Concepedia

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm

Mark E. Lindsay, Dorien Schepers, Nikhita Bolar, Jefferson J. Doyle, Elena Gallo, Justyna Fert‐Bober, Marlies Kempers, Elliot K. Fishman, Yi‐Chun Chen, Loretha Myers,

Nature Genetics · 2012 · 464 citations · 28 references

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28

A map of human genome variation from population-scale sequencing

Nature · 2010 · 8.1K citations · Full text

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Predicting Deleterious Amino Acid Substitutions

Pauline C. Ng, Steven Henikoff · Genome Research · 2001 · 2.7K citations · Full text

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Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Harry C. Dietz, Carry Cutting, Reed E. Pyeritz et al. · Nature · 1991 · 2.1K citations

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Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome

Jennifer Habashi, Daniel P. Judge, Tammy M. Holm et al. · Science · 2006 · 1.8K citations · Full text

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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

Bart Loeys, Junji Chen, Enid Neptune et al. · Nature Genetics · 2005 · 1.8K citations · Full text

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