Published in Hum Mutat on July 01, 2005
Advances in Alport syndrome diagnosis using next-generation sequencing. Eur J Hum Genet (2011) 1.17
COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. J Am Soc Nephrol (2013) 1.16
Alport syndrome--insights from basic and clinical research. Nat Rev Nephrol (2012) 1.14
Improving mutation screening in familial hematuric nephropathies through next generation sequencing. J Am Soc Nephrol (2014) 1.08
X-linked Alport syndrome caused by splicing mutations in COL4A5. Clin J Am Soc Nephrol (2014) 0.88
Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patients. Pediatr Nephrol (2008) 0.79
Long-term treatment by ACE inhibitors and angiotensin receptor blockers in children with Alport syndrome. Pediatr Nephrol (2015) 0.77
Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy. Pediatr Nephrol (2016) 0.75
Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome. Eur J Hum Genet (2015) 0.75
A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family. Genet Test Mol Biomarkers (2013) 0.75
Accelerated podocyte detachment and progressive podocyte loss from glomeruli with age in Alport Syndrome. Kidney Int (2017) 0.75
ARB: a software environment for sequence data. Nucleic Acids Res (2004) 58.27
Intensive Supportive Care plus Immunosuppression in IgA Nephropathy. N Engl J Med (2015) 4.78
X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study. J Am Soc Nephrol (2003) 2.12
Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations. Kidney Int (2012) 1.87
Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. J Am Soc Nephrol (2013) 1.52
Delayed chemokine receptor 1 blockade prolongs survival in collagen 4A3-deficient mice with Alport disease. J Am Soc Nephrol (2005) 1.19
Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative. Pediatr Nephrol (2012) 1.17
Alport syndrome--insights from basic and clinical research. Nat Rev Nephrol (2012) 1.14
Integrin α2-deficient mice provide insights into specific functions of collagen receptors in the kidney. Fibrogenesis Tissue Repair (2010) 0.96
Plasma leakage through glomerular basement membrane ruptures triggers the proliferation of parietal epithelial cells and crescent formation in non-inflammatory glomerular injury. J Pathol (2012) 0.95
Drug-induced granulomatous interstitial nephritis in a patient with ankylosing spondylitis during therapy with adalimumab. Am J Kidney Dis (2010) 0.95
Inner ear defects and hearing loss in mice lacking the collagen receptor DDR1. Lab Invest (2007) 0.94
Bacterial CpG-DNA accelerates Alport glomerulosclerosis by inducing an M1 macrophage phenotype and tumor necrosis factor-α-mediated podocyte loss. Kidney Int (2010) 0.94
Nephroprotective effect of the HMG-CoA-reductase inhibitor cerivastatin in a mouse model of progressive renal fibrosis in Alport syndrome. Nephrol Dial Transplant (2007) 0.93
Tumour necrosis factor-α drives Alport glomerulosclerosis in mice by promoting podocyte apoptosis. J Pathol (2011) 0.92
Lithium triborate laser vaporization of the prostate using the 120 W, high performance system laser: high performance all the way? J Urol (2011) 0.91
Gitelman syndrome. Hypertension (2009) 0.90
Ccl2/Mcp-1 blockade reduces glomerular and interstitial macrophages but does not ameliorate renal pathology in collagen4A3-deficient mice with autosomal recessive Alport nephropathy. J Pathol (2009) 0.87
Outcomes of male patients with Alport syndrome undergoing renal replacement therapy. Clin J Am Soc Nephrol (2012) 0.86
Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy. J Am Soc Nephrol (2006) 0.85
Bone marrow transplantation rescues Alport mice. Nephrol Dial Transplant (2006) 0.84
Interstitial inflammation in Alport syndrome. Hum Pathol (2009) 0.83
Discoidin domain receptor 1 protein is a novel modulator of megakaryocyte-collagen interactions. J Biol Chem (2013) 0.82
Diagnosis of Alport syndrome--search for proteomic biomarkers in body fluids. Pediatr Nephrol (2013) 0.81
Mycophenolic acid displays IMPDH-dependent and IMPDH-independent effects on renal fibroblast proliferation and function. Ther Drug Monit (2010) 0.80
Differential kidney proteome profiling in a murine model of renal fibrosis under treatment with mycophenolate mofetil. Pathobiology (2011) 0.80
Pure bipolar plasma vaporization of the prostate: the Zürich experience. J Endourol (2013) 0.77
Antifibrotic, nephroprotective effects of paricalcitol versus calcitriol on top of ACE-inhibitor therapy in the COL4A3 knockout mouse model for progressive renal fibrosis. Nephrol Dial Transplant (2013) 0.77
SOX-1 autoantibodies in patients with paraneoplastic neurological syndromes. Autoimmun Rev (2009) 0.77
Ablative efficiency of 532-nm laser vaporization compared to transurethral resection of the prostate: results from a prospective three-dimensional ultrasound volumetry study. World J Urol (2013) 0.77
Mycophenolic acid predose concentrations and renal function in a mouse model for progressive renal fibrosis. Ther Drug Monit (2010) 0.76