Marfan Syndrome: Public Health and Genomic Insights - May 18, 2015

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Marfan Syndrome

Marfan Syndrome: Public Health and Genomic Insights - May 18, 2015

CDC and Related Info

• Aortic Aneurysm Fact Sheet
• Genes reported in relation to marfan syndrome, including genomewide association studies via theHuGE Navigator

Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy.
Wooderchak-Donahue W et al. Am. J. Med. Genet. A 2015 May 5.

Marfan syndrome, inherited aortopathies and exercise: What is the right answer?
Cheng A et al. Heart 2015 May 15. (10) 752-757

Molecular pathogenesis of Marfan syndrome.
Ramachandra CJ et al. Int. J. Cardiol. 2015 Mar 31. 585-591

Marfan syndrome is associated with recurrent dissection of the dissected aorta.
Ptaszek Leon M et al. Ann. Thorac. Surg. 2015 May (5) 1616-23

Aortic involvement in pediatric Marfan syndrome: A review.
Ekhomu Oatr Cardiol 2015 Jun (5) 887-95

Design and rationale of a prospective, collaborative meta-analysis of all randomized controlled trials of angiotensin receptor antagonists in Marfan syndrome, based on individual patient data: A report from the Marfan Treatment Trialists' Collaboration.
Pitcher A et al. Am. Heart J. 2015 May (5) 605-12

Next generation sequencing as a rapid molecular diagnosis for Marfan syndrome in a Chinese family with mutations in the fibrillin-1 gene.
Xiao Y et al. Clin. Chim. Acta 2015 Jan 15. 58-60

The economic impact of Marfan syndrome: a non-experimental, retrospective, population-based matched cohort study.
Achelrod D et al. Orphanet J Rare Dis 2014 90

New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.
Yang Ren-Qiang et al. BMC Genet. 2014 74

Marfan Syndrome: Genetics & Public Health - July 2, 2014

Baylor’s Isaiah Austin, who had NBA dream dashed after Marfan syndrome diagnosis, drafted with honorary selection, New York Daily News, Jun 27

Basketball star's diagnosis puts spotlight on inherited genetic disorder known as Marfan syndrome, by John Lugo, Genome Magazine, Jun 30

What is Marfan syndrome? From the National Human Genome Research Institute (April 2014) 

Find out genetic tests and conditions associated with Marfan syndrome from the NIH Genetic Testing Registry

Fibrillin1 Gene Card for Marfan syndrome

Marfan syndrome information from the NIH Genetics Home Reference

CDC information: Aortic Aneurysm Fact Sheet (2013)