Literature DB >> 17036335

CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome.

Cheryl L Maslen1, Darcie Babcock, Susan W Robinson, Lora J H Bean, Kenneth J Dooley, Virginia L Willour, Stephanie L Sherman.   

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Year:  2006        PMID: 17036335     DOI: 10.1002/ajmg.a.31494

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


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  35 in total

Review 1.  Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Authors:  Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell
Journal:  Circulation       Date:  2018-11-20       Impact factor: 29.690

Review 2.  Echocardiography in children with Down syndrome.

Authors:  Mohammed A Al-Biltagi
Journal:  World J Clin Pediatr       Date:  2013-11-08

Review 3.  Genetic basis of congenital cardiovascular malformations.

Authors:  Seema R Lalani; John W Belmont
Journal:  Eur J Med Genet       Date:  2014-04-30       Impact factor: 2.708

4.  Specific association of missense mutations in CRELD1 with cardiac atrioventricular septal defects in heterotaxy syndrome.

Authors:  Samaneh Zhian; John Belmont; Cheryl L Maslen
Journal:  Am J Med Genet A       Date:  2012-06-27       Impact factor: 2.802

5.  Trisomic and allelic differences influence phenotypic variability during development of Down syndrome mice.

Authors:  Samantha L Deitz; Randall J Roper
Journal:  Genetics       Date:  2011-09-16       Impact factor: 4.562

Review 6.  Genetic testing in congenital heart disease: A clinical approach.

Authors:  Marie A Chaix; Gregor Andelfinger; Paul Khairy
Journal:  World J Cardiol       Date:  2016-02-26

Review 7.  Insights into the genetic structure of congenital heart disease from human and murine studies on monogenic disorders.

Authors:  Terence Prendiville; Patrick Y Jay; William T Pu
Journal:  Cold Spring Harb Perspect Med       Date:  2014-10-01       Impact factor: 6.915

8.  Down Syndrome - Genetics and Cardiogenetics.

Authors:  Vasilica Plaiasu
Journal:  Maedica (Bucur)       Date:  2017-09

9.  Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms.

Authors:  Ozanna Burnicka-Turek; Jeffrey D Steimle; Wenhui Huang; Lindsay Felker; Anna Kamp; Junghun Kweon; Michael Peterson; Roger H Reeves; Cheryl L Maslen; Peter J Gruber; Xinan H Yang; Jay Shendure; Ivan P Moskowitz
Journal:  Hum Mol Genet       Date:  2016-06-23       Impact factor: 6.150

10.  An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.

Authors:  Christine Ackerman; Adam E Locke; Eleanor Feingold; Benjamin Reshey; Karina Espana; Janita Thusberg; Sean Mooney; Lora J H Bean; Kenneth J Dooley; Clifford L Cua; Roger H Reeves; Stephanie L Sherman; Cheryl L Maslen
Journal:  Am J Hum Genet       Date:  2012-10-05       Impact factor: 11.025

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