Literature DB >> 20512164

Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis.

Stefan Aretz1, Frederik J Hes.   

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Year:  2010        PMID： 20512164      PMCID： PMC2987420          DOI： 10.1038/ejhg.2010.77

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  8 in total

1.  MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay.

Authors:  Sara Molatore; Maria Teresa Russo; Vito G D'Agostino; Flavia Barone; Yoshihiro Matsumoto; Alessandra M Albertini; Anna Minoprio; Paolo Degan; Filomena Mazzei; Margherita Bignami; Guglielmina Nadia Ranzani
Journal:  Hum Mutat       Date:  2010-02       Impact factor: 4.878

2.  Expanded extracolonic tumor spectrum in MUTYH-associated polyposis.

Authors:  Stefanie Vogt; Natalie Jones; Daria Christian; Christoph Engel; Maartje Nielsen; Astrid Kaufmann; Verena Steinke; Hans F Vasen; Peter Propping; Julian R Sampson; Frederik J Hes; Stefan Aretz
Journal:  Gastroenterology       Date:  2009-09-02       Impact factor: 22.682

3.  Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.

Authors:  Maartje Nielsen; Mirjam C Joerink-van de Beld; Natalie Jones; Stefanie Vogt; Carli M Tops; Hans F A Vasen; Julian R Sampson; Stefan Aretz; Frederik J Hes
Journal:  Gastroenterology       Date:  2008-10-30       Impact factor: 22.682

4.  MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.

Authors:  Stefan Aretz; Siegfried Uhlhaas; Heike Goergens; Kirsten Siberg; Matthias Vogel; Constanze Pagenstecher; Elisabeth Mangold; Reiner Caspari; Peter Propping; Waltraut Friedl
Journal:  Int J Cancer       Date:  2006-08-15       Impact factor: 7.396

5.  Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis.

Authors:  Karam S Boparai; Evelien Dekker; Susanne Van Eeden; Mirjam M Polak; Joep F W M Bartelsman; Elisbeth M H Mathus-Vliegen; Josbert J Keller; Carel J M van Noesel
Journal:  Gastroenterology       Date:  2008-09-20       Impact factor: 22.682

6.  Germline MutY human homologue mutations and colorectal cancer: a multisite case-control study.

Authors:  Sean P Cleary; Michelle Cotterchio; Mark A Jenkins; Hyeja Kim; Robert Bristow; Roger Green; Robert Haile; John L Hopper; Loic LeMarchand; Noralane Lindor; Patrick Parfrey; John Potter; Ban Younghusband; Steven Gallinger
Journal:  Gastroenterology       Date:  2008-12-27       Impact factor: 22.682

Review 7.  MUTYH-associated polyposis.

Authors:  Julian R Sampson; Natalie Jones
Journal:  Best Pract Res Clin Gastroenterol       Date:  2009       Impact factor: 3.043

8.  MUTYH Associated Polyposis (MAP).

Authors:  M L M Poulsen; M L Bisgaard
Journal:  Curr Genomics       Date:  2008-09       Impact factor: 2.236
  8 in total
  6 in total

1.  Clinical utility gene card for: familial adenomatous polyposis (FAP) and attenuated FAP (AFAP).

Authors:  Stefan Aretz; Hans F A Vasen; Sylviane Olschwang
Journal:  Eur J Hum Genet       Date:  2011-02-02       Impact factor: 4.246

2.  Breakpoint characterization of a novel large intragenic deletion of MUTYH detected in a MAP patient: case report.

Authors:  Giovana T Torrezan; Felipe C C da Silva; Ana C V Krepischi; Érika M M Santos; Fábio de O Ferreira; Benedito M Rossi; Dirce M Carraro
Journal:  BMC Med Genet       Date:  2011-09-30       Impact factor: 2.103

3.  A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Chinese family with familial adenomatous coli.

Authors:  Shan-Shan Jiang; Jian-Jun Li; Yin Li; Long-Jun He; Qi-Jing Wang; D Sheng Weng; Ke Pan; Qing Liu; Jing-Jing Zhao; Qiu-Zhong Pan; Xiao-Fei Zhang; Yan Tang; Chang-Long Chen; Hong-Xia Zhang; Guo-Liang Xu; Yi-Xin Zeng; Jian-Chuan Xia
Journal:  Oncotarget       Date:  2015-09-29

4.  A novel pathogenic large germline deletion in adenomatous polyposis coli gene in a Chinese family with familial adenomatous polyposis.

Authors:  Zhao Zhang; Shengran Liang; Hui Huang; Dan Wang; Xipeng Zhang; Jing Wu; Huishuang Chen; Yanyan Wang; Tingting Rong; Yulin Zhou; Santasree Banerjee
Journal:  Oncotarget       Date:  2016-08-02

5.  A novel pathogenic single nucleotide germline deletion in APC gene in a four generation Chinese family with familial adenomatous polyposis.

Authors:  Zhao Zhang; Shengyun Liang; Dan Wang; Shengran Liang; Yuwei Li; Bingjie Wang; Tao Jiang; Guoru Zhao; Xipeng Zhang; Santasree Banerjee
Journal:  Sci Rep       Date:  2017-09-27       Impact factor: 4.379

6.  A novel pathogenic splice acceptor site germline mutation in intron 14 of the APC gene in a Chinese family with familial adenomatous polyposis.

Authors:  Dan Wang; Shengyun Liang; Zhao Zhang; Guoru Zhao; Yuan Hu; Shengran Liang; Xipeng Zhang; Santasree Banerjee
Journal:  Oncotarget       Date:  2017-03-28
  6 in total

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