Published in J Heart Valve Dis on May 01, 2009
Aortic valve calcification in mild primary hyperparathyroidism. J Clin Endocrinol Metab (2011) 0.96
Mineral metabolism and cardiovascular disease in CKD. Clin Exp Nephrol (2017) 0.79
Can parathyroid hormone be used as a biomarker for heart failure? Heart Fail Rev (2013) 0.76
Relationship of bone mineral density with valvular and annular calcification in community-dwelling older people: The Cardiovascular Health Study. Arch Osteoporos (2017) 0.75
Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med (2002) 6.94
Genetic loci influencing kidney function and chronic kidney disease. Nat Genet (2010) 3.75
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet (2002) 3.21
Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet (2008) 2.74
Impact of left ventricular lead position in cardiac resynchronization therapy on left ventricular remodelling. A circumferential strain analysis based on 2D echocardiography. Eur Heart J (2007) 2.59
Myocardial strain measurement with 2-dimensional speckle-tracking echocardiography: definition of normal range. JACC Cardiovasc Imaging (2009) 2.47
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet (2005) 2.38
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet (2003) 2.27
Analysis of myocardial deformation based on ultrasonic pixel tracking to determine transmurality in chronic myocardial infarction. Eur Heart J (2006) 2.20
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet (2005) 2.04
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome. Hum Mutat (2008) 2.03
MitraClip® therapy in patients with end-stage systolic heart failure. Eur J Heart Fail (2011) 1.95
Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation. Arch Neurol (2003) 1.81
Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery disease. Atherosclerosis (2009) 1.80
Percutaneous transvenous mitral annuloplasty: initial human experience with a novel coronary sinus implant device. Circ Cardiovasc Interv (2009) 1.77
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). J Am Soc Nephrol (2003) 1.70
Chemokine receptor (CCR2) genotype is associated with myocardial infarction and heart failure in patients under 65 years of age. J Mol Med (Berl) (2003) 1.63
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutations. Neurology (2013) 1.61
The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. J Am Soc Nephrol (2002) 1.60
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int (2005) 1.55
Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. Cancer Res (2009) 1.53
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration. Nat Genet (2012) 1.52
Stress/rest myocardial perfusion scintigraphy in patients without significant coronary artery disease. J Nucl Cardiol (2009) 1.52
Evidence for a modifying pathway in SMA discordant families: reduced SMN level decreases the amount of its interacting partners and Htra2-beta1. Hum Genet (2003) 1.52
High-dose 7-hexanoyltaxol-eluting stent with polymer sleeves for coronary revascularization: one-year results from the SCORE randomized trial. J Am Coll Cardiol (2004) 1.52
Additive effects of the chemokine receptor 2, vitamin D receptor, interleukin-6 polymorphisms and cardiovascular risk factors on the prevalence of myocardial infarction in patients below 65 years. Int J Cardiol (2005) 1.51
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet (2007) 1.50
Paclitaxel-eluting balloon versus everolimus-eluting stent for treatment of drug-eluting stent restenosis. Catheter Cardiovasc Interv (2013) 1.49
Dependency of cardiac resynchronization therapy on myocardial viability at the LV lead position. JACC Cardiovasc Imaging (2011) 1.47
Treatment of in-stent restenosis using a paclitaxel-eluting stent: acute results and long-term follow-up of a matched-pair comparison with intracoronary beta-radiation therapy. Eur Heart J (2004) 1.45
Blockade of angio-associated migratory cell protein inhibits smooth muscle cell migration and neointima formation in accelerated atherosclerosis. J Am Coll Cardiol (2008) 1.43
Identification and characterization of Pkhd1, the mouse orthologue of the human ARPKD gene. J Am Soc Nephrol (2002) 1.41
Genetic heterogeneity in Italian families with IgA nephropathy: suggestive linkage for two novel IgA nephropathy loci. Am J Hum Genet (2006) 1.41
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat (2004) 1.40
Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet (2011) 1.40
Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol (2011) 1.38
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet (2013) 1.32
Myocardial deformation imaging based on ultrasonic pixel tracking to identify reversible myocardial dysfunction. J Am Coll Cardiol (2008) 1.32
A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD). Hepatology (2005) 1.31
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain (2013) 1.29
Determination of SMN1 and SMN2 copy number using TaqMan technology. Hum Mutat (2003) 1.28
Cystinuria: an inborn cause of urolithiasis. Orphanet J Rare Dis (2012) 1.27
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). Ann Neurol (2003) 1.26
Effect of CACNA1C rs1006737 on neural correlates of verbal fluency in healthy individuals. Neuroimage (2009) 1.25
Advanced speckle tracking echocardiography allowing a three-myocardial layer-specific analysis of deformation parameters. Eur J Echocardiogr (2008) 1.24
Optimized guidance of percutaneous edge-to edge repair of the mitral valve using real-time 3-D transesophageal echocardiography. Clin Res Cardiol (2011) 1.19
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. Hum Mutat (2007) 1.17
Multiple colon carcinomas in a patient with Cowden syndrome. Int J Mol Med (2006) 1.17
Extended phenotype of pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A (2003) 1.17
Autosomal-dominant distal myopathy associated with a recurrent missense mutation in the gene encoding the nuclear matrix protein, matrin 3. Am J Hum Genet (2009) 1.16
Genes and the preeclampsia syndrome. J Perinat Med (2008) 1.14
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations. J Am Soc Nephrol (2003) 1.13
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Hum Mol Genet (2003) 1.13
Augmentation of left ventricular contractility by cardiac sympathetic neural stimulation. Circulation (2010) 1.12
Prediction of clinical outcome after mechanical revascularization in acute myocardial infarction by markers of myocardial reperfusion. J Am Coll Cardiol (2003) 1.12
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings. J Med Genet (2007) 1.10
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Brain (2003) 1.10
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain (2003) 1.10
Digital necroses and vascular thrombosis in severe spinal muscular atrophy. Muscle Nerve (2010) 1.08
Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany. Nephrol Dial Transplant (2013) 1.08
Mutations in TRPV4 cause an inherited arthropathy of hands and feet. Nat Genet (2011) 1.07
Correction of mitral regurgitation in nonresponders to cardiac resynchronization therapy by MitraClip improves symptoms and promotes reverse remodeling. J Am Coll Cardiol (2011) 1.07
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat (2004) 1.06
Impact of left ventricular lead position on the efficacy of cardiac resynchronisation therapy: a two-dimensional strain echocardiography study. Heart (2007) 1.06
A novel drug-eluting stent coated with an integrin-binding cyclic Arg-Gly-Asp peptide inhibits neointimal hyperplasia by recruiting endothelial progenitor cells. J Am Coll Cardiol (2006) 1.06
Real-time transesophageal three-dimensional echocardiography for guidance of percutaneous cardiac interventions: first experience. Clin Res Cardiol (2008) 1.05
Comparison of two-dimensional and three-dimensional imaging techniques for measurement of aortic annulus diameters before transcatheter aortic valve implantation. Heart (2011) 1.05
Use of multilocus methylation-specific single nucleotide primer extension (MS-SNuPE) technology in diagnostic testing for human imprinted loci. Epigenetics (2012) 1.04
Multislice spiral computed tomography for the detection of coronary stent restenosis and patency. Int J Cardiol (2003) 1.04
Association of aortic valve calcification severity with the degree of aortic regurgitation after transcatheter aortic valve implantation. Int J Cardiol (2010) 1.03
Pontocerebellar hypoplasia. Am J Med Genet C Semin Med Genet (2014) 1.03
Systemic and local levels of fetuin-A in calcific aortic valve stenosis. Int J Mol Med (2007) 1.02
Impact of infarct transmurality on layer-specific impairment of myocardial function: a myocardial deformation imaging study. Eur Heart J (2009) 1.02
Aortic valve calcification as a marker for aortic stenosis severity: assessment on 16-MDCT. AJR Am J Roentgenol (2004) 1.01
Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. Kidney Int (2002) 1.01
The amount of calcium-deficient hexagonal hydroxyapatite in aortic valves is influenced by gender and associated with genetic polymorphisms in patients with severe calcific aortic stenosis. Eur Heart J (2004) 1.01
Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies. FEBS Lett (2005) 1.00
Perinatal deaths in a family with autosomal dominant polycystic kidney disease and a PKD2 mutation. N Engl J Med (2008) 1.00
Impact of left ventricular loading conditions on myocardial deformation parameters: analysis of early and late changes of myocardial deformation parameters after aortic valve replacement. J Am Soc Echocardiogr (2007) 0.99
Recommendations for transoesophageal echocardiography: EACVI update 2014. Eur Heart J Cardiovasc Imaging (2014) 0.99
Acetylcholine as an age-dependent non-neuronal source in the heart. Auton Neurosci (2010) 0.98
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat (2005) 0.98
Rotational atherectomy does not reduce recurrent in-stent restenosis: results of the angioplasty versus rotational atherectomy for treatment of diffuse in-stent restenosis trial (ARTIST). Circulation (2002) 0.97
Long-term assessment of a novel biodegradable paclitaxel-eluting coronary polylactide stent. Eur Heart J (2004) 0.97
Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features. J Pediatr (2012) 0.96
Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients. Eur J Obstet Gynecol Reprod Biol (2012) 0.96
Diagnostic proceeding in Silver-Russell syndrome. Mol Diagn (2005) 0.96
Clinical and genetic heterogeneity in Desbuquois dysplasia. Am J Med Genet A (2004) 0.96
Mechanisms mediating parallel action monitoring in fronto-striatal circuits. Neuroimage (2012) 0.95
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. J Invest Dermatol (2002) 0.95
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4. J Invest Dermatol (2007) 0.94
Repeated assessment of coronary flow velocity pattern in patients with first acute myocardial infarction. J Am Coll Cardiol (2002) 0.93
Impact of systolic and diastolic deformation indexes assessed by strain-encoded imaging to predict persistent severe myocardial dysfunction in patients after acute myocardial infarction at follow-up. J Am Coll Cardiol (2010) 0.93