Literature DB >> 11158176

Molecular characterisation of a supernumerary ring chromosome in a patient with VATER association.

R Cinti, M Priolo, M Lerone, G Gimelli, M Seri, M Silengo, R Ravazzolo.   

Abstract

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Mesh：

Year:  2001        PMID： 11158176      PMCID： PMC1734799          DOI： 10.1136/jmg.38.2.e6

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


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  11 in total

Review 1.  Familial occurrence of the VATER/VACTERL association.

Authors:  Alina Hilger; Charlotte Schramm; Markus Draaken; Sadaf S Mughal; Gabriel Dworschak; Enrika Bartels; Per Hoffmann; Markus M Nöthen; Heiko Reutter; Michael Ludwig
Journal:  Pediatr Surg Int       Date:  2012-03-16       Impact factor: 1.827

Review 2.  Underlying genetic factors of the VATER/VACTERL association with special emphasis on the "Renal" phenotype.

Authors:  Heiko Reutter; Alina C Hilger; Friedhelm Hildebrandt; Michael Ludwig
Journal:  Pediatr Nephrol       Date:  2016-02-08       Impact factor: 3.714

3.  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 4.  Oesophageal atresia, tracheo-oesophageal fistula, and the VACTERL association: review of genetics and epidemiology.

Authors:  C Shaw-Smith
Journal:  J Med Genet       Date:  2005-11-18       Impact factor: 6.318

5.  De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association.

Authors:  Alina Hilger; Charlotte Schramm; Tracie Pennimpede; Lars Wittler; Gabriel C Dworschak; Enrika Bartels; Hartmut Engels; Alexander M Zink; Franziska Degenhardt; Annette M Müller; Eberhard Schmiedeke; Sabine Grasshoff-Derr; Stefanie Märzheuser; Stuart Hosie; Stefan Holland-Cunz; Charlotte H W Wijers; Carlo L M Marcelis; Iris A L M van Rooij; Friedhelm Hildebrandt; Bernhard G Herrmann; Markus M Nöthen; Michael Ludwig; Heiko Reutter; Markus Draaken
Journal:  Eur J Hum Genet       Date:  2013-04-03       Impact factor: 4.246

6.  VATER/VACTERL Association: Evidence for the Role of Genetic Factors.

Authors:  H Reutter; M Ludwig
Journal:  Mol Syndromol       Date:  2013-02

7.  Congenital pouch colon with prune belly syndrome and megalourethra.

Authors:  A K Bangroo; Shashi Tiwari; Ramji Khetri; Mohit Sahni
Journal:  Pediatr Surg Int       Date:  2005-05-03       Impact factor: 1.827

Review 8.  VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.

Authors:  Enrika Bartels; Anna C Schulz; Nicole W Mora; Daniel E Pineda-Alvarez; Charlotte H W Wijers; Carlo M Marcelis; Rüdiger Stressig; Jochen Ritgen; Eberhard Schmiedeke; Manuel Mattheisen; Markus Draaken; Per Hoffmann; Alina C Hilger; Gabriel C Dworschak; Friederike Baudisch; Michael Ludwig; Soyhan Bagci; Andreas Müller; Ulrich Gembruch; Annegret Geipel; Christoph Berg; Peter Bartmann; Markus M Nöthen; Iris A L M van Rooij; Benjamin D Solomon; Heiko M Reutter
Journal:  Clin Dysmorphol       Date:  2012-10       Impact factor: 0.816

9.  VACTERL association and mitochondrial dysfunction.

Authors:  Benjamin D Solomon; Ankita Patel; Sau Wai Cheung; Daniel E Pineda-Alvarez
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2011-02-09

10.  Is Duane retraction syndrome part of the VACTERL association?

Authors:  Serpil Akar; Birsen Gokyigit; Isilay Kavadarli; Ahmet Demirok
Journal:  Clin Ophthalmol       Date:  2013-03-20
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