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Congenital heart disease / Vascular surgery / Valvular heart disease / Marfan syndrome / Syndromes / Bicuspid aortic valve / Thoracic aortic aneurysm / Aortic dissection / Aortic insufficiency / Circulatory system / Medicine / Health


The mGluR5 antagonist AFQ056 does not affect methylation and transcription of the mutant FMR1 gene in vitro
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Arg636Gly Arg2726Trp / Firenze / London / /

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Hunt SA / Bancone C / Lemaire SA / Google / Qiagen / BioMed Central Ltd. / Jensen SA / Creative Commons / /

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Germany / Italy / France / United States / United Kingdom / /

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Northwestern University / Imperial College / Careggi Hospital / University of Florence / American College of Cardiology/American Heart Association Task Force / /

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study protocols / profibrillin processing / online submission / /

MedicalCondition

myopia / Aortic disease / hypertrophic cardiomyopathy / frequent congenital heart disease / inherited connective tissue disorder / JE / BAV-related cardiovascular abnormalities / aneurysm / mitral regurgitation / arachnodactyly / aortic valve stenosis / Severe congenital lipodystrophy / pectus excavatum / mitral valve prolapse / pure aortic regurgitation / aortic root aneurysm / connective tissue disorder / disorder / thoracic aortic aneurysm / heterogenous disorder / aortic dilatation/aneurysm / scoliosis / MASS syndrome / progressive cardiac conduction disease / autosomal dominant Weill-Marchesani syndrome / valvular heart disease / Shprintzen-Goldberg syndrome / Compound-heterozygous Marfan syndrome / Bicuspid aortic valve disease / disease / skin abnormalities / human gene-causing diseases / aortic aneurysms / aortic aneurysm / bicuspid aortic valve syndrome / aortic regurgitation / aortic stenosis / marfanoid neonatal progeroid syndrome / significant aortic regurgitation / Marfan syndrome Guglielmina Pepe1 / aortic valve disease / BAV syndrome / Marfan syndrome / kyphosis / related disorders / pes planus / Juvenile idiopathic arthritis / livedo reticularis / hindfoot deformities / connective tissue disorders / common congenital heart disease / thoracic aortic aneurysms / ectopia lentis / syndrome / moderate aortic regurgitation / ascending aortic aneurysm / /

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surgery / cardiovascular surgery / /

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Jamorski MT / /

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Careggi Hospital / Medicine Faculty of Florence / Center for Marfan Syndrome / Department of Heart / 3Cardiology Service / DENOTHE Center / Imperial College / Department of Experimental / Northwestern University / Chicago / Fiorgen Foundation / Association of Marfan / Ulivi Center / Vessels / Regional Marfan Syndrome and Related Disorders Center / Florence / University of Florence / Department of Heart and Vessels / Department of Experimental and Clinical Medicine / Cardiology/American Heart Association Task Force on Practice Guidelines / the American College / 5Heart Science Centre / Ethical Committee / Writing committee / /

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Pepe / Ann Thorac Surg / Della Corte / Don Carlo Gnocchi / Oria V / Ann Hum Genet / Van Dijk / /

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Walker / Shah PM / author / senior cardiologist / King / Cao / de Sa MP / /

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alpha / apoptosis / study protocols / gene expression / http / genotype / /

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www.biomedcentral.com/submit / http /

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