Published in Nephrol Dial Transplant on February 07, 2008
Posterior reversible encephalopathy syndrome in children with kidney diseases. Pediatr Nephrol (2011) 1.18
Cyclosporine and steroid therapy in children with steroid-resistant nephrotic syndrome. Pediatr Nephrol (2009) 1.00
Thromboembolic complications in childhood nephrotic syndrome: a clinical profile. Clin Exp Nephrol (2013) 0.93
Epidemiology and predictors of end-stage renal disease in Taiwanese children with idiopathic nephrotic syndrome. J Epidemiol (2012) 0.92
Age and gender may affect posterior reversible encephalopathy syndrome in renal disease. Pediatr Nephrol (2011) 0.89
Children with posterior reversible encephalopathy syndrome associated with atypical diffusion-weighted imaging and apparent diffusion coefficient. Clin Exp Nephrol (2010) 0.87
Cyclosporine C2 monitoring for the treatment of frequently relapsing nephrotic syndrome in children: a multicenter randomized phase II trial. Clin J Am Soc Nephrol (2013) 0.86
Clinical practice guideline for pediatric idiopathic nephrotic syndrome 2013: medical therapy. Clin Exp Nephrol (2015) 0.85
Reversible posterior leukoencephalopathy syndrome in a young adult patient receiving peritoneal dialysis. Perit Dial Int (2012) 0.81
Reversible posterior leukoencephalopathy syndrome secondary to systemic-onset juvenile idiopathic arthritis: A case report and review of the literature. Biomed Rep (2014) 0.79
Posterior Reversible Encephalopathy Syndrome during Recovery from Acute Kidney Injury after Hepatitis A Infection. Case Rep Nephrol Urol (2012) 0.76
Posterior reversible encephalopathy syndrome due to hyponatremia. J Epilepsy Res (2014) 0.75
Successful treatment by mycophenolate mofetil in a patient with focal segmental glomerulosclerosis associated with posterior reversible encephalopathy syndrome. CEN Case Rep (2014) 0.75
A Study of Eclampsia Cases Associated with Posterior Reversible Encephalopathy Syndrome. J Clin Diagn Res (2015) 0.75
Ciprofloxacin-associated posterior reversible encephalopathy. BMJ Case Rep (2013) 0.75
Posterior reversible encephalopathy syndrome in children with kidney disease. Int Urol Nephrol (2017) 0.75
Posterior reversible encephalopathy syndrome with exercise-induced acute kidney injury in renal hypouricemia type 1. Eur J Pediatr (2013) 0.75
Posterior reversible encephalopathy syndrome in a patient with hepatitis B induced type 1 membranoproliferative glomerulonephritis. Clin Exp Nephrol (2010) 0.75
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Establishment of sandwich ELISA for soluble alpha-Klotho measurement: Age-dependent change of soluble alpha-Klotho levels in healthy subjects. Biochem Biophys Res Commun (2010) 2.20
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet (2008) 2.16
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med (2016) 2.15
A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression. J Biol Chem (2001) 1.97
Renal disease in the elderly and the very elderly Japanese: analysis of the Japan Renal Biopsy Registry (J-RBR). Clin Exp Nephrol (2012) 1.95
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat (2010) 1.83
Pravastatin improves renal ischemia-reperfusion injury by inhibiting the mevalonate pathway. Kidney Int (2008) 1.67
Prospective 5-year follow-up of cyclosporine treatment in children with steroid-resistant nephrosis. Pediatr Nephrol (2013) 1.60
Morbidity in children with frequently relapsing nephrosis: 10-year follow-up of a randomized controlled trial. Pediatr Nephrol (2014) 1.53
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab (2004) 1.51
Disruption of aquaporin-11 produces polycystic kidneys following vacuolization of the proximal tubule. Mol Cell Biol (2005) 1.48
An infantile case of Hinman syndrome with severe acute renal failure. Clin Exp Nephrol (2008) 1.42
Unexpectedly high prevalence of pretransplant abnormal glucose tolerance in pediatric kidney transplant recipients. Pediatr Transplant (2006) 1.41
Superior mesenteric artery syndrome: risk factor for duodenal involvement in Henoch-Schönlein purpura. Pediatr Int (2011) 1.39
Henoch-Schönlein purpura nephritis with nephrotic state in children: predictors of poor outcomes. Pediatr Nephrol (2011) 1.34
Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human. Nat Med (2007) 1.32
Age, gender, and body length effects on reference serum creatinine levels determined by an enzymatic method in Japanese children: a multicenter study. Clin Exp Nephrol (2011) 1.31
Steroid treatment for severe childhood IgA nephropathy: a randomized, controlled trial. Clin J Am Soc Nephrol (2006) 1.24
Contrast-enhanced MRI of an early preosseous lesion of fibrodysplasia ossificans progressiva in a 21-month-old boy. AJR Am J Roentgenol (2003) 1.19
Posterior reversible encephalopathy syndrome in children: its high prevalence and more extensive imaging findings. Am J Kidney Dis (2006) 1.19
Posterior reversible encephalopathy syndrome in children with kidney diseases. Pediatr Nephrol (2011) 1.18
Japan Renal Biopsy Registry and Japan Kidney Disease Registry: Committee Report for 2009 and 2010. Clin Exp Nephrol (2013) 1.17
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet (2008) 1.15
Elevation of serum Krebs von den Lunge-6 levels in patients with tubulointerstitial nephritis and uveitis syndrome. Am J Kidney Dis (2006) 1.14
The 1998 report of the Japanese National Registry data on pediatric end-stage renal disease patients. Pediatr Nephrol (2002) 1.13
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. Am J Hum Genet (2011) 1.13
A recurrent mutation in type II collagen gene causes Legg-Calvé-Perthes disease in a Japanese family. Hum Genet (2007) 1.13
Large fontanelles are a shared feature of haploinsufficiency of RUNX2 and its co-activator CBFB. Congenit Anom (Kyoto) (2004) 1.12
Prenatal diagnosis of hypochondrogenesis using fetal MRI: a case report. Pediatr Radiol (2002) 1.11
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet (2013) 1.11
Creatinine-based equation to estimate the glomerular filtration rate in Japanese children and adolescents with chronic kidney disease. Clin Exp Nephrol (2013) 1.10
The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva. J Hum Genet (2007) 1.10
Segmental and full paternal isodisomy for chromosome 14 in three patients: narrowing the critical region and implication for the clinical features. Am J Med Genet A (2005) 1.10
The impact of repeated subclinical acute rejection on the progression of chronic allograft nephropathy. J Am Soc Nephrol (2003) 1.09
Japan Renal Biopsy Registry: the first nationwide, web-based, and prospective registry system of renal biopsies in Japan. Clin Exp Nephrol (2011) 1.08
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. Hum Genet (2004) 1.08
Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. J Clin Endocrinol Metab (2009) 1.08
Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int (2005) 1.07
Membranoproliferative glomerulonephritis in a patient with X-linked agammaglobulinemia. Pediatr Nephrol (2005) 1.07
Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotype. Eur J Hum Genet (2012) 1.07
Hepatocellular carcinoma with extensive peliotic change. J Hepatobiliary Pancreat Surg (2009) 1.07
FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet (2013) 1.06
Decreased abundance of urinary exosomal aquaporin-1 in renal ischemia-reperfusion injury. Am J Physiol Renal Physiol (2009) 1.06
Glutamate mediates platelet activation through the AMPA receptor. J Exp Med (2008) 1.04
Combination therapy with mizoribine for severe childhood IgA nephropathy: a pilot study. Pediatr Nephrol (2008) 1.04
Antenatal three-dimensional sonographic features of Roberts syndrome. Arch Gynecol Obstet (2011) 1.03
Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients. Am J Med Genet A (2013) 1.03
Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia. Hum Mutat (2004) 1.02
Paternal UPD14 is responsible for a distinctive malformation complex. Am J Med Genet (2002) 1.02
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A (2011) 1.02
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet (2011) 1.02
Two-year outcome of the ISKDC regimen and frequent-relapsing risk in children with idiopathic nephrotic syndrome. Clin J Am Soc Nephrol (2013) 1.02
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Am J Med Genet A (2010) 1.01
Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia. Hum Genet (2002) 1.01
Cyclosporine and steroid therapy in children with steroid-resistant nephrotic syndrome. Pediatr Nephrol (2009) 1.00
IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. Clin Endocrinol (Oxf) (2013) 1.00
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. J Med Genet (2010) 0.99
Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: diagnostic value of urine steroid hormone analysis. Pediatr Res (2006) 0.99
Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification. J Bone Miner Metab (2006) 0.98
Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia. Am J Hum Genet (2009) 0.98
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. Am J Med Genet A (2012) 0.98
Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population. Am J Med Genet A (2006) 0.97
A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients. Skeletal Radiol (2009) 0.97
A new Ehlers-Danlos syndrome with craniofacial characteristics, multiple congenital contractures, progressive joint and skin laxity, and multisystem fragility-related manifestations. Am J Med Genet A (2010) 0.97
Clinical and radiological findings in Pallister-Killian syndrome. Eur J Med Genet (2012) 0.97
Endovascular stent-grafting for infected iliac artery pseudoaneurysms. Cardiovasc Intervent Radiol (2005) 0.96
Reference ranges for serum cystatin C measurements in Japanese children by using 4 automated assays. Clin Exp Nephrol (2013) 0.96
PAPSS2 mutations cause autosomal recessive brachyolmia. J Med Genet (2012) 0.95
Microdeletion in the SHOX 3' region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/46,X,r(X) infant and Leri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. Am J Med Genet A (2005) 0.95
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients. Am J Med Genet A (2012) 0.95
The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type. J Med Genet (2007) 0.94
Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia. J Hum Genet (2013) 0.94