Published in J Med Genet on May 05, 2006
Familial screening and genetic counselling in hypertrophic cardiomyopathy: the Rotterdam experience. Neth Heart J (2007) 1.23
Genetic advances in sarcomeric cardiomyopathies: state of the art. Cardiovasc Res (2015) 1.19
Targets for therapy in sarcomeric cardiomyopathies. Cardiovasc Res (2015) 0.96
Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands. Neth Heart J (2010) 0.92
The genetic landscape of cardiomyopathy and its role in heart failure. Cell Metab (2015) 0.92
Dissociation of structural and functional phenotypes in cardiac myosin-binding protein C conditional knockout mice. Circulation (2012) 0.89
In vivo cardiac myosin binding protein C gene transfer rescues myofilament contractile dysfunction in cardiac myosin binding protein C null mice. Circ Heart Fail (2012) 0.88
Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy. Circ Res (2010) 0.88
Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system. Int J Mol Med (2016) 0.88
Research priorities in sarcomeric cardiomyopathies. Cardiovasc Res (2015) 0.86
Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy. Circ Heart Fail (2009) 0.86
Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7. Neth Heart J (2013) 0.84
Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects. Eur J Hum Genet (2014) 0.82
A clinical approach to inherited hypertrophy: the use of family history in diagnosis, risk assessment, and management. Circ Cardiovasc Genet (2013) 0.79
Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). Eur J Hum Genet (2011) 0.79
Targeted Mybpc3 Knock-Out Mice with Cardiac Hypertrophy Exhibit Structural Mitral Valve Abnormalities. J Cardiovasc Dev Dis (2015) 0.77
Molecular genetics made simple. Glob Cardiol Sci Pract (2012) 0.77
Selective clinical and immune response of the oligoclonal autoreactive T cells in Omenn patients after cyclosporin A treatment. Clin Exp Immunol (2012) 0.75
A Potential Oligogenic Etiology of Hypertrophic Cardiomyopathy: A Classic Single-Gene Disorder. Circ Res (2017) 0.75
Evaluation of MYBPC3 trans-Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes. Mol Ther Nucleic Acids (2017) 0.75
Linking myofilaments to sudden cardiac death: recent advances. J Physiol (2017) 0.75
Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol (2004) 11.39
Hypertrophic cardiomyopathy: a systematic review. JAMA (2002) 9.15
Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation (2003) 5.85
Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol (2004) 3.47
The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med (2003) 3.28
The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med (2003) 3.07
Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice. Circ Res (2002) 2.82
Sensitivity and accuracy of quantitative real-time polymerase chain reaction using SYBR green I depends on cDNA synthesis conditions. Anal Biochem (2002) 2.38
Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants. Cardiovasc Res (2005) 2.08
Phenotypic diversity in hypertrophic cardiomyopathy. Hum Mol Genet (2002) 1.93
The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J (2003) 1.70
Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clin Proc (2005) 1.65
Hypertrophic cardiomyopathy in infants: clinical features and natural history. Circulation (1982) 1.64
Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. Circulation (2000) 1.39
Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet (2003) 1.28
A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. Circulation (2000) 1.26
Natural history of hypertrophic cardiomyopathy. A population-based study, 1976 through 1990. Circulation (1995) 1.21
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Heart (1998) 1.00
Genetics of neonatal cardiomyopathy. Curr Opin Cardiol (1999) 0.83
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet (2005) 3.03
Possible bradycardic mode of death and successful pacemaker treatment in a large family with features of long QT syndrome type 3 and Brugada syndrome. J Cardiovasc Electrophysiol (2001) 2.57
Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS. Hum Mol Genet (2001) 1.79
Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet (2005) 1.78
Homozygous premature truncation of the HERG protein : the human HERG knockout. Circulation (1999) 1.71
Mutations in the T (brachyury) gene cause a novel syndrome consisting of sacral agenesis, abnormal ossification of the vertebral bodies and a persistent notochordal canal. J Med Genet (2013) 1.51
Results of primary and two-stage repair of interrupted aortic arch. Eur J Cardiothorac Surg (1998) 1.49
[Genetic identification of patients and families with a long-QT syndrome: large regional differences in the result of 10 years]. Ned Tijdschr Geneeskd (2007) 1.46
Intermediate to late results of surgical relief of vascular tracheobronchial compression. Eur J Cardiothorac Surg (1992) 1.42
[Post-mortem MRI in newborns when autopsy is not permitted]. Ned Tijdschr Geneeskd (2008) 1.40
[Restrictive dermopathy: a rare, lethal genodermatosis]. Ned Tijdschr Geneeskd (2005) 1.39
Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet (2010) 1.24
Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments. Proc Natl Acad Sci U S A (1995) 1.19
[A girl with Cushing's syndrome due to primary pigmented nodular adrenocortical disease]. Ned Tijdschr Geneeskd (2006) 1.15
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet (2003) 1.13
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype. J Med Genet (1999) 1.01
Report of the Fifth International Workshop on Human Chromosome 11 Mapping 1996. Cytogenet Cell Genet (1996) 0.98
Paraneoplastic gastro-intestinal anti-Hu syndrome in neuroblastoma. Pediatr Blood Cancer (2009) 0.96
Perlman syndrome: four additional cases and review. Am J Med Genet (1999) 0.95
Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions. Clin Genet (2011) 0.93
Phenotypic discordance upon paternal or maternal transmission of duplications of the 11p15 imprinted regions. Eur J Med Genet (2009) 0.92
Surgical repair of aortopulmonary window: thirty-seven years of experience. Pediatr Cardiol (2006) 0.92
Isolation and characterization of 25 unique DNA markers for human chromosome 22. Genomics (1993) 0.92
Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy. Neth Heart J (2011) 0.91
Rendu-Osler-Weber disease: update of medical and dental considerations. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (2008) 0.90
An integrated physical map of 210 markers assigned to the short arm of human chromosome 11. Genomics (1994) 0.89
Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene. Hum Mutat (1998) 0.89
Normal very-long-chain fatty acids in peroxisomal D-bifunctional protein deficiency: a diagnostic pitfall. J Inherit Metab Dis (2005) 0.88
Physical mapping of 3 candidate tumor suppressor genes relative to Beckwith-Wiedemann syndrome associated chromosomal breakpoints at 11p15.3. Cytogenet Cell Genet (1995) 0.88
Positional cloning of genes involved in the Beckwith-Wiedemann syndrome, hemihypertrophy, and associated childhood tumors. Med Pediatr Oncol (1996) 0.88
Individualized repair of the left atrioventricular valve in spectrum of atrioventricular septal defect. J Cardiovasc Surg (Torino) (1997) 0.87
Late complications and quality of life after atrial correction of transposition of the great arteries in 12 to 18 year follow-up. J Cardiovasc Surg (Torino) (2000) 0.87
Visual depth processing in Williams-Beuren syndrome. Exp Brain Res (2005) 0.86
Atrial baffle procedures for complete transposition of the great arteries: natural course of sinus node dysfunction and risk factors for dysrhythmias and sudden death. Z Kardiol (1994) 0.86
Prenatal and postnatal investigation of a case with Miller-Dieker syndrome due to a familial cryptic translocation t(17;20) (p13.3;q13.3) detected by fluorescence in situ hybridization. Prenat Diagn (1997) 0.84
Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7. Neth Heart J (2013) 0.84
Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome. Clin Genet (2011) 0.83
Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature. Am J Med Genet A (2005) 0.83
Clinical presentations of patients with polyol abnormalities. Neuropediatrics (2004) 0.82
[Probability distribution of population forecasts]. Maandstat Bevolking (1998) 0.82
Hirschsprung disease and L1CAM: is the disturbed sex ratio caused by L1CAM mutations? J Med Genet (2002) 0.81
Rapid formation of collateral arteries in a neonate with interruption of the aortic arch. Cardiol Young (2001) 0.80
Pulmonary function in children with atrial septal defect before and after heart surgery. Heart (1998) 0.80
General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation. J Med Genet (1995) 0.80
Growth regulation of extraembryonic tissues. The effect of genomic imprinting on development of the placenta. Eur J Obstet Gynecol Reprod Biol (1997) 0.80
Founder mutations in the Netherlands: familial idiopathic ventricular fibrillation and DPP6. Neth Heart J (2011) 0.80
Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome. Neth Heart J (2010) 0.80
Mesomelic dysplasia, Kantaputra type: clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation. Am J Med Genet A (2004) 0.79
Genomic organization and chromosomal localization of a member of the MAP kinase phosphatase gene family to human chromosome 11p15.5 and a pseudogene to 10q11.2. Genomics (1997) 0.79
Refinement by linkage analysis in two large families of the candidate region of the third locus (SCA3) for autosomal dominant cerebellar ataxia type I. Hum Genet (1995) 0.79
Genomic imprinting: concept and clinical consequences. Ann Med (1999) 0.79
A novel lamin A/C mutation in a Dutch family with premature atherosclerosis. Atherosclerosis (2013) 0.79
Effect of prostaglandin E2 on the ductus arteriosus in the newborn rat. An ultrastructural study. Physiol Res (1992) 0.79
Porcine model of ruptured abdominal aortic aneurysm repair. Eur J Vasc Endovasc Surg (2012) 0.78
SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation? Cancer Genet Cytogenet (2004) 0.78
Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients. Eur J Cancer (2012) 0.78
Prenatal detection of transposition of the great arteries reduces mortality and morbidity. Ultrasound Obstet Gynecol (2015) 0.78
Regional underreporting of associated congenital anomalies in cleft patients in the Netherlands. Cleft Palate Craniofac J (2006) 0.78
Influence of competitive pulmonary blood flow on the bidirectional superior cavopulmonary shunt. A multi-institutional study. Circulation (1995) 0.78
Lung function in children and adolescents with tetralogy of Fallot after intracardiac repair. Pediatr Pulmonol (1993) 0.77
Saccade dysmetria in Williams-Beuren syndrome. Neuropsychologia (2004) 0.77
Repair of tetralogy of Fallot associated with atrioventricular septal defect. Cardiol Young (1998) 0.77
Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth. Mol Syndromol (2013) 0.76
Prenatal diagnosis of tetrasomy 9p in a 19-week-old fetus with Dandy-Walker malformation: a case report. Prenat Diagn (2004) 0.76
[Eosinophilic oesophagitis in young men with food swallowing complaints]. Ned Tijdschr Geneeskd (2005) 0.75
Clinical significance of a persistent left superior vena cava. Ultrasound Obstet Gynecol (2008) 0.75
[Agenesis of the external iliac artery and congenital heart defects. Case report of multiple vascular and organ anomalies]. Cesk Pediatr (1989) 0.75
Unexpected lethal pulmonary hypertension in a 5-year-old girl successfully treated for biliary atresia. J Pediatr Surg (1995) 0.75
[Pulmonary artery sling causing tracheal obstruction]. Rozhl Chir (1985) 0.75
[Anomalous origin of the left branch of the pulmonary artery as a cause of dyspnea in infants]. Cesk Pediatr (1984) 0.75
Results of total repair of tetralogy of Fallot after previous subclaviopulmonary or aortopulmonary anastomosis. Cor Vasa (1985) 0.75
[Torsade de pointes ventricular tachycardia in a child with cardiomyopathy]. Cesk Pediatr (1988) 0.75
Supraventricular tachycardia in a neonate with the prenatal diagnosis of a single left superior vena cava. Ultrasound Obstet Gynecol (2011) 0.75
[Echocardiography in the diagnosis of a partial congenital defect of the left part of the pericardium]. Cesk Pediatr (1989) 0.75
[Conditions imitating critical congenital heart defects]. Cesk Pediatr (1984) 0.75
[Pneumococcal infectious endocarditis in an infant (case report)]. Cesk Pediatr (1990) 0.75
[Aortoventricular tunnel--a rare cause of aortic regurgitation in the neonate]. Cesk Pediatr (1987) 0.75
[Surgical treatment of congenital vascular anomalies causing tracheoesophageal compression]. Rozhl Chir (1990) 0.75
[Cardiac arrhythmia following total correction of tetralogy of Fallot]. Z Gesamte Inn Med (1989) 0.75
[Peculiarities of cardiovascular pharmacotherapy in the neonatal period]. Cesk Pediatr (1986) 0.75
[Radical anatomic correction of transposition of great arteries in neonates. A new program of treatment of critical congenital heart defects]. Cas Lek Cesk (1996) 0.75
Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. Ann Noninvasive Electrocardiol (2013) 0.75
[Long-term treatment using prostaglandin E2 in congenital heart defects with the pulmonary circulation being supplied by a patent ductus arteriosus]. Cesk Pediatr (1985) 0.75
[Syndromes 16. Osteogenesis imperfecta]. Ned Tijdschr Tandheelkd (1999) 0.75
[Magnetic resonance imaging of the postoperative status in children with congenital heart defects]. Cesk Pediatr (1993) 0.75
[Primary repair of interrupted aortic arch in neonates]. Rozhl Chir (1998) 0.75
[New possibilities of drug therapy in congenital heart defects]. Cesk Pediatr (1983) 0.75
The physiological closure of ductus arteriosus in the rat. An ultrastructural study. Anat Embryol (Berl) (1989) 0.75
[The persistent pulmonary hypertension syndrome in neonates after intrauterine exposure to indomethacin]. Cesk Pediatr (1990) 0.75
[Therapeutic use of prostaglandins]. Cas Lek Cesk (1984) 0.75
[A pioneer camp for children after surgery of congenital heart defects]. Cesk Pediatr (1988) 0.75
[Pulmonary vascular loop--respiratory disorders caused by vascular abnormality]. Kinderarztl Prax (1986) 0.75
[Impedance audiometry and brain stem evoked potentials in premature infants, neonates, infants, and toddlers]. Cesk Otolaryngol (1987) 0.75
Feasibility and outcomes of multiplex ligation-dependent probe amplification on buccal smears as a screening method for microdeletions and duplications among 300 adults with an intellectual disability of unknown aetiology. J Intellect Disabil Res (2008) 0.75
[Problems in children after radical correction of Fallot's tetralogy]. Cesk Pediatr (1985) 0.75
Effect of the administration of prostaglandins (PGE2) in the early postnatal period on closure of the ductus arteriosus in the laboratory rat. Physiol Bohemoslov (1989) 0.75
[Surgical treatment of aorto-ventricular tunnel]. Rozhl Chir (1989) 0.75
Results of corrective surgery for tetralogy of Fallot. Cor Vasa (1985) 0.75
[Total cavopulmonary anastomosis in the surgical treatment of congenital heart defects with a functional single ventricle]. Rozhl Chir (1994) 0.75
Aortico-right ventricular tunnel with pulmonary stenosis in a neonate. Heart (2001) 0.75