Prospective study on the potential of RAAS blockade to halt renal disease in Alport syndrome patients with heterozygous mutations
暂无分享,去创建一个
B. Tönshoff | B. Hoppe | L. Pape | G. Müller | M. Feldkötter | O. Gross | C. Lerch | S. Wygoda | B. Höcker | Manfred Weber | J. Sonntag | Jenny Frese | Johanna Stock | Johannes Kuenanz | Niklas Glonke | L. Pape
[1] T. Friede,et al. Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome , 2016, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[2] M. Thomassen,et al. Clinical utility gene card for: Alport syndrome – update 2014 , 2014, European Journal of Human Genetics.
[3] K. Voskarides,et al. Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing , 2014, PloS one.
[4] C. Deltas,et al. Alport syndrome from bench to bedside: the potential of current treatment beyond RAAS blockade and the horizon of future therapies. , 2014, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[5] A. Adeyemo,et al. Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis , 2014, Kidney international.
[6] O. Gross,et al. Challenges for academic investigator-initiated pediatric trials for rare diseases. , 2014, Clinical Therapeutics.
[7] J. Savige,et al. COL4A3/COL4A4 mutations and features in individuals with autosomal recessive Alport syndrome. , 2013, Journal of the American Society of Nephrology : JASN.
[8] S. Korbet,et al. The variable course of women with X-linked Alport Syndrome , 2013, Clinical kidney journal.
[9] D. Rubel,et al. Alport syndrome—insights from basic and clinical research , 2013, Nature Reviews Nephrology.
[10] Jie Ding,et al. Expert guidelines for the management of Alport syndrome and thin basement membrane nephropathy. , 2013, Journal of the American Society of Nephrology : JASN.
[11] Tim Friede,et al. Safety and Efficacy of the ACE-Inhibitor Ramipril in Alport Syndrome: The Double-Blind, Randomized, Placebo-Controlled, Multicenter Phase III EARLY PRO-TECT Alport Trial in Pediatric Patients , 2012, ISRN pediatrics.
[12] R. Torra,et al. Incidence of renal failure and nephroprotection by RAAS inhibition in heterozygous carriers of X-chromosomal and autosomal recessive Alport mutations. , 2012, Kidney international.
[13] Jie Ding,et al. Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative , 2012, Pediatric Nephrology.
[14] T. Friede,et al. Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy. , 2012, Kidney international.
[15] M. Rheault. Women and Alport syndrome , 2011, Pediatric Nephrology.
[16] M. Bekheirnia,et al. Genotype-phenotype correlation in X-linked Alport syndrome. , 2010, Journal of the American Society of Nephrology : JASN.
[17] J. Fries,et al. Living donor kidney transplantation from relatives with mild urinary abnormalities in Alport syndrome: long-term risk, benefit and outcome. , 2009, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[18] C. Kashtan. Alport syndrome and the X chromosome: implications of a diagnosis of Alport syndrome in females. , 2007, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[19] B. Beirowski,et al. Chronic renal failure and shortened lifespan in COL4A3+/- mice: an animal model for thin basement membrane nephropathy. , 2006, Journal of the American Society of Nephrology : JASN.
[20] M. Gregory. The clinical features of thin basement membrane nephropathy. , 2005, Seminars in nephrology.
[21] Douglas G Altman,et al. The logrank test , 2004, BMJ : British Medical Journal.
[22] H. Smeets,et al. 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. , 2003, Journal of the American Society of Nephrology : JASN.
[23] K. Tryggvason,et al. Alport's syndrome, Goodpasture's syndrome, and type IV collagen. , 2003, The New England journal of medicine.
[24] O. Gross,et al. Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome. , 2003, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[25] O. Gross,et al. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling. , 2002, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[26] G. Mollet,et al. Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome. , 2001, Journal of the American Society of Nephrology : JASN.
[27] H. Smeets,et al. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males. , 2000, Journal of the American Society of Nephrology : JASN.
[28] J. Savige,et al. Thin basement membrane nephropathy. , 2003, Kidney international.
[29] P. Frederik,et al. Thin-basement-membrane nephropathy in adults with persistent hematuria. , 1989, The New England journal of medicine.