Published in Pediatrics on March 01, 2005
Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome. J Med Genet (2013) 1.07
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management. Genet Med (2008) 0.98
The physical phenotype of girls and women with Turner syndrome is not X-imprinted. Hum Genet (2007) 0.89
Turner syndrome in childhood and adolescence. Expert Rev Endocrinol Metab (2008) 0.78
Altered lymphatics in an ovine model of congenital heart disease with increased pulmonary blood flow. Am J Physiol Lung Cell Mol Physiol (2011) 0.78
Imaging of cardiovascular risk in patients with Turner's syndrome. Clin Radiol (2015) 0.76
Altered reactivity and nitric oxide signaling in the isolated thoracic duct from an ovine model of congenital heart disease with increased pulmonary blood flow. Am J Physiol Heart Circ Physiol (2014) 0.76
Horseshoe kidney malformation in Turner syndrome is not associated with HNF-1beta gene mutations. Pediatr Nephrol (2007) 0.76
Disrupted NOS signaling in lymphatic endothelial cells exposed to chronically increased pulmonary lymph flow. Am J Physiol Heart Circ Physiol (2016) 0.75
Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study). Ther Clin Risk Manag (2017) 0.75
Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet (2003) 11.01
Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science (2006) 10.25
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet (2005) 9.62
Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med (2006) 9.50
Angiotensin II blockade and aortic-root dilation in Marfan's syndrome. N Engl J Med (2008) 7.31
The revised Ghent nosology for the Marfan syndrome. J Med Genet (2010) 6.87
Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nat Genet (2004) 6.14
Exosome-mediated recognition and degradation of mRNAs lacking a termination codon. Science (2002) 5.46
Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med (2007) 5.25
An mRNA surveillance mechanism that eliminates transcripts lacking termination codons. Science (2002) 5.22
Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med (2014) 5.11
Marfan's syndrome. Lancet (2005) 4.99
TGF-beta-dependent pathogenesis of mitral valve prolapse in a mouse model of Marfan syndrome. J Clin Invest (2004) 4.85
Separable roles for rent1/hUpf1 in altered splicing and decay of nonsense transcripts. Science (2002) 3.84
Noncanonical TGFβ signaling contributes to aortic aneurysm progression in Marfan syndrome mice. Science (2011) 3.49
Treatment of aortic disease in patients with Marfan syndrome. Circulation (2005) 3.48
Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism. Science (2011) 3.18
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome. J Clin Invest (2004) 3.01
Lessons on the pathogenesis of aneurysm from heritable conditions. Nature (2011) 2.97
Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome. Nat Genet (2006) 2.94
Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature (2005) 2.90
Diastolic dysfunction is an independent risk factor for death in patients with sickle cell disease. J Am Coll Cardiol (2007) 2.76
Circulating transforming growth factor-beta in Marfan syndrome. Circulation (2009) 2.69
Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity. Circ Res (2005) 2.63
Cardiac studies in patients treated with depsipeptide, FK228, in a phase II trial for T-cell lymphoma. Clin Cancer Res (2006) 2.61
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm. Nat Genet (2012) 2.44
Association of human aging with a functional variant of klotho. Proc Natl Acad Sci U S A (2002) 2.38
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. Nat Genet (2012) 2.34
Perturbations of vascular homeostasis and aortic valve abnormalities in fibulin-4 deficient mice. Circ Res (2007) 2.32
Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features. Circulation (2004) 2.27
ACCF/ACR/AHA/NASCI/SCMR 2010 expert consensus document on cardiovascular magnetic resonance: a report of the American College of Cardiology Foundation Task Force on Expert Consensus Documents. J Am Coll Cardiol (2010) 2.23
Cardiovascular manifestations of hypereosinophilic syndromes. Immunol Allergy Clin North Am (2007) 2.17
Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J (2007) 2.14
ACCF/ACR/AHA/NASCI/SCMR 2010 expert consensus document on cardiovascular magnetic resonance: a report of the American College of Cardiology Foundation Task Force on Expert Consensus Documents. Circulation (2010) 2.14
TGFβ receptor mutations impose a strong predisposition for human allergic disease. Sci Transl Med (2013) 2.08
Control of liver cell fate decision by a gradient of TGF beta signaling modulated by Onecut transcription factors. Genes Dev (2005) 2.02
X chromosome parental origin and aortic stiffness in turner syndrome. Clin Endocrinol (Oxf) (2014) 2.02
Marfan syndrome: from molecular pathogenesis to clinical treatment. Curr Opin Genet Dev (2007) 1.99
KLOTHO allele status and the risk of early-onset occult coronary artery disease. Am J Hum Genet (2003) 1.90
Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma. Nature (2013) 1.86
DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy. Am J Hum Genet (2006) 1.85
Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg (2007) 1.75
Aortic dilatation and dissection in Turner syndrome. Circulation (2007) 1.65
Phenotypic spectrum of the SMAD3-related aneurysms-osteoarthritis syndrome. J Med Genet (2012) 1.62
Aortic root replacement in 271 Marfan patients: a 24-year experience. Ann Thorac Surg (2002) 1.59
Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A (2007) 1.54
Lipid profiles in women with 45,X vs 46,XX primary ovarian failure. JAMA (2003) 1.52
Breast cancer incidence in postmenopausal women using testosterone in addition to usual hormone therapy. Menopause (2004) 1.52
Reduced abdominal adiposity and improved glucose tolerance in growth hormone-treated girls with Turner syndrome. J Clin Endocrinol Metab (2008) 1.51
Bone mineral density and fractures in Turner syndrome. Am J Med (2003) 1.51
Cardiac toxicity and efficacy of trastuzumab combined with pertuzumab in patients with [corrected] human epidermal growth factor receptor 2-positive metastatic breast cancer. Clin Cancer Res (2008) 1.50
Synergistic heterozygosity for TGFbeta1 SNPs and BMPR2 mutations modulates the age at diagnosis and penetrance of familial pulmonary arterial hypertension. Genet Med (2008) 1.49
A Pkd1-Fbn1 genetic interaction implicates TGF-β signaling in the pathogenesis of vascular complications in autosomal dominant polycystic kidney disease. J Am Soc Nephrol (2013) 1.49
Doxycycline delays aneurysm rupture in a mouse model of Marfan syndrome. J Vasc Surg (2008) 1.48
Fibrillin microfibrils: multipurpose extracellular networks in organismal physiology. Physiol Genomics (2004) 1.45
Growth hormone treatment and left ventricular dimensions in Turner syndrome. J Pediatr (2007) 1.44
Identification of candidate regions for familial idiopathic scoliosis. Spine (Phila Pa 1976) (2005) 1.43
Pediatric Fabry disease. Pediatrics (2005) 1.43
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. Int J Cardiol (2011) 1.41
Tgfbr2 disruption in postnatal smooth muscle impairs aortic wall homeostasis. J Clin Invest (2014) 1.40
Aortic root replacement in 372 Marfan patients: evolution of operative repair over 30 years. Ann Thorac Surg (2009) 1.39
Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. Eur J Hum Genet (2010) 1.39
Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype? Hum Mol Genet (2003) 1.37
Aortic root operations for Marfan syndrome: a comparison of the Bentall and valve-sparing procedures. Ann Thorac Surg (2008) 1.37
Interaction between krit1 and malcavernin: implications for the pathogenesis of cerebral cavernous malformations. Neurosurgery (2007) 1.35
Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan? J Thorac Cardiovasc Surg (2008) 1.35
Histopathologic findings in ascending aortas from individuals with Loeys-Dietz syndrome (LDS). Am J Surg Pathol (2009) 1.34
Extracellular microfibrils in vertebrate development and disease processes. J Biol Chem (2009) 1.34
Clinical and molecular responses in lung cancer patients receiving Romidepsin. Clin Cancer Res (2008) 1.34
Impact of image analysis methodology on diagnostic and surgical classification of patients with thoracic aortic aneurysms. Ann Thorac Surg (2011) 1.32
p38 MAPK is an early determinant of promiscuous Smad2/3 signaling in the aortas of fibrillin-1 (Fbn1)-null mice. J Biol Chem (2008) 1.32
Angiotensin II-dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis. J Clin Invest (2013) 1.32
Matrix-dependent perturbation of TGFβ signaling and disease. FEBS Lett (2012) 1.31
Growth and maturation in Marfan syndrome. Am J Med Genet (2002) 1.28
Fibrillin-rich microfibrils: Structural determinants of morphogenetic and homeostatic events. J Cell Physiol (2007) 1.27
Toward an understanding of dural ectasia: a light microscopy study in a murine model of Marfan syndrome. Spine (Phila Pa 1976) (2005) 1.27
Developmental expression and subcellular localization of mouse MATER, an oocyte-specific protein essential for early development. Endocrinology (2003) 1.25
Loeys-Dietz syndrome: MDCT angiography findings. AJR Am J Roentgenol (2007) 1.23
Nuclear mRNA degradation pathway(s) are implicated in Xist regulation and X chromosome inactivation. PLoS Genet (2006) 1.22
Induction of macrophage chemotaxis by aortic extracts of the mgR Marfan mouse model and a GxxPG-containing fibrillin-1 fragment. Circulation (2006) 1.20
Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on research in Marfan syndrome and related disorders. Circulation (2008) 1.18
The National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC): results from phase I and scientific opportunities in phase II. Am Heart J (2011) 1.17
Angiotensin receptor blockade attenuates cigarette smoke-induced lung injury and rescues lung architecture in mice. J Clin Invest (2011) 1.17
Insulin-like growth factor 1 is essential for normal dendritic growth. J Neurosci Res (2003) 1.17
Dual functions for LTBP in lung development: LTBP-4 independently modulates elastogenesis and TGF-beta activity. J Cell Physiol (2009) 1.14
Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome. Clin Immunol (2006) 1.14
Characteristics of children and young adults with Marfan syndrome and aortic root dilation in a randomized trial comparing atenolol and losartan therapy. Am Heart J (2013) 1.14
Coronary artery anomalies and variants: technical feasibility of assessment with coronary MR angiography at 3 T. Radiology (2008) 1.12
Iron overload cardiomyopathy: better understanding of an increasing disorder. J Am Coll Cardiol (2010) 1.11
Therapy of Marfan syndrome. Annu Rev Med (2008) 1.09