Published in Anat Rec (Hoboken) on February 09, 2013
How best can we define double outlet right ventricle when describing congenitally malformed hearts? Anat Rec (Hoboken) (2013) 0.75
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nat Genet (2007) 3.47
Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr (2011) 2.57
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet (2002) 2.46
Genetic dosage compensation in a family with velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome. Am J Med Genet A (2011) 1.54
NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet (2005) 1.53
Association of deletion 22 and trisomy 21: a likely random association in patients with conotruncal heart defects. Am J Med Genet A (2005) 1.52
Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat (2009) 1.49
Deletion 22q11 and isolated congenital heart disease. Int J Cardiol (2007) 1.49
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome). Am J Med Genet A (2008) 1.40
The heart of Santa Rosa. Lancet (2010) 1.40
Atrioventricular canal defect in Bardet-Biedl syndrome: clinical evidence supporting the link between atrioventricular canal defect and polydactyly syndromes with ciliary dysfunction536. Genet Med (2006) 1.38
LEOPARD syndrome: clinical diagnosis in the first year of life. Am J Med Genet A (2006) 1.37
Prevalence and clinical significance of cardiovascular abnormalities in patients with the LEOPARD syndrome. Am J Cardiol (2007) 1.29
Clinical, pathological, and molecular analyses of cardiovascular abnormalities in Costello syndrome: a Ras/MAPK pathway syndrome. Am J Med Genet A (2011) 1.24
Costello syndrome: clinical diagnosis in the first year of life. Eur J Pediatr (2007) 1.21
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. Eur J Med Genet (2012) 1.21
Cardiac outflow tract: a review of some embryogenetic aspects of the conotruncal region of the heart. Anat Rec A Discov Mol Cell Evol Biol (2006) 1.16
Familial transposition of the great arteries caused by multiple mutations in laterality genes. Heart (2009) 1.16
SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Hum Mutat (2011) 1.12
PTPN11 gene mutations: linking the Gln510Glu mutation to the "LEOPARD syndrome phenotype". Eur J Pediatr (2006) 1.11
New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome. Cardiol Young (2009) 1.10
Double-orifice left atrioventricular valve in patients with atrioventricular septal defect with and without down syndrome. Ann Thorac Surg (2013) 1.08
Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. Am J Med Genet A (2008) 1.07
Cardiac defects and results of cardiac surgery in 22q11.2 deletion syndrome. Dev Disabil Res Rev (2008) 1.07
Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot. Hum Mutat (2003) 1.06
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat (2011) 1.05
Better surgical prognosis for patients with complete atrioventricular septal defect and Down's syndrome. Ann Thorac Surg (2004) 1.02
Familial recurrence of congenital heart disease: an overview and review of the literature. Eur J Pediatr (2006) 1.00
Genetic syndromes and congenital heart defects: how is surgical management affected? Eur J Cardiothorac Surg (2008) 0.98
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 gene. Eur J Hum Genet (2003) 0.98
Genetic syndromes and outcome after surgical correction of tetralogy of Fallot. Ann Thorac Surg (2006) 0.96
CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects. Am J Med Genet A (2005) 0.95
Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis. Eur J Med Genet (2012) 0.95
A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot. Eur J Hum Genet (2012) 0.94
Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality. Ital Heart J (2004) 0.94
Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects. Eur J Med Genet (2011) 0.93
Absent pulmonary valve with intact ventricular septum and patent ductus arteriosus: a specific cardiac phenotype associated with deletion 18q syndrome. Am J Med Genet A (2005) 0.91
Tetralogy of Fallot with aortic valvular stenosis and deletion 22q11. Ann Thorac Surg (2003) 0.90
Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2. Am J Med Genet A (2009) 0.88
Screening for celiac disease in patients with deletion 22q11.2 (DiGeorge/velo-cardio-facial syndrome). Am J Med Genet A (2003) 0.86
16p subtelomeric duplication: a clinically recognizable syndrome. Eur J Hum Genet (2009) 0.86
Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects. J Thorac Cardiovasc Surg (2009) 0.85
Folic acid and methionine in the prevention of teratogen-induced congenital defects in mice. Cardiovasc Pathol (2008) 0.85
Hif1α down-regulation is associated with transposition of great arteries in mice treated with a retinoic acid antagonist. BMC Genomics (2010) 0.85
Autosomal dominant inheritance of aplasia cutis congenita and congenital heart defect: a possible link to the Adams-Oliver syndrome. Am J Med Genet A (2008) 0.83
Pulmonary atresia with intact ventricular septum and systemic-pulmonary collateral arteries. Ann Thorac Surg (2002) 0.83
Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection. Am J Med Genet A (2009) 0.82
A multiple retinoic acid antagonist induces conotruncal anomalies, including transposition of the great arteries, in mice. Cardiovasc Pathol (2006) 0.82
Shells and heart: are human laterality and chirality of snails controlled by the same maternal genes? Am J Med Genet A (2010) 0.82
GATA4 as candidate gene for pericardial defects. Ann Thorac Surg (2007) 0.82
Hypoplastic left heart syndrome in patients with Kabuki syndrome. Pediatr Cardiol (2010) 0.82
Normothermic extracorporeal perfusion of isolated porcine liver after warm ischaemia: a preliminary report. Crit Care Resusc (2012) 0.82
Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2. Am J Med Genet A (2005) 0.81
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1. Am J Med Genet A (2011) 0.81
Congenital intrahepatic portosystemic venous shunt: an unusual feature in LEOPARD syndrome and in neurofibromatosis type 1. Am J Med Genet A (2005) 0.80
Types of cardiac defects in children with Down's syndrome. Cardiol Young (2006) 0.80
Atrioventricular canal defect as a sign of laterality defect in Ellis-van Creveld and polydactyly syndromes with ciliary and Hedgehog signaling dysfunction. Pediatr Cardiol (2012) 0.80
Familial recurrence of heart defects in subjects with congenitally corrected transposition of the great arteries. Am J Med Genet A (2005) 0.80
Cardiopulmonary response to exercise and cardiac assessment in patients with turner syndrome. Am J Cardiol (2011) 0.80
Lipomatous apocrine mixed tumor of the skin: an unusual giant lesion occurring in the breast. J Cutan Pathol (2009) 0.80
Atrioventricular septal defect prognosis for patients with Down syndrome. Pediatr Cardiol (2012) 0.80
Feasibility and clinical impact of live three-dimensional echocardiography in the management of congenital heart disease. Echocardiography (2006) 0.79
Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am J Med Genet A (2012) 0.79
Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot. Clin Dysmorphol (2006) 0.78
22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular system. J Cardiovasc Med (Hagerstown) (2006) 0.78
Severe, obstructive biventricular hypertrophy in a patient with Costello syndrome: Clinical impact and management. Int J Cardiol (2007) 0.78
Cardiovascular malformations in Adams-Oliver syndrome. Am J Med Genet A (2015) 0.78
Ventricular septal defect and deletion of chromosome 22q11: anatomical types and aortic arch anomalies. Eur J Pediatr (2002) 0.78
Better surgical prognosis for patients with Down syndrome. J Thorac Cardiovasc Surg (2008) 0.78
Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease. Dis Markers (2010) 0.77
Atrioventricular canal defect in patients with RASopathies. Eur J Hum Genet (2012) 0.77
Outcome in Down syndrome fetuses with cardiac anomalies. Am J Med Genet A (2004) 0.77
Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations. Birth Defects Res A Clin Mol Teratol (2004) 0.77
Influence of chromosome 22q11.2 microdeletion on surgical outcome after treatment of tetralogy of fallot with pulmonary atresia. J Thorac Cardiovasc Surg (2003) 0.77
Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect. Am J Med Genet A (2006) 0.77
JAG1 mutation in a patient with deletion 22q11.2 syndrome and tetralogy of Fallot. Am J Med Genet A (2013) 0.77
Specific congenital heart defects in RSH/Smith-Lemli-Opitz syndrome: postulated involvement of the sonic hedgehog pathway in syndromes with postaxial polydactyly or heterotaxia. Birth Defects Res A Clin Mol Teratol (2003) 0.77
Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother. Cardiol Young (2012) 0.76
Nonsyndromic pulmonary valve stenosis and the PTPN11 gene. Am J Med Genet A (2003) 0.76
Transposition of the great arteries in asplenia and polysplenia phenotypes. Am J Med Genet (2002) 0.76
Spiral shapes in heart and shells: when form and function do matter. Eur J Cardiothorac Surg (2012) 0.76
Spiral pattern: universe, normal heart, and complex congenital defects. J Thorac Cardiovasc Surg (2003) 0.76
Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in man. Int J Cardiol (2009) 0.76
Hypertrophic cardiomyopathy in a patient with Down's syndrome. J Cardiovasc Med (Hagerstown) (2007) 0.76
The heart and shell. Anatomical and genetic similarities. Am Heart J (2011) 0.76
Concordant familial segregation of atrial septal defect and Axenfeld-Rieger anomaly in father and son. Clin Dysmorphol (2006) 0.75
Re: right isomerism, pulmonary atresia, and major aorto-pulmonary collateral arteries. Cardiol Young (2006) 0.75
Screening for 22q11.2 microdeletion in adults with tetralogy of Fallot. Heart (2011) 0.75
Truncus arteriosus and duplication 8q. Am J Med Genet A (2003) 0.75
Severe, early onset hypertrophic cardiomyopathy in a family with LEOPARD syndrome. J Prenat Med (2008) 0.75
Re: Atrioventricular septal defect with common atrioventricular junction, common arterial trunk and severe coartation of the aorta in a patient with Down's syndrome. Cardiol Young (2007) 0.75
Isolated cleft of the mitral valve: its pathogenic relationship with endocardial cushion defects. Tex Heart Inst J (2010) 0.75
Univentricular heart and supravalvular ring. Int J Cardiovasc Imaging (2006) 0.75
Familial recurrence of discrete membranous subaortic stenosis. J Thorac Cardiovasc Surg (2007) 0.75
Double-outlet left ventricle with L-malposition of the great arteries and subpulmonary ventricular septal defect. Pediatr Cardiol (2013) 0.75
Ductal origin of the distal pulmonary artery in truncus arteriosus. Ann Thorac Surg (2007) 0.75
[Cardiac defects in Mexican children with down syndrome]. Rev Esp Cardiol (2004) 0.75
Criss-cross heart with d-ventricular loop. Circulation (2002) 0.75
Persistent left superior vena cava into unroofed coronary sinus. Lancet (2006) 0.75