Literature DB >> 9286451

Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome.

A V Mehta1, S K Ambalavanan.   

Abstract

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Year:  1997        PMID： 9286451     DOI： 10.1002/(sici)1096-8628(19970905)71:4<434::aid-ajmg12>3.0.co;2-h

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  6 in total

1.  Congenital heart disease in Cornelia de Lange syndrome: phenotype and genotype analysis.

Authors:  Kathryn C Chatfield; Samantha A Schrier; Jennifer Li; Dinah Clark; Maninder Kaur; Antonie D Kline; Matthew A Deardorff; Laird S Jackson; Elizabeth Goldmuntz; Ian D Krantz
Journal:  Am J Med Genet A       Date:  2012-09-10       Impact factor: 2.802

Review 2.  Natural history of aging in Cornelia de Lange syndrome.

Authors:  Antonie D Kline; Marco Grados; Paul Sponseller; Howard P Levy; Natalie Blagowidow; Christianne Schoedel; Joni Rampolla; Douglas K Clemens; Ian Krantz; Amy Kimball; Carmen Pichard; David Tuchman
Journal:  Am J Med Genet C Semin Med Genet       Date:  2007-08-15       Impact factor: 3.908

Review 3.  Cornelia de Lange syndrome, cohesin, and beyond.

Authors:  J Liu; I D Krantz
Journal:  Clin Genet       Date:  2009-10       Impact factor: 4.438

4.  Dosage effects of cohesin regulatory factor PDS5 on mammalian development: implications for cohesinopathies.

Authors:  Bin Zhang; Jufang Chang; Ming Fu; Jie Huang; Rakesh Kashyap; Ezequiel Salavaggione; Sanjay Jain; Shashikant Kulkarni; Kulkarni Shashikant; Matthew A Deardorff; Maria L Giovannucci Uzielli; Dale Dorsett; David C Beebe; Patrick Y Jay; Robert O Heuckeroth; Ian Krantz; Jeffrey Milbrandt
Journal:  PLoS One       Date:  2009-05-01       Impact factor: 3.240

5.  Multiple organ system defects and transcriptional dysregulation in the Nipbl(+/-) mouse, a model of Cornelia de Lange Syndrome.

Authors:  Shimako Kawauchi; Anne L Calof; Rosaysela Santos; Martha E Lopez-Burks; Clint M Young; Michelle P Hoang; Abigail Chua; Taotao Lao; Mark S Lechner; Jeremy A Daniel; Andre Nussenzweig; Leonard Kitzes; Kyoko Yokomori; Benedikt Hallgrimsson; Arthur D Lander
Journal:  PLoS Genet       Date:  2009-09-18       Impact factor: 5.917

6.  Rare copy number variants contribute to congenital left-sided heart disease.

Authors:  Marc-Phillip Hitz; Louis-Philippe Lemieux-Perreault; Christian Marshall; Yassamin Feroz-Zada; Robbie Davies; Shi Wei Yang; Anath Christopher Lionel; Guylaine D'Amours; Emmanuelle Lemyre; Rebecca Cullum; Jean-Luc Bigras; Maryse Thibeault; Philippe Chetaille; Alexandre Montpetit; Paul Khairy; Bert Overduin; Sabine Klaassen; Pamela Hoodless; Philip Awadalla; Julie Hussin; Youssef Idaghdour; Mona Nemer; Alexandre F R Stewart; Cornelius Boerkoel; Stephen W Scherer; Andrea Richter; Marie-Pierre Dubé; Gregor Andelfinger
Journal:  PLoS Genet       Date:  2012-09-06       Impact factor: 5.917
  6 in total

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