Published in Nephrol Dial Transplant on February 01, 2003
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Reduced exposure to calcineurin inhibitors in renal transplantation. N Engl J Med (2007) 9.44
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet (2010) 5.72
Effect of fluvastatin on cardiac outcomes in renal transplant recipients: a multicentre, randomised, placebo-controlled trial. Lancet (2003) 4.19
Intrarenal resistive index after renal transplantation. N Engl J Med (2013) 4.19
Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr (2011) 2.57
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J (2007) 2.39
The uremic retention solute p-cresyl sulfate and markers of endothelial damage. Am J Kidney Dis (2009) 2.34
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Am J Hum Genet (2007) 2.22
Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem (2005) 2.05
Late referral of patients with chronic kidney disease: no time to waste. Mayo Clin Proc (2006) 2.04
The impact of uridine diphosphate-glucuronosyltransferase 1A9 (UGT1A9) gene promoter region single-nucleotide polymorphisms T-275A and C-2152T on early mycophenolic acid dose-interval exposure in de novo renal allograft recipients. Clin Pharmacol Ther (2005) 1.95
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res (2002) 1.91
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet (2007) 1.85
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat (2007) 1.79
VEGF: a modifier of the del22q11 (DiGeorge) syndrome? Nat Med (2003) 1.79
Natural history of parathyroid function and calcium metabolism after kidney transplantation: a single-centre study. Nephrol Dial Transplant (2004) 1.75
Human laterality disorders. Eur J Med Genet (2006) 1.74
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
Donor age and renal P-glycoprotein expression associate with chronic histological damage in renal allografts. J Am Soc Nephrol (2009) 1.69
p-Cresol and cardiovascular risk in mild-to-moderate kidney disease. Clin J Am Soc Nephrol (2010) 1.66
Early clinical assessment of glucose metabolism in renal allograft recipients: diagnosis and prediction of post-transplant diabetes mellitus (PTDM). Nephrol Dial Transplant (2008) 1.63
Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet (2007) 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
Bartter's and Gitelman's syndromes: from gene to clinic. Nephron Physiol (2004) 1.54
Prospective study on late consequences of subclinical non-compliance with immunosuppressive therapy in renal transplant patients. Am J Transplant (2004) 1.54
Cyclosporine withdrawal from a mycophenolate mofetil-containing immunosuppressive regimen in stable kidney transplant recipients: a randomized, controlled study. Transplantation (2002) 1.50
Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet (2005) 1.46
Troponin I is a predictor of acute cardiac events in the immediate postoperative renal transplant period. Transplantation (2010) 1.45
Expanding the donor pool to increase renal transplantation. Nephrol Dial Transplant (2004) 1.43
Impact of vascular calcification on corrected QT interval at the time of renal transplantation. Am J Nephrol (2011) 1.42
Safety of meglumine gadoterate (Gd-DOTA)-enhanced MRI compared to unenhanced MRI in patients with chronic kidney disease (RESCUE study). Eur Radiol (2012) 1.42
Great vessel development requires biallelic expression of Chd7 and Tbx1 in pharyngeal ectoderm in mice. J Clin Invest (2009) 1.40
Pulmonary atresia/ventricular septal defect associated with facial port-wine stain and retinal vascular abnormality: a new constellation or deletion in chromosome 22q11.2? Am J Med Genet A (2005) 1.38
Nephrogenic fibrosing dermopathy: a novel, disabling disorder in patients with renal failure. Nephrol Dial Transplant (2004) 1.38
SCAMP5, NBEA and AMISYN: three candidate genes for autism involved in secretion of large dense-core vesicles. Hum Mol Genet (2010) 1.38
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet (2005) 1.37
p-Cresyl sulfate and indoxyl sulfate in hemodialysis patients. Clin J Am Soc Nephrol (2009) 1.36
Multidrug resistance protein 2 genetic polymorphisms influence mycophenolic acid exposure in renal allograft recipients. Transplantation (2006) 1.33
Duffy and Kidd blood group antigens: minor histocompatibility antigens involved in renal allograft rejection? Transfusion (2007) 1.31
Five-year safety and efficacy of belatacept in renal transplantation. J Am Soc Nephrol (2010) 1.31
Parathyroidectomy after successful kidney transplantation: a single centre study. Nephrol Dial Transplant (2007) 1.31
Gastrointestinal side effects of mycophenolic acid in renal transplant patients: a reappraisal. Nephrol Dial Transplant (2007) 1.30
Belatacept-based regimens versus a cyclosporine A-based regimen in kidney transplant recipients: 2-year results from the BENEFIT and BENEFIT-EXT studies. Transplantation (2010) 1.28
p-Cresyl sulfate serum concentrations in haemodialysis patients are reduced by the prebiotic oligofructose-enriched inulin. Nephrol Dial Transplant (2009) 1.26
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16. Nat Genet (2013) 1.23
Nonadherence with diet and fluid restrictions among adults having hemodialysis. J Nurs Scholarsh (2005) 1.22
Risk factors for cardiovascular events after successful renal transplantation. Transplantation (2008) 1.21
Fibroblast growth factor-23 in early chronic kidney disease: additional support in favor of a phosphate-centric paradigm for the pathogenesis of secondary hyperparathyroidism. Clin J Am Soc Nephrol (2010) 1.21
FTY720, a novel immunomodulator: efficacy and safety results from the first phase 2A study in de novo renal transplantation. Transplantation (2005) 1.21
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. Eur J Hum Genet (2011) 1.20
Predictive testing for hereditary nonpolyposis colorectal cancer: subjective perception regarding colorectal and endometrial cancer, distress, and health-related behavior at one year post-test. Genet Test (2005) 1.19
Immunogenicity of a standard trivalent influenza vaccine in patients on long-term hemodialysis: an open-label trial. Am J Kidney Dis (2009) 1.18
Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect. Dev Med Child Neurol (2005) 1.17
Removal of middle molecules and protein-bound solutes by peritoneal dialysis and relation with uremic symptoms. Kidney Int (2003) 1.17
Minimum prevalence, birth incidence and cause of death for Prader-Willi syndrome in Flanders. Eur J Hum Genet (2004) 1.16
Improved adherence to tacrolimus once-daily formulation in renal recipients: a randomized controlled trial using electronic monitoring. Transplantation (2013) 1.16
Long-term efficacy and tolerability of lanthanum carbonate: results from a 3-year study. Nephron Clin Pract (2005) 1.15
Fetal surgery is a clinical reality. Semin Fetal Neonatal Med (2009) 1.15
Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis. Hum Mutat (2007) 1.13
Clinical efficacy and toxicity profile of tacrolimus and mycophenolic acid in relation to combined long-term pharmacokinetics in de novo renal allograft recipients. Clin Pharmacol Ther (2004) 1.12
Renal clearance and intestinal generation of p-cresyl sulfate and indoxyl sulfate in CKD. Clin J Am Soc Nephrol (2013) 1.10
GATA-3 in human T cell helper type 2 development. J Exp Med (2004) 1.09
Adjuvant low-dose cidofovir therapy for BK polyomavirus interstitial nephritis in renal transplant recipients. Am J Transplant (2005) 1.09
Cardiovascular risk and renal transplantation: post hoc analyses of the Assessment of Lescol in Renal Transplantation (ALERT) Study. Am J Kidney Dis (2005) 1.08
An integrated safety profile analysis of belatacept in kidney transplant recipients. Transplantation (2010) 1.08
Recovery of hyperphosphatoninism and renal phosphorus wasting one year after successful renal transplantation. Clin J Am Soc Nephrol (2008) 1.07
Subtelomeric imbalances in phenotypically normal individuals. Hum Mutat (2007) 1.07
Mutation analysis in Costello syndrome: functional and structural characterization of the HRAS p.Lys117Arg mutation. Hum Mutat (2008) 1.07
Time-related clinical determinants of long-term tacrolimus pharmacokinetics in combination therapy with mycophenolic acid and corticosteroids: a prospective study in one hundred de novo renal transplant recipients. Clin Pharmacokinet (2004) 1.06
Removal of the protein-bound solute p-cresol by convective transport: a randomized crossover study. Am J Kidney Dis (2004) 1.06
Narrowing the critical deletion region for autism spectrum disorders on 16p11.2. Am J Med Genet B Neuropsychiatr Genet (2011) 1.06
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. Eur J Hum Genet (2007) 1.06
Evidence for impaired assimilation of protein in chronic renal failure. Kidney Int (2003) 1.06
Predicting renal graft failure using multivariate longitudinal profiles. Biostatistics (2007) 1.05
Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Hum Mutat (2011) 1.05
Current target ranges of mycophenolic acid exposure and drug-related adverse events: a 5-year, open-label, prospective, clinical follow-up study in renal allograft recipients. Clin Ther (2008) 1.05
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot. Hum Mol Genet (2013) 1.04
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. Am J Med Genet A (2005) 1.04
Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet (2010) 1.04
Novel TBX5 mutations in patients with Holt-Oram syndrome. Clin Orthop Relat Res (2007) 1.04
A pilot study on the use of the humanized anti-interleukin-2 receptor antibody daclizumab in active ulcerative colitis. Am J Gastroenterol (2003) 1.03
Pierpont syndrome: a collaborative study. Am J Med Genet A (2011) 1.03
Progressive AV-block and anomalous venous return among cardiac anomalies associated with two novel missense mutations in the CSX/NKX2-5 gene. Hum Mutat (2002) 1.02
Reduced C0 concentrations and increased dose requirements in renal allograft recipients converted to the novel once-daily tacrolimus formulation. Transplantation (2010) 1.02
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet (2011) 1.02
Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome. Circulation (2005) 1.00
The value of tuberculin skin testing in haemodialysis patients. Nephrol Dial Transplant (2004) 0.99
Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death. Heart Rhythm (2004) 0.99
Chromosome 10p deletion in a patient with hypoparathyroidism, severe mental retardation, autism and basal ganglia calcifications. Ann Genet (2004) 0.99
Prometheus versus molecular adsorbents recirculating system: comparison of efficiency in two different liver detoxification devices. Artif Organs (2006) 0.99
FTY720 combined with tacrolimus in de novo renal transplantation: 1-year, multicenter, open-label randomized study. Nephrol Dial Transplant (2011) 0.99
Inflammation in renal transplantation. Clin J Am Soc Nephrol (2009) 0.99