Literature DB >> 15689459

Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis.

S Aretz, D Stienen, S Uhlhaas, C Pagenstecher, E Mangold, R Caspari, P Propping, W Friedl.   

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Year:  2005        PMID： 15689459      PMCID： PMC1736002          DOI： 10.1136/jmg.2004.022822

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


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  32 in total

1.  APC rearrangements in familial adenomatous polyposis: heterogeneity of deletion lengths and breakpoint sequences underlies similar phenotypes.

Authors:  Marialuisa Quadri; Annalisa Vetro; Viviana Gismondi; Monica Marabelli; Lucio Bertario; Paola Sala; Liliana Varesco; Orsetta Zuffardi; Guglielmina N Ranzani
Journal:  Fam Cancer       Date:  2015-03       Impact factor: 2.375

2.  A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplification.

Authors:  Constanze Pagenstecher; Dorothea Gadzicki; Dietlinde Stienen; Siegfried Uhlhaas; Elisabeth Mangold; Nils Rahner; Mine Arslan-Kirchner; Peter Propping; Waltraut Friedl; Stefan Aretz
Journal:  J Mol Diagn       Date:  2007-02       Impact factor: 5.568

3.  HD chromoendoscopy coupled with DNA mass spectrometry profiling identifies somatic mutations in microdissected human proximal aberrant crypt foci.

Authors:  David A Drew; Thomas J Devers; Michael J O'Brien; Nicole A Horelik; Joel Levine; Daniel W Rosenberg
Journal:  Mol Cancer Res       Date:  2014-03-20       Impact factor: 5.852

4.  Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis.

Authors:  Ronja Adam; Isabel Spier; Bixiao Zhao; Michael Kloth; Jonathan Marquez; Inga Hinrichsen; Jutta Kirfel; Aylar Tafazzoli; Sukanya Horpaopan; Siegfried Uhlhaas; Dietlinde Stienen; Nicolaus Friedrichs; Janine Altmüller; Andreas Laner; Stefanie Holzapfel; Sophia Peters; Katrin Kayser; Holger Thiele; Elke Holinski-Feder; Giancarlo Marra; Glen Kristiansen; Markus M Nöthen; Reinhard Büttner; Gabriela Möslein; Regina C Betz; Angela Brieger; Richard P Lifton; Stefan Aretz
Journal:  Am J Hum Genet       Date:  2016-07-28       Impact factor: 11.025

Review 5.  Genetic predisposition to colorectal cancer: where we stand and future perspectives.

Authors:  Laura Valle
Journal:  World J Gastroenterol       Date:  2014-08-07       Impact factor: 5.742

6.  High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.

Authors:  S Aretz; D Stienen; S Uhlhaas; M Stolte; M M Entius; S Loff; W Back; A Kaufmann; K-M Keller; S H Blaas; R Siebert; S Vogt; S Spranger; E Holinski-Feder; L Sunde; P Propping; W Friedl
Journal:  J Med Genet       Date:  2007-09-14       Impact factor: 6.318

7.  A large novel deletion in the APC promoter region causes gene silencing and leads to classical familial adenomatous polyposis in a Manitoba Mennonite kindred.

Authors:  George S Charames; Lily Ramyar; Angela Mitri; Terri Berk; Hong Cheng; Jack Jung; Patricia Bocangel; Bernie Chodirker; Cheryl Greenberg; Elizabeth Spriggs; Bharati Bapat
Journal:  Hum Genet       Date:  2008-11-04       Impact factor: 4.132

8.  Copy number variations and cancer.

Authors:  Adam Shlien; David Malkin
Journal:  Genome Med       Date:  2009-06-16       Impact factor: 11.117

9.  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

10.  Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

Authors:  Nuria Gómez-Fernández; Sergi Castellví-Bel; Ceres Fernández-Rozadilla; Francesc Balaguer; Jenifer Muñoz; Irene Madrigal; Montserrat Milà; Begoña Graña; Ana Vega; Antoni Castells; Angel Carracedo; Clara Ruiz-Ponte
Journal:  BMC Med Genet       Date:  2009-06-16       Impact factor: 2.103
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