003.013714

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

1.  Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation.

Authors:  Patrizia Lastella; Margherita Patruno; Giovanna Forte; Alba Montanaro; Carmela Di Gregorio; Carlo Sabbà; Patrizia Suppressa; Adalgisa Piepoli; Anna Panza; Angelo Andriulli; Nicoletta Resta; Alessandro Stella
Journal:  Fam Cancer       Date:  2011-06       Impact factor: 2.375

2.  A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns.

Authors:  Iolanda Borelli; Guido C Casalis Cavalchini; Serena Del Peschio; Monica Micheletti; Tiziana Venesio; Ivana Sarotto; Anna Allavena; Luisa Delsedime; Marco A Barberis; Giorgia Mandrile; Paola Berchialla; Paola Ogliara; Cecilia Bracco; Barbara Pasini
Journal:  Fam Cancer       Date:  2014-09       Impact factor: 2.375

3.  Recurrent and founder mutations in the PMS2 gene.

Authors:  J Tomsic; L Senter; S Liyanarachchi; M Clendenning; C P Vaughn; M A Jenkins; J L Hopper; J Young; W Samowitz; A de la Chapelle
Journal:  Clin Genet       Date:  2012-06-04       Impact factor: 4.438
  3 in total

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