Literature DB >> 15235030

A genotype-phenotype correlation in HNPCC: strong predominance of msh2 mutations in 41 patients with Muir-Torre syndrome.

E Mangold, C Pagenstecher, M Leister, M Mathiak, A Rütten, W Friedl, P Propping, T Ruzicka, R Kruse.   

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Year:  2004        PMID： 15235030      PMCID： PMC1735835          DOI： 10.1136/jmg.2003.012997

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


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  29 in total

1.  An individual with Muir-Torre syndrome found to have a pathogenic MSH6 gene mutation.

Authors:  Angela Arnold; Stewart Payne; Samantha Fisher; Diane Fricker; Judith Soloway; Susan M White; Marco Novelli; Kylie MacDonald; James Mackay; Richard Groves; Natalie Canham
Journal:  Fam Cancer       Date:  2007-02-24       Impact factor: 2.375

2.  Muir-Torre Syndrome: expanding the genotype and phenotype--a further family with a MSH6 mutation.

Authors:  H R Murphy; R Armstrong; D Cairns; K L Greenhalgh
Journal:  Fam Cancer       Date:  2008-01-31       Impact factor: 2.375

Review 3.  Sebaceous neoplasia and the Muir-Torre syndrome: important connections with clinical implications.

Authors:  Sara C Shalin; Stephen Lyle; Eduardo Calonje; Alexander J F Lazar
Journal:  Histopathology       Date:  2010-01       Impact factor: 5.087

4.  p53 staining correlates with tumor type and location in sebaceous neoplasms.

Authors:  Sara C Shalin; Aniket Sakharpe; Stephen Lyle; Dina Lev; Eduardo Calonje; Alexander J Lazar
Journal:  Am J Dermatopathol       Date:  2012-04       Impact factor: 1.533

Review 5.  Lynch syndrome genes.

Authors:  Päivi Peltomäki
Journal:  Fam Cancer       Date:  2005       Impact factor: 2.375

6.  Clinical phenotype and prevalence of hereditary nonpolyposis colorectal cancer syndrome in Chinese population.

Authors:  Yuan-Zhi Zhang; Jian-Qiu Sheng; Shi-Rong Li; Hong Zhang
Journal:  World J Gastroenterol       Date:  2005-03-14       Impact factor: 5.742

7.  A case of Muir-Torre syndrome associated with mucinous hepatic cholangiocarcinoma and a novel germline mutation of the MSH2 gene.

Authors:  M Vernez; P Hutter; C Monnerat; N Halkic; O Gugerli; H Bouzourene
Journal:  Fam Cancer       Date:  2007       Impact factor: 2.375

8.  Muir-Torre Syndrome: A Case Associated with an Infrequent Gene Mutation.

Authors:  Alexandra Grob; Christina Feser; Steven Grekin
Journal:  J Clin Aesthet Dermatol       Date:  2016-01

Review 9.  Parotid Sebaceous Carcinoma in Patient with Muir Torre Syndrome, Caused by MSH2 Mutation.

Authors:  Iyer Vishwas Neelakantan; Silvana Di Palma; C E T Smith; A McCoombe
Journal:  Head Neck Pathol       Date:  2015-11-17

10.  Sebaceous neoplasia and Torre-Muir syndrome.

Authors:  A J F Lazar; S Lyle; E Calonje
Journal:  Curr Diagn Pathol       Date:  2007-08
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