Literature DB >> 20949626

Haploinsufficiency of the LIM domain containing preferred translocation partner in lipoma (LPP) gene in patients with tetralogy of Fallot and VACTERL association.

Cammon B Arrington1, Ankita Patel, Carlos A Bacino, Neil E Bowles.   

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Year:  2010        PMID： 20949626     DOI： 10.1002/ajmg.a.33718

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  16 in total

Review 1.  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

2.  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

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

4.  Considering the Embryopathogenesis of VACTERL Association.

Authors:  R E Stevenson; A G W Hunter
Journal:  Mol Syndromol       Date:  2013-02

5.  Non-synonymous variants in pre-B cell leukemia homeobox (PBX) genes are associated with congenital heart defects.

Authors:  Cammon B Arrington; Benjamin R Dowse; Steven B Bleyl; Neil E Bowles
Journal:  Eur J Med Genet       Date:  2012-02-23       Impact factor: 2.708

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

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

Review 7.  Clinical geneticists' views of VACTERL/VATER association.

Authors:  Benjamin D Solomon; Kelly A Bear; Virginia Kimonis; Annelies de Klein; Daryl A Scott; Charles Shaw-Smith; Dick Tibboel; Heiko Reutter; Philip F Giampietro
Journal:  Am J Med Genet A       Date:  2012-11-19       Impact factor: 2.802

8.  Exome analysis of a family with pleiotropic congenital heart disease.

Authors:  Cammon B Arrington; Steven B Bleyl; Norisada Matsunami; Gabriel D Bonnell; Brith E M Otterud; Douglas C Nielsen; Jeffrey Stevens; Shawn Levy; Mark F Leppert; Neil E Bowles
Journal:  Circ Cardiovasc Genet       Date:  2012-02-15

Review 9.  Developmental basis of trachea-esophageal birth defects.

Authors:  Nicole A Edwards; Vered Shacham-Silverberg; Leelah Weitz; Paul S Kingma; Yufeng Shen; James M Wells; Wendy K Chung; Aaron M Zorn
Journal:  Dev Biol       Date:  2021-05-21       Impact factor: 3.582

10.  A multi-platform draft de novo genome assembly and comparative analysis for the Scarlet Macaw (Ara macao).

Authors:  Christopher M Seabury; Scot E Dowd; Paul M Seabury; Terje Raudsepp; Donald J Brightsmith; Poul Liboriussen; Yvette Halley; Colleen A Fisher; Elaine Owens; Ganesh Viswanathan; Ian R Tizard
Journal:  PLoS One       Date:  2013-05-08       Impact factor: 3.240
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