Published in Hum Mutat on August 01, 2006
Fibrillin-1 regulates the bioavailability of TGFbeta1. J Cell Biol (2007) 1.67
Genome-wide mutational landscape of mucinous carcinomatosis peritonei of appendiceal origin. Genome Med (2014) 1.55
The importance of genetic testing in the clinical management of patients with Marfan syndrome and related disorders. Dtsch Arztebl Int (2008) 1.49
Aortic aneurysms: an immune disease with a strong genetic component. Circulation (2008) 1.48
Transforming growth factor-beta signaling in thoracic aortic aneurysm development: a paradox in pathogenesis. J Vasc Res (2008) 1.42
Modulation of noncanonical TGF-β signaling prevents cleft palate in Tgfbr2 mutant mice. J Clin Invest (2012) 1.37
High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders. J Allergy Clin Immunol (2013) 1.35
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients. Orphanet J Rare Dis (2009) 1.11
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome. Hum Genet (2007) 1.07
Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. Eur J Hum Genet (2011) 1.07
New insights into the performance of human whole-exome capture platforms. Nucleic Acids Res (2015) 1.04
The clinical spectrum of complete FBN1 allele deletions. Eur J Hum Genet (2010) 1.00
Molecular characterization of Leber congenital amaurosis in Koreans. Mol Vis (2008) 0.95
Genetic insights into bicuspid aortic valve formation. Cardiol Res Pract (2012) 0.93
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. Eur J Hum Genet (2010) 0.87
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations. Am J Med Genet A (2012) 0.86
TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. Am J Med Genet A (2011) 0.86
Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene. Mol Cytogenet (2012) 0.84
New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome. BMC Genet (2014) 0.83
Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1]. Eur J Hum Genet (2010) 0.80
Association of TGFBR2 rs6785358 Polymorphism with Increased Risk of Congenital Ventricular Septal Defect in a Chinese Population. Pediatr Cardiol (2015) 0.77
2006 Curt Stern Award Address. Marfan syndrome: from molecules to medicines. Am J Hum Genet (2007) 0.77
Overexpression of Gremlin-1 in patients with Loeys-Dietz syndrome: implications on pathophysiology and early disease detection. PLoS One (2014) 0.77
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm. Hum Genet (2015) 0.76
International Registry of Patients Carrying TGFBR1 or TGFBR2 Mutations: Results of the Montalcino Aortic Consortium. Circ Cardiovasc Genet (2016) 0.75
Loeys-Dietz syndrome in a Southeast Asian Hospital: a case series. Eur J Pediatr (2013) 0.75
Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. Nat Genet (2003) 11.67
Heterozygous TGFBR2 mutations in Marfan syndrome. Nat Genet (2004) 6.15
NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol. J Biol Chem (2004) 4.37
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. Eur Heart J (2013) 3.58
Transformation of percutaneous venoarterial extracorporeal membrane oxygenation access to a safe peripheral arterial cannulation. J Thorac Cardiovasc Surg (2013) 3.24
Rivastigmine for the prevention of postoperative delirium in elderly patients undergoing elective cardiac surgery--a randomized controlled trial. Crit Care Med (2009) 2.47
Quality, quantity and harmony: the DataSHaPER approach to integrating data across bioclinical studies. Int J Epidemiol (2010) 2.44
Apolipoprotein B100 metabolism in autosomal-dominant hypercholesterolemia related to mutations in PCSK9. Arterioscler Thromb Vasc Biol (2004) 2.37
Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat (2003) 2.10
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet (2011) 2.02
Off-pump pulmonary valve replacement with the new Shelhigh Injectable Stented Pulmonic Valve. J Thorac Cardiovasc Surg (2006) 2.01
Valve-in-valve transcatheter aortic valve implantation for degenerated bioprosthetic heart valves. JACC Cardiovasc Interv (2011) 1.94
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet (2012) 1.93
Clinical outcomes of patients with severe aortic stenosis at increased surgical risk according to treatment modality. J Am Coll Cardiol (2011) 1.86
Surgery for complications of trans-catheter closure of atrial septal defects: a multi-institutional study from the European Congenital Heart Surgeons Association. Eur J Cardiothorac Surg (2010) 1.86
Evaluation of multidimensional geriatric assessment as a predictor of mortality and cardiovascular events after transcatheter aortic valve implantation. JACC Cardiovasc Interv (2012) 1.84
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet (2006) 1.77
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. PLoS Genet (2011) 1.77
Incidence and predictors of atrioventricular conduction impairment after transcatheter aortic valve implantation. Am J Cardiol (2010) 1.71
Clinical outcomes of patients with estimated low or intermediate surgical risk undergoing transcatheter aortic valve implantation. Eur Heart J (2013) 1.70
S100A1 genetically targeted therapy reverses dysfunction of human failing cardiomyocytes. J Am Coll Cardiol (2011) 1.68
Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J (2010) 1.68
Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics (2009) 1.67
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease. Hum Mutat (2009) 1.67
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
Scimitar syndrome: a European Congenital Heart Surgeons Association (ECHSA) multicentric study. Circulation (2010) 1.59
C57BL/6J and A/J mice fed a high-fat diet delineate components of metabolic syndrome. Obesity (Silver Spring) (2007) 1.58
Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram. Invest Ophthalmol Vis Sci (2005) 1.57
Differential diagnosis of muscular hypotonia in infants: the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI). Neuromuscul Disord (2007) 1.56
Quality of life of grown-up congenital heart disease patients after congenital cardiac surgery. Eur J Cardiothorac Surg (2009) 1.56
Mortality and neurologic injury after surgical repair with hypothermic circulatory arrest in acute and chronic proximal thoracic aortic pathology: effect of age on outcome. Circulation (2011) 1.56
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Impact of clopidogrel in coronary artery bypass grafting. Eur J Cardiothorac Surg (2004) 1.54
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia. Hum Mutat (2005) 1.54
UMD (Universal Mutation Database): 2005 update. Hum Mutat (2005) 1.52
Marfan syndrome in the third Millennium. Eur J Hum Genet (2002) 1.52
Exome sequencing in suspected monogenic dyslipidemias. Circ Cardiovasc Genet (2015) 1.51
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody. Circ Cardiovasc Genet (2015) 1.50
The location of the primary entry tear in acute type B aortic dissection affects early outcome. Eur J Cardiothorac Surg (2012) 1.48
Aortitis following percutaneous aortic side branch embolization prior to endovascular repair of infrarenal aortic aneurysm. J Endovasc Ther (2007) 1.46
Pharmacological chaperone corrects lysosomal storage in Fabry disease caused by trafficking-incompetent variants. Am J Physiol Cell Physiol (2006) 1.45
Vascular defects and sensorineural deafness in a mouse model of Norrie disease. J Neurosci (2002) 1.44
Impact of permanent pacemaker implantation on clinical outcome among patients undergoing transcatheter aortic valve implantation. J Am Coll Cardiol (2012) 1.44
Effect on false-lumen status of a combined vascular and endovascular approach for the treatment of acute type A aortic dissection. Eur J Cardiothorac Surg (2011) 1.43
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet (2008) 1.43
Type A aortic dissection after nonaortic cardiac surgery. Circulation (2013) 1.40
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet (2013) 1.40
Should aortic arch replacement be performed during initial surgery for aortic root aneurysm in patients with Marfan syndrome? Eur J Cardiothorac Surg (2013) 1.40
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nat Genet (2008) 1.40
UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Hum Mutat (2009) 1.40
Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation. Invest Ophthalmol Vis Sci (2006) 1.38
Mice null for Frizzled4 (Fzd4-/-) are infertile and exhibit impaired corpora lutea formation and function. Biol Reprod (2005) 1.35
Recent advances in understanding Marfan syndrome: should we now treat surgical patients with losartan? J Thorac Cardiovasc Surg (2008) 1.35
Risk of acute kidney injury in patients with severe aortic valve stenosis undergoing transcatheter valve replacement. Nephrol Dial Transplant (2009) 1.34
Predictors of functional decline in elderly patients undergoing transcatheter aortic valve implantation (TAVI). Eur Heart J (2012) 1.33
Self-made pericardial tube graft: a new surgical concept for treatment of graft infections after thoracic and abdominal aortic procedures. Ann Thorac Surg (2011) 1.33
Role of the Norrie disease pseudoglioma gene in sprouting angiogenesis during development of the retinal vasculature. Invest Ophthalmol Vis Sci (2005) 1.33
Functional ADA polymorphism increases sleep depth and reduces vigilant attention in humans. Cereb Cortex (2011) 1.29
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet (2006) 1.29
Genetic association with response to intravitreal ranibizumab in patients with neovascular AMD. Invest Ophthalmol Vis Sci (2011) 1.27
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome. Hum Genet (2001) 1.26
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.25
Mechanisms of failure and outcome of secondary surgical interventions after thoracic endovascular aortic repair (TEVAR). Ann Thorac Surg (2011) 1.24
Iatrogenic left main coronary artery dissection: incidence, classification, management, and long-term follow-up. Am Heart J (2010) 1.23
Nomograms for aortic root diameters in children using two-dimensional echocardiography. Am J Cardiol (2010) 1.23
Massive pulmonary embolism: surgical embolectomy versus thrombolytic therapy--should surgical indications be revisited? Eur J Cardiothorac Surg (2012) 1.22
Impact of coronary artery disease and percutaneous coronary intervention on outcomes in patients with severe aortic stenosis undergoing transcatheter aortic valve implantation. EuroIntervention (2011) 1.22
Complications associated with the arterial puncture closure device--Angio-Seal. Vasc Endovascular Surg (2008) 1.22
Night blindness-associated mutations in the ligand-binding, cysteine-rich, and intracellular domains of the metabotropic glutamate receptor 6 abolish protein trafficking. Hum Mutat (2007) 1.21
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation (2009) 1.21
Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. Am J Gastroenterol (2008) 1.20
Percutaneous management of vascular complications in patients undergoing transcatheter aortic valve implantation. JACC Cardiovasc Interv (2012) 1.19
Automated HPLC assay for urinary collagen cross-links: effect of age, menopause, and metabolic bone diseases. Clin Chem (2008) 1.19
In vivo evidence that furin from hepatocytes inactivates PCSK9. J Biol Chem (2010) 1.18
Benefits of cardiac surgery in octogenarians--a postoperative quality of life assessment. Eur J Cardiothorac Surg (2007) 1.17
Excellent outcome after surgical treatment of massive pulmonary embolism in critically ill patients. J Thorac Cardiovasc Surg (2008) 1.17
Dural ectasia in children with Marfan syndrome: a prospective, multicenter, patient-control study. Am J Med Genet A (2006) 1.17
Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Am J Hum Genet (2008) 1.16
Degenerative aortic valve stenosis, but not coronary disease, is associated with shorter telomere length in the elderly. Arterioscler Thromb Vasc Biol (2006) 1.14
Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders. Hum Mutat (2008) 1.14
Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature. Am J Med Genet A (2004) 1.14
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat (2002) 1.13
Identification and characterization of a novel RPGR isoform in human retina. Hum Mutat (2007) 1.13
Plicated patch repair for acquired Gerbode defect involving the tricuspid valve. Ann Thorac Surg (2010) 1.13
Clinical experience with the ATS 3f Enable® Sutureless Bioprosthesis. Eur J Cardiothorac Surg (2011) 1.12
Clinical outcome and predictors for adverse events after transcatheter aortic valve implantation with the use of different devices and access routes. Am Heart J (2011) 1.12
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. Hum Mutat (2009) 1.11
Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci (2009) 1.10
Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness. Mol Vis (2005) 1.10
Ectopic norrin induces growth of ocular capillaries and restores normal retinal angiogenesis in Norrie disease mutant mice. J Neurosci (2005) 1.10
Aortic event rate in the Marfan population: a cohort study. Circulation (2011) 1.09
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. Am J Hum Genet (2009) 1.09
LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix. Hum Mutat (2012) 1.09
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene. Eur J Hum Genet (2009) 1.09
Acute aortic dissection determines the fate of initially untreated aortic segments in Marfan syndrome. Circulation (2013) 1.09