Literature DB >> 21815886

First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome.

E Rouleau1, H Zattara, C Lefol, T Noguchi, A Briaux, B Buecher, V Bourdon, H Sobol, R Lidereau, S Olschwang.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21815886     DOI： 10.1111/j.1399-0004.2011.01699.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


× No keyword cloud information.
  8 in total

1.  Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study.

Authors:  Maria Teresa Ricci; Sara Miccoli; Daniela Turchetti; Davide Bondavalli; Alessandra Viel; Michele Quaia; Elisa Giacomini; Viviana Gismondi; Lupe Sanchez-Mete; Vittoria Stigliano; Aline Martayan; Filomena Mazzei; Margherita Bignami; Luigina Bonelli; Liliana Varesco
Journal:  J Hum Genet       Date:  2016-11-10       Impact factor: 3.172

2.  Mutation Spectrum of Familial Adenomatous Polyposis Patients in Turkish Population: Identification of 3 Novel APC Mutations.

Authors:  Esra Arslan Ateş; Ceren Alavanda; Şenol Demir; Çağlayan Keklikkıran; Wafi Attaallah; Osman Cavit Özdoğan; Ahmet İlter Güney
Journal:  Turk J Gastroenterol       Date:  2022-02       Impact factor: 1.555

3.  MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors.

Authors:  Tiziana Venesio; Antonella Balsamo; Vito G D'Agostino; Guglielmina N Ranzani
Journal:  Front Oncol       Date:  2012-08-02       Impact factor: 6.244

4.  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

5.  APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation.

Authors:  Giovanna D'Elia; Gemma Caliendo; Amelia Casamassimi; Michele Cioffi; Anna Maria Molinari; Maria Teresa Vietri
Journal:  Genes (Basel)       Date:  2018-06-27       Impact factor: 4.096

6.  Mutational spectrum of the APC and MUTYH genes and genotype-phenotype correlations in Brazilian FAP, AFAP, and MAP patients.

Authors:  Giovana Tardin Torrezan; Felipe Cavalcanti Carneiro da Silva; Erika Maria Monteiro Santos; Ana Cristina Victorino Krepischi; Maria Isabel Waddington Achatz; Samuel Aguiar; Benedito Mauro Rossi; Dirce Maria Carraro
Journal:  Orphanet J Rare Dis       Date:  2013-04-05       Impact factor: 4.123

Review 7.  MUTYH the base excision repair gene family member associated with colorectal cancer polyposis.

Authors:  Seyed Mohammad Hossein Kashfi; Mina Golmohammadi; Faeghe Behboudi; Ehsan Nazemalhosseini-Mojarad; Mohammad Reza Zali
Journal:  Gastroenterol Hepatol Bed Bench       Date:  2013

8.  Spectrum of germline cancer susceptibility gene mutations in Turkish colorectal cancer patients: a single center study

Authors:  Haktan Bağiş Erdem; Taha Bahsi
Journal:  Turk J Med Sci       Date:  2020-06-23       Impact factor: 0.973
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.