Published in Hum Mol Genet on February 27, 2009
Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases. Pediatr Cardiol (2011) 2.66
Deletion in the EVC2 gene causes chondrodysplastic dwarfism in Tyrolean Grey cattle. PLoS One (2014) 0.98
Ellis van Creveld syndrome--a report of two siblings. BMJ Case Rep (2011) 0.91
Rare autosomal copy number variations in early-onset familial Alzheimer's disease. Mol Psychiatry (2013) 0.90
Cilia and coordination of signaling networks during heart development. Organogenesis (2013) 0.87
Looking down the atrioventricular canal. Cardiovasc Res (2010) 0.78
Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1. J Assist Reprod Genet (2015) 0.77
Cilia gene mutations cause atrioventricular septal defects by multiple mechanisms. Hum Mol Genet (2016) 0.76
Prenatal Diagnosis of Ellis-van Creveld Syndrome by Targeted Sequencing. Chin Med J (Engl) (2016) 0.75
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. Mol Genet Genomics (2015) 0.75
Ensembl 2007. Nucleic Acids Res (2006) 20.10
Patched1 regulates hedgehog signaling at the primary cilium. Science (2007) 9.21
DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME. Bull Johns Hopkins Hosp (1964) 6.15
An abundance of bidirectional promoters in the human genome. Genome Res (2004) 5.90
Monoclonal antibodies specific for an acetylated form of alpha-tubulin recognize the antigen in cilia and flagella from a variety of organisms. J Cell Biol (1985) 5.47
DNASTAR's Lasergene sequence analysis software. Methods Mol Biol (2000) 4.52
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet (2000) 3.87
MyHits: improvements to an interactive resource for analyzing protein sequences. Nucleic Acids Res (2007) 2.77
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet (2003) 2.24
Formation of the atrioventricular septal structures in the normal mouse. Circ Res (1998) 2.21
A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases. Arch Dis Child (1940) 2.00
Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia. Development (2007) 1.74
Isl1 expression at the venous pole identifies a novel role for the second heart field in cardiac development. Circ Res (2007) 1.62
Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. Hum Genet (2006) 1.60
Ellis-van Creveld syndrome and the Amish. Nat Genet (2000) 1.53
A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab (2002) 1.38
Intracardiac septation requires hedgehog-dependent cellular contributions from outside the heart. Development (2008) 1.37
A spatiotemporal evaluation of the contribution of the dorsal mesenchymal protrusion to cardiac development. Dev Dyn (2007) 1.37
Monocilia on chicken embryonic endocardium in low shear stress areas. Dev Dyn (2006) 1.36
Expression of the atrial-specific myosin heavy chain AMHC1 and the establishment of anteroposterior polarity in the developing chicken heart. Development (1994) 1.31
Two distinct pools of mesenchyme contribute to the development of the atrial septum. Circ Res (2006) 1.13
Deficiency of the vestibular spine in atrioventricular septal defects in human fetuses with down syndrome. Am J Cardiol (2003) 1.10
Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia. Am J Med Genet (1999) 1.06
Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders. Cell Cycle (2006) 1.01
Mechanisms of deficient cardiac septation in the mouse with trisomy 16. Circ Res (1999) 0.99
Cancer-associated stromal fibroblasts promote pancreatic tumor progression. Cancer Res (2008) 5.21
Atenolol versus losartan in children and young adults with Marfan's syndrome. N Engl J Med (2014) 5.11
Epithelial to mesenchymal transition contributes to drug resistance in pancreatic cancer. Cancer Res (2009) 4.19
Comparison of magnetic resonance feature tracking for strain calculation with harmonic phase imaging analysis. JACC Cardiovasc Imaging (2010) 3.50
Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy. J Clin Invest (2002) 3.33
Extracellular matrix remodeling and organization in developing and diseased aortic valves. Circ Res (2006) 2.91
Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation (2013) 2.66
Hypoplastic left heart syndrome is heritable. J Am Coll Cardiol (2007) 2.24
Bicuspid aortic valve is heritable. J Am Coll Cardiol (2004) 2.18
Hypoplastic left heart syndrome: current considerations and expectations. J Am Coll Cardiol (2012) 2.10
NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol (2003) 2.09
Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. J Am Coll Cardiol (2009) 1.88
Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies. Cardiovasc Res (2004) 1.80
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation (2005) 1.77
Circumferential strain analysis identifies strata of cardiomyopathy in Duchenne muscular dystrophy: a cardiac magnetic resonance tagging study. J Am Coll Cardiol (2009) 1.74
Spectrum of heart disease associated with murine and human GATA4 mutation. J Mol Cell Cardiol (2007) 1.71
Polymorphic ventricular tachycardia and KCNJ2 mutations. Heart Rhythm (2004) 1.68
Transcription factors and congenital heart defects. Annu Rev Physiol (2006) 1.66
Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation (2002) 1.65
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet (2002) 1.60
Risk factors for aortic valve disease in bicuspid aortic valve: a family-based study. Am J Med Genet A (2011) 1.55
Nuclear factor-kappaB p65/relA silencing induces apoptosis and increases gemcitabine effectiveness in a subset of pancreatic cancer cells. Clin Cancer Res (2008) 1.52
Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation. Heart Rhythm (2012) 1.51
ACC/AHA/AAP recommendations for training in pediatric cardiology. Pediatrics (2005) 1.46
Neutrophil gelatinase-associated lipocalin: a novel suppressor of invasion and angiogenesis in pancreatic cancer. Cancer Res (2008) 1.45
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation. J Clin Invest (2003) 1.41
Mouse heart valve structure and function: echocardiographic and morphometric analyses from the fetus through the aged adult. Am J Physiol Heart Circ Physiol (2008) 1.40
Outpatient continuous inotrope infusion as an adjunct to heart failure therapy in Duchenne muscular dystrophy. Neuromuscul Disord (2006) 1.40
Effect of cromolyn on S100P interactions with RAGE and pancreatic cancer growth and invasion in mouse models. J Natl Cancer Inst (2006) 1.40
CEACAM1, a novel serum biomarker for pancreatic cancer. Pancreas (2007) 1.39
Adrenomedullin is up-regulated in patients with pancreatic cancer and causes insulin resistance in β cells and mice. Gastroenterology (2012) 1.34
Magnetic resonance derived myocardial strain assessment using feature tracking. J Vis Exp (2011) 1.32
Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Hum Genet (2007) 1.28
Fetal heart rate predictors of long QT syndrome. Circulation (2012) 1.24
Neuropilin-2-mediated tumor growth and angiogenesis in pancreatic adenocarcinoma. Clin Cancer Res (2008) 1.20
Prevalence and distribution of late gadolinium enhancement in a large population of patients with Duchenne muscular dystrophy: effect of age and left ventricular systolic function. J Cardiovasc Magn Reson (2013) 1.18
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
Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia. Heart Rhythm (2011) 1.11
Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome. Circ Arrhythm Electrophysiol (2013) 1.11
Prenatal head growth and white matter injury in hypoplastic left heart syndrome. Pediatr Res (2008) 1.09
Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. Hum Mol Genet (2009) 1.09
Inhibition of the hedgehog pathway targets the tumor-associated stroma in pancreatic cancer. Mol Cancer Res (2012) 1.07
Pattern identification in biogeography. IEEE/ACM Trans Comput Biol Bioinform (2006) 1.07
Overexpressed galectin-3 in pancreatic cancer induces cell proliferation and invasion by binding Ras and activating Ras signaling. PLoS One (2012) 1.04
Elastin haploinsufficiency results in progressive aortic valve malformation and latent valve disease in a mouse model. Circ Res (2010) 1.02
Detection of progressive cardiac dysfunction by serial evaluation of circumferential strain in patients with Duchenne muscular dystrophy. Am J Cardiol (2010) 1.00
An intronic mutation causes long QT syndrome. J Am Coll Cardiol (2004) 0.97
BMP and FGF regulatory pathways in semilunar valve precursor cells. Dev Dyn (2007) 0.97
Abnormal circumferential strain is present in young Duchenne muscular dystrophy patients. Pediatr Cardiol (2013) 0.96
Patterns of left ventricular remodeling in patients with Duchenne Muscular Dystrophy: a cardiac MRI study of ventricular geometry, global function, and strain. Int J Cardiovasc Imaging (2011) 0.95
The role of mitochondrial genome in essential hypertension in a Chinese Han population. Eur J Hum Genet (2009) 0.95
Abnormalities of diastolic function precede dilated cardiomyopathy associated with Duchenne muscular dystrophy. J Am Soc Echocardiogr (2006) 0.95
Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome. Pediatr Res (2003) 0.93
Left ventricular T2 distribution in Duchenne muscular dystrophy. J Cardiovasc Magn Reson (2010) 0.93
S100P-derived RAGE antagonistic peptide reduces tumor growth and metastasis. Clin Cancer Res (2012) 0.93
Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome. Hum Mutat (2006) 0.92
Trefoil factor 1 stimulates both pancreatic cancer and stellate cells and increases metastasis. Pancreas (2011) 0.91
Prostaglandin E2 regulates pancreatic stellate cell activity via the EP4 receptor. Pancreas (2013) 0.91
Regional circumferential strain is a biomarker for disease severity in duchenne muscular dystrophy heart disease: a cross-sectional study. Pediatr Cardiol (2014) 0.89
Effects of steroids and angiotensin converting enzyme inhibition on circumferential strain in boys with Duchenne muscular dystrophy: a cross-sectional and longitudinal study utilizing cardiovascular magnetic resonance. J Cardiovasc Magn Reson (2011) 0.88
Bidirectional ventricular tachycardia and channelopathy. Am J Cardiol (2003) 0.88
Differentiation of cardiac Purkinje fibers requires precise spatiotemporal regulation of Nkx2-5 expression. Dev Dyn (2006) 0.88
Autonomic dysfunction: a driving force for myocardial fibrosis in young Duchenne muscular dystrophy patients? Pediatr Cardiol (2014) 0.87
Carrier frequency of F508del mutation of cystic fibrosis in Indian population. J Cyst Fibros (2005) 0.85
Highly sensitive noninvasive cardiac transplant rejection monitoring using targeted quantification of donor-specific cell-free deoxyribonucleic acid. J Am Coll Cardiol (2013) 0.85
Genetic analyses in two extended families with deletion 22q11 syndrome: importance of extracardiac manifestations. J Pediatr (2005) 0.84
Bilateral semilunar valve disease in a child with partial deletion of the Williams-Beuren syndrome region is associated with elastin haploinsufficiency. J Heart Valve Dis (2006) 0.83
Aorta Measurements are Heritable and Influenced by Bicuspid Aortic Valve. Front Genet (2011) 0.83
The presence of bicuspid aortic valve does not predict ventricular septal defect type. Am J Med Genet A (2008) 0.83
Genetic characterization of familial CPVT after 30 years. Biol Res Nurs (2009) 0.83
Spontaneous rupture of atrioventricular valve tensor apparatus as late manifestation of anti-Ro/SSA antibody-mediated cardiac disease. Am J Cardiol (2011) 0.82
TM4SF1 Regulates Pancreatic Cancer Migration and Invasion In Vitro and In Vivo. Cell Physiol Biochem (2016) 0.81
Electrocardiographic abnormalities in very young Duchenne muscular dystrophy patients precede the onset of cardiac dysfunction. Neuromuscul Disord (2011) 0.81
Magnetic resonance imaging assessment of cardiac dysfunction in δ-sarcoglycan null mice. Neuromuscul Disord (2010) 0.80
A management strategy for fetal immune-mediated atrioventricular block. J Matern Fetal Neonatal Med (2010) 0.80
Designing and developing S100P inhibitor 5-methyl cromolyn for pancreatic cancer therapy. Mol Cancer Ther (2013) 0.80
Left ventricular noncompaction in Duchenne muscular dystrophy. J Cardiovasc Magn Reson (2013) 0.79
Compound heterozygous SCN5A mutations: does the sum of the parts equal the whole? Heart Rhythm (2009) 0.78
Looking down the atrioventricular canal. Cardiovasc Res (2010) 0.78
Neonatal long QT syndrome due to a de novo dominant negative hERG mutation. Am J Crit Care (2007) 0.78
Thar's tendons in them thar valves! Circ Res (2008) 0.77
TBX5: a developmental key that fits many locks. J Mol Cell Cardiol (2003) 0.77
Complex story of the genetic origins of pediatric heart disease. Circulation (2010) 0.77
Pulmonary vascular resistance in repaired congenital diaphragmatic hernia vs. age-matched controls. Pediatr Res (2012) 0.76
Genetics of sick sinus syndrome. Card Electrophysiol Clin (2010) 0.76
Structure-function relationships in myosin binding protein-C: taking off the blinders and collaring hypertrophic cardiomyopathy. Circ Res (2002) 0.76
Sudden infant death syndrome and long QT syndrome: the zealots versus the naysayers. Heart Rhythm (2006) 0.75
A candidate locus approach identifies a long QT syndrome gene mutation. Biol Res Nurs (2003) 0.75
Congenital sick sinus syndrome with atrial inexcitability and coronary sinus flutter. Circ Arrhythm Electrophysiol (2011) 0.75
ACCF/AHA/AAP recommendations for training in pediatric cardiology. Task force 7: training guidelines for research in pediatric cardiology. J Am Coll Cardiol (2005) 0.75
Cache-oblivious dynamic programming for bioinformatics. IEEE/ACM Trans Comput Biol Bioinform (2010) 0.75