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Scandinavian Journal of Gastroenterology Volume 42, 2007 - Issue 6
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ORIGINAL ARTICLE

Genotype-phenotype correlations in individuals with a founder mutation in the MLH1 gene and hereditary non-polyposis colorectal cancer

Maurizio Ponz De Leon Dipartimento di Medicina Interna, Università di Modena e Reggio Emilia, Modena, ItalyCorrespondence[email protected]
,
Piero Benatti Dipartimento di Medicina Interna, Università di Modena e Reggio Emilia, Modena, Italy
,
Carmela Di Gregorio Divisione di Anatomia Patologica, Ospedale di Carpi, Modena, Italy
,
Lorena Losi Dipartimento di Anatomia Patologica e di Medicina Legale, Università di Modena e Reggio Emilia, Modena, Italy
,
Monica Pedroni Dipartimento di Medicina Interna, Università di Modena e Reggio Emilia, Modena, Italy
,
Giovanni Ponti Dipartimento di Medicina Interna, Università di Modena e Reggio Emilia, Modena, Italy
,
Maurizio Genuardi Divisione di Genetica Medica, Università Cattolica del Sacro Cuore, Rome, Italy
,
Alessandra Viel Divisione di Oncologia Sperimentale 1, Centro di Riferimento Oncologico, Aviano, Italy
,
Emanuela Lucci-Cordisco Divisione di Genetica Medica, Università Cattolica del Sacro Cuore, Rome, Italy
,
Giuseppina Rossi Dipartimento di Medicina Interna, Università di Modena e Reggio Emilia, Modena, Italy
&
Luca Roncucci Dipartimento di Medicina Interna, Università di Modena e Reggio Emilia, Modena, Italy
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Pages 746-753 | Received 28 Jul 2006, Published online: 08 Jul 2009

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Maurizio Ponz de Leon, Monica Pedroni, Annalisa Pezzi, Blerta Sulce, Luca Roncucci, Federica Domati, Giuseppina Rossi & Luca Reggiani Bonetti. (2018) Risk of colorectal polyps and of malignancies in asymptomatic carriers of mutations in the main DNA mismatch repair genes. Scandinavian Journal of Gastroenterology 53:1, pages 31-37.
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Articles from other publishers (9)

Kostas Konstantopoulos & Dimitrios Giakoumettis. 2023. Neuroimaging in Neurogenic Communication Disorders. Neuroimaging in Neurogenic Communication Disorders 467 698 .
G. Ponti, M. Manfredini, A. Tomasi & G. Pellacani. (2016) Muir–Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge. Gene 589:2, pages 127-132.
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Ferdinand Christoph Binkofski, Juliane Klann & Svenja Caspers. 2016. Neurobiology of Language. Neurobiology of Language 35 47 .
G. Ponti, E. Castellsagué, C. Ruini, A. Percesepe & A. Tomasi. (2015) Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome. Clinical Genetics 87:6, pages 507-516.
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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. (2014) A founder MLH1 mutation in Lynch syndrome families from Piedmont, Italy, is associated with an increased risk of pancreatic tumours and diverse immunohistochemical patterns. Familial Cancer 13:3, pages 401-413.
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Christina Therkildsen, Anna Isinger-Ekstrand, Steen Ladelund, Anja Nissen, Eva Rambech, Inge Bernstein & Mef Nilbert. (2012) Cancer risks and immunohistochemical profiles linked to the Danish MLH1 Lynch syndrome founder mutation. Familial Cancer 11:4, pages 579-585.
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WENQIAN WEI, LEI LIU, JIAN CHEN, KE JIN, FAN JIANG, FANGQI LIU, RONG FAN, ZHE CHENG, MENG SHEN, CHENYI XUE, SANJUN CAI, YE XU & PENG NAN. (2011) RACIAL DIFFERENCES IN MLH1 AND MSH2 MUTATION: AN ANALYSIS OF YELLOW RACE AND WHITE RACE BASED ON THE INSIGHT DATABASE. Journal of Bioinformatics and Computational Biology 08:supp01, pages 111-125.
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Sheron Perera, Brian Li, Soultana Tsitsikotas, Lily Ramyar, Aaron Pollett, Kara Semotiuk & Bharati Bapat. (2010) A Novel and Rapid Method of Determining the Effect of Unclassified MLH1 Genetic Variants on Differential Allelic Expression. The Journal of Molecular Diagnostics 12:6, pages 757-764.
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Patrick M. Lynch. (2009) The hMSH2 and hMLH1 Genes in Hereditary Nonpolyposis Colorectal Cancer. Surgical Oncology Clinics of North America 18:4, pages 611-624.
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