Literature DB >> 17336605

Chromosomal anomalies in the aetiology of oesophageal atresia and tracheo-oesophageal fistula.

Janine F Felix1, Dick Tibboel, Annelies de Klein.   

Abstract

Oesophageal atresia (OA) and tracheo-oesophageal fistula (TOF) are severe congenital anomalies of which the aetiology is largely unknown. Several chromosomal anomalies have been described in patients presenting with these anatomical malformations, but until now none of these has led to the identification of a single aetiological factor. This paper reviews the chromosomal abnormalities reported in cases of OA/TOF and serves as a starting point to identify chromosomal regions harbouring genes involved in the aetiology of OA/TOF.

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Year:  2007        PMID： 17336605     DOI： 10.1016/j.ejmg.2006.12.004

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN： 1769-7212            Impact factor:   2.708


  21 in total

1.  Copy number variations in 375 patients with oesophageal atresia and/or tracheoesophageal fistula.

Authors:  Erwin Brosens; Florian Marsch; Elisabeth M de Jong; Hitisha P Zaveri; Alina C Hilger; Vera Gisela Choinitzki; Alice Hölscher; Per Hoffmann; Stefan Herms; Thomas M Boemers; Benno M Ure; Martin Lacher; Michael Ludwig; Bert H Eussen; Robert M van der Helm; Hannie Douben; Diane Van Opstal; Rene M H Wijnen; H Berna Beverloo; Yolande van Bever; Alice S Brooks; Hanneke IJsselstijn; Daryl A Scott; Johannes Schumacher; Dick Tibboel; Heiko Reutter; Annelies de Klein
Journal:  Eur J Hum Genet       Date:  2016-07-20       Impact factor: 4.246

2.  VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations.

Authors:  E Brosens; H Eussen; Y van Bever; R M van der Helm; H Ijsselstijn; H P Zaveri; R Wijnen; D A Scott; D Tibboel; A de Klein
Journal:  Mol Syndromol       Date:  2013-02

Review 3.  Genetics of vesicoureteral reflux.

Authors:  Prem Puri; Jan-Hendrik Gosemann; John Darlow; David E Barton
Journal:  Nat Rev Urol       Date:  2011-08-23       Impact factor: 14.432

4.  Evaluation of developmental prognosis for esophageal atresia with tracheoesophageal fistula.

Authors:  Akiyoshi Nomura; Masaya Yamoto; Koji Fukumoto; Toshiaki Takahashi; Kei Ohyama; Akinori Sekioka; Yutaka Yamada; Naoto Urushihara
Journal:  Pediatr Surg Int       Date:  2017-08-12       Impact factor: 1.827

5.  Genetic Testing in a Cohort of Complex Esophageal Atresia.

Authors:  Eliane Beauregard-Lacroix; Jessica Tardif; Emmanuelle Lemyre; Zoha Kibar; Christophe Faure; Philippe M Campeau
Journal:  Mol Syndromol       Date:  2017-06-16

Review 6.  VACTERL/VATER Association.

Authors:  Benjamin D Solomon
Journal:  Orphanet J Rare Dis       Date:  2011-08-16       Impact factor: 4.123

Review 7.  Etiology of esophageal atresia and tracheoesophageal fistula: "mind the gap".

Authors:  Elisabeth M de Jong; Janine F Felix; Annelies de Klein; Dick Tibboel
Journal:  Curr Gastroenterol Rep       Date:  2010-06

8.  Embryology of oesophageal atresia.

Authors:  Adonis S Ioannides; Andrew J Copp
Journal:  Semin Pediatr Surg       Date:  2009-02       Impact factor: 2.754

9.  Population-based birth defects data in the United States, 2010-2014: A focus on gastrointestinal defects.

Authors:  Philip J Lupo; Jennifer L Isenburg; Jason L Salemi; Cara T Mai; Rebecca F Liberman; Mark A Canfield; Glenn Copeland; Sarah Haight; Sanjiv Harpavat; Adrienne T Hoyt; Cynthia A Moore; Wendy N Nembhard; Hoang N Nguyen; Rachel E Rutkowski; Amy Steele; C J Alverson; Erin B Stallings; Russell S Kirby
Journal:  Birth Defects Res       Date:  2017-11-01       Impact factor: 2.344

Review 10.  Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature.

Authors:  Charles Shaw-Smith
Journal:  Eur J Med Genet       Date:  2009-10-12       Impact factor: 2.708
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