Literature DB >> 25248397

Clinical Utility Gene Card for: Familial adenomatous polyposis (FAP) and attenuated FAP (AFAP)--update 2014.

Stefan Aretz1, Hans F A Vasen2, Sylviane Olschwang3.   

Abstract

Entities:  

Mesh：

Year:  2014        PMID： 25248397      PMCID： PMC4795070          DOI： 10.1038/ejhg.2014.193

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


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  19 in total

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

Authors:  S Aretz; D Stienen; S Uhlhaas; C Pagenstecher; E Mangold; R Caspari; P Propping; W Friedl
Journal:  J Med Genet       Date:  2005-02       Impact factor: 6.318

2.  Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.

Authors:  Isabel Spier; Sukanya Horpaopan; Stefanie Vogt; Siegfried Uhlhaas; Monika Morak; Dietlinde Stienen; Markus Draaken; Michael Ludwig; Elke Holinski-Feder; Markus M Nöthen; Per Hoffmann; Stefan Aretz
Journal:  Hum Mutat       Date:  2012-04-16       Impact factor: 4.878

Review 3.  Correlations between mutation site in APC and phenotype of familial adenomatous polyposis (FAP): a review of the literature.

Authors:  M H Nieuwenhuis; H F A Vasen
Journal:  Crit Rev Oncol Hematol       Date:  2006-10-24       Impact factor: 6.312

4.  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 5.  Familial adenomatous polyposis.

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

6.  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

7.  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

8.  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

9.  Attenuated familial adenomatous polyposis: results from an international collaborative study.

Authors:  A L Knudsen; S Bülow; I Tomlinson; G Möslein; K Heinimann; I J Christensen
Journal:  Colorectal Dis       Date:  2010-10       Impact factor: 3.788

10.  Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

Authors:  Claire Palles; Jean-Baptiste Cazier; Kimberley M Howarth; Enric Domingo; Angela M Jones; Peter Broderick; Zoe Kemp; Sarah L Spain; Estrella Guarino; Estrella Guarino Almeida; Israel Salguero; Amy Sherborne; Daniel Chubb; Luis G Carvajal-Carmona; Yusanne Ma; Kulvinder Kaur; Sara Dobbins; Ella Barclay; Maggie Gorman; Lynn Martin; Michal B Kovac; Sean Humphray; Anneke Lucassen; Christopher C Holmes; David Bentley; Peter Donnelly; Jenny Taylor; Christos Petridis; Rebecca Roylance; Elinor J Sawyer; David J Kerr; Susan Clark; Jonathan Grimes; Stephen E Kearsey; Huw J W Thomas; Gilean McVean; Richard S Houlston; Ian Tomlinson
Journal:  Nat Genet       Date:  2012-12-23       Impact factor: 38.330
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  3 in total

Review 1.  Advances in Biomarkers: Going Beyond the Carcinoembryonic Antigen.

Authors:  Nicole E Lopez; Carrie Y Peterson
Journal:  Clin Colon Rectal Surg       Date:  2016-09

2.  Whole exome sequencing in familial isolated primary hyperparathyroidism.

Authors:  F Cetani; E Pardi; P Aretini; F Saponaro; S Borsari; L Mazoni; M Apicella; P Civita; M La Ferla; M A Caligo; F Lessi; C M Mazzanti; L Torregossa; A Oppo; C Marcocci
Journal:  J Endocrinol Invest       Date:  2019-09-05       Impact factor: 4.256

3.  Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia.

Authors:  Elvira D'Andrea; Tyra Lagerberg; Corrado De Vito; Erica Pitini; Carolina Marzuillo; Azzurra Massimi; Maria Rosaria Vacchio; Paola Grammatico; Paolo Villari
Journal:  Eur J Hum Genet       Date:  2018-01-26       Impact factor: 4.246
  3 in total

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