Literature DB >> 21368914

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

Stefan Aretz1, Hans F A Vasen, Sylviane Olschwang.   

Abstract

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Year:  2011        PMID： 21368914      PMCID： PMC3137508          DOI： 10.1038/ejhg.2011.7

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


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  11 in total

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

Authors:  Stefan Aretz; Frederik J Hes
Journal:  Eur J Hum Genet       Date:  2010-05-26       Impact factor: 4.246

2.  Clinical utility gene card for: Lynch syndrome (MLH1, MSH2, MSH6, PMS2).

Authors:  Nils Rahner; Verena Steinke; Brigitte Schlegelberger; Sylviane Olschwang; François Eisinger; Pierre Hutter
Journal:  Eur J Hum Genet       Date:  2010-01-27       Impact factor: 4.246

3.  Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.

Authors:  Arnaud Lagarde; Etienne Rouleau; Anthony Ferrari; Tetsuro Noguchi; Jinghua Qiu; Adrien Briaux; Violaine Bourdon; Virginie Rémy; Pascaline Gaildrat; José Adélaïde; Daniel Birnbaum; Rosette Lidereau; Hagay Sobol; Sylviane Olschwang
Journal:  J Med Genet       Date:  2010-08-03       Impact factor: 6.318

Review 4.  Familial adenomatous polyposis.

Authors:  Polymnia Galiatsatos; William D Foulkes
Journal:  Am J Gastroenterol       Date:  2006-02       Impact factor: 10.864

5.  Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate.

Authors:  M L Bisgaard; K Fenger; S Bülow; E Niebuhr; J Mohr
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878

6.  Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Authors:  Waltraut Friedl; Stefan Aretz
Journal:  Hered Cancer Clin Pract       Date:  2005-09-15       Impact factor: 2.857

7.  Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

Authors:  Stefan Aretz; Dietlinde Stienen; Nicolaus Friedrichs; Susanne Stemmler; Siegfried Uhlhaas; Nils Rahner; Peter Propping; Waltraut Friedl
Journal:  Hum Mutat       Date:  2007-10       Impact factor: 4.878

Review 8.  Attenuated familial adenomatous polyposis (AFAP). A review of the literature.

Authors:  Anne Lyster Knudsen; Marie Luise Bisgaard; Steffen Bülow
Journal:  Fam Cancer       Date:  2003       Impact factor: 2.375

9.  The incidence rate of familial adenomatous polyposis. Results from the Danish Polyposis Register.

Authors:  S Bülow; T Faurschou Nielsen; C Bülow; M L Bisgaard; L Karlsen; F Moesgaard
Journal:  Int J Colorectal Dis       Date:  1996       Impact factor: 2.571

10.  Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis.

Authors:  Stefan Aretz; Siegfried Uhlhaas; Reiner Caspari; Elisabeth Mangold; Constanze Pagenstecher; Peter Propping; Waltraut Friedl
Journal:  Eur J Hum Genet       Date:  2004-01       Impact factor: 4.246
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  5 in total

1.  Prophylactic surgery in familial adenomatous polyposis (FAP)--a single surgeon's short- and long-term experience with hand-assisted proctocolectomy and smaller J-pouches.

Authors:  Ralph Schneider; Claudia Schneider; Anne Dalchow; Christian Jakobeit; Gabriela Möslein
Journal:  Int J Colorectal Dis       Date:  2015-05-03       Impact factor: 2.571

Review 2.  Surgical considerations in FAP-related pouch surgery: Could we do better?

Authors:  Gabriela Möslein
Journal:  Fam Cancer       Date:  2016-07       Impact factor: 2.375

3.  Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations.

Authors:  Dai-Xiang Liao; Bing Li; Xue-Mei Du; Jun-Hui Yu; Hong Chang; Zhi-Qiang Wu; Hao-Jie Hao; You-Xin Wang; Wei-Dong Han; Shu-Jun Cheng; Cheng-Hua Luo
Journal:  Fam Cancer       Date:  2014-09       Impact factor: 2.375

4.  Two Metachronous Neoplasms in the Radiotherapy Fields of a Young Man With Familial Adenomatous Polyposis.

Authors:  Patrick A Williams; Feriyl Bhaijee; Luminita Rezeanu; Robert D Hamilton; Srinivasan Vijayakumar
Journal:  J Investig Med High Impact Case Rep       Date:  2013-04-01

Review 5.  Oxidative Stress and Carbonyl Lesions in Ulcerative Colitis and Associated Colorectal Cancer.

Authors:  Zhiqi Wang; Sai Li; Yu Cao; Xuefei Tian; Rong Zeng; Duan-Fang Liao; Deliang Cao
Journal:  Oxid Med Cell Longev       Date:  2015-12-28       Impact factor: 6.543
  5 in total

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