Published in Hum Genet on April 04, 2013
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Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet (2012) 2.12
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Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. Hum Mol Genet (2007) 1.52
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Normal adult height after steroid-withdrawal within 6 months of pediatric kidney transplantation: a 20 years single center experience. Transpl Int (2011) 1.46
The effect of sevelamer on the pharmacokinetics of cyclosporin A and mycophenolate mofetil after renal transplantation. Nephrol Dial Transplant (2004) 1.42
Steroid-resistant idiopathic childhood nephrosis: overdiagnosed and undertreated. Nephrol Dial Transplant (2007) 1.41
Hemophagocytic lymphohistiocytosis and Kawasaki disease: combined manifestation and differential diagnosis. Pediatr Blood Cancer (2009) 1.31
Comprehensive analysis of genomic alterations in gliosarcoma and its two tissue components. Genes Chromosomes Cancer (2002) 1.29
Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet (2012) 1.28
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DNA methylation analysis by bisulfite conversion, cloning, and sequencing of individual clones. Methods Mol Biol (2009) 1.26
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet (2011) 1.24
A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients. Eur J Hum Genet (2009) 1.20
Molecular classification of diffuse cerebral WHO grade II/III gliomas using genome- and transcriptome-wide profiling improves stratification of prognostically distinct patient groups. Acta Neuropathol (2015) 1.16
Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases. PLoS Genet (2012) 1.14
DNA-methylome analysis of mouse intestinal adenoma identifies a tumour-specific signature that is partly conserved in human colon cancer. PLoS Genet (2013) 1.13
Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet (2011) 1.11
Overexpression of far upstream element binding proteins: a mechanism regulating proliferation and migration in liver cancer cells. Hepatology (2009) 1.09
Reference values of aortic pulse wave velocity in a large healthy population aged between 3 and 18 years. J Hypertens (2013) 1.08
Activation of the AKT/mTOR pathway in autosomal recessive polycystic kidney disease (ARPKD). Nephrol Dial Transplant (2009) 1.08
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Identification of a novel essential two-component signal transduction system, YhcSR, in Staphylococcus aureus. J Bacteriol (2005) 1.05
Paediatric reference values for the C-terminal fragment of fibroblast-growth factor-23, sclerostin, bone-specific alkaline phosphatase and isoform 5b of tartrate-resistant acid phosphatase. Ann Clin Biochem (2012) 1.02
Effect of renal transplantation in childhood on longitudinal growth and adult height. Kidney Int (2004) 1.02
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Intrarenal abscesses due to Ureaplasma urealyticum in a transplanted kidney. J Clin Microbiol (2007) 1.00
Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions. Eur J Hum Genet (2010) 1.00
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Cantú syndrome resulting from activating mutation in the KCNJ8 gene. Hum Mutat (2014) 0.98
Factors predicting the near-final height in growth hormone-treated children and adolescents with chronic kidney disease. J Clin Endocrinol Metab (2008) 0.98
Diabetes-associated microRNAs in pediatric patients with type 1 diabetes mellitus: a cross-sectional cohort study. J Clin Endocrinol Metab (2014) 0.97
Cinacalcet for secondary hyperparathyroidism in children with end-stage renal disease. Pediatr Nephrol (2008) 0.97
Comprehensive characterization of genomic aberrations in gangliogliomas by CGH, array-based CGH and interphase FISH. Brain Pathol (2008) 0.97
Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles. Genome Biol (2013) 0.97
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Overexpression of the IGF2-mRNA binding protein p62 in transgenic mice induces a steatotic phenotype. J Hepatol (2010) 0.96
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet (2014) 0.96
Isolated sarcoid granulomatous interstitial nephritis responding to infliximab therapy. Am J Kidney Dis (2005) 0.93
Identification of genomic aberrations associated with shorter overall survival in patients with oligodendroglial tumors. Int J Cancer (2007) 0.93
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Ann Neurol (2003) 0.93
Genome-wide pooling approach identifies SPATA5 as a new susceptibility locus for alopecia areata. Eur J Hum Genet (2011) 0.92
Molecular characterization of long-term survivors of glioblastoma using genome- and transcriptome-wide profiling. Int J Cancer (2014) 0.91
Neurological involvement in children with E. coli O104:H4-induced hemolytic uremic syndrome. Pediatr Nephrol (2014) 0.90
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Genetic alterations commonly found in diffusely infiltrating cerebral gliomas are rare or absent in pleomorphic xanthoastrocytomas. J Neuropathol Exp Neurol (2002) 0.90
NPHS2 mutation associated with recurrence of proteinuria after transplantation. Pediatr Nephrol (2004) 0.90
CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT). Nephrol Dial Transplant (2011) 0.89
Pediatric reference values of carotid-femoral pulse wave velocity determined with an oscillometric device. J Hypertens (2012) 0.88
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Fibroblast growth factor (FGF)-23 and fetuin-A in calcified carotid atheroma. Histopathology (2010) 0.87
Genetic alterations of HLA-class II in ovarian cancer. Int J Cancer (2008) 0.87
Impaired skin microcirculation in paediatric patients with type 1 diabetes mellitus. Cardiovasc Diabetol (2013) 0.87
Growth and maturation improvement in children on renal replacement therapy over the past 20 years. Pediatr Nephrol (2013) 0.86
A randomized crossover trial comparing sevelamer with calcium acetate in children with CKD. Am J Kidney Dis (2006) 0.86
Growth impairment shows an age-dependent pattern in boys with chronic kidney disease. Pediatr Nephrol (2006) 0.86
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Prematurity, small for gestational age and perinatal parameters in children with congenital, hereditary and acquired chronic kidney disease. Nephrol Dial Transplant (2010) 0.84
Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. Hum Genet (2011) 0.84
Short-term growth hormone treatment and microcirculation: effects in patients with chronic kidney disease. Microvasc Res (2009) 0.84
De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. Eur J Hum Genet (2013) 0.84
A phenotype map for 14q32.3 terminal deletions. Am J Med Genet A (2012) 0.84
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Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a non-cysteine mutation (T50M) in the TNFRSF1A gene associated with severe multiorganic amyloidosis. J Rheumatol (2004) 0.83
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