Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease.
暂无分享,去创建一个
Kaleab Z. Abebe | D. Landsittel | K. Bae | C. Moore | A. Chapman | M. Mrug | M. Irazabal | V. Torres | P. Harris | K. Hopp | R. Schrier | J. Grantham | W. Bennett | C. M. Heyer | R. Perrone | M. Flessner | A. Yu | W. Braun | T. Steinman | G. Brosnahan | J. L. Sundsbak | C. Moore
[1] Jeffrey M Slezak,et al. Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype , 2003, The Lancet.
[2] Douglas Landsittel,et al. Kidney volume and functional outcomes in autosomal dominant polycystic kidney disease. , 2012, Clinical journal of the American Society of Nephrology : CJASN.
[3] F. Cosio,et al. Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. , 2006, Journal of the American Society of Nephrology : JASN.
[4] C. Férec,et al. The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease. , 2016, Journal of the American Society of Nephrology : JASN.
[5] Gregory R Pond,et al. The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. , 2002, Journal of the American Society of Nephrology : JASN.
[6] J. Stockman,et al. A New Equation to Estimate Glomerular Filtration Rate , 2011 .
[7] R. Salomon,et al. Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease. , 2016, Journal of the American Society of Nephrology : JASN.
[8] P. Harris,et al. Molecular diagnostics for autosomal dominant polycystic kidney disease , 2010, Nature Reviews Nephrology.
[9] J. Hughes,et al. The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains , 1995, Nature Genetics.
[10] Ajay V. Srivastava,et al. Autosomal dominant polycystic kidney disease. , 2014, American family physician.
[11] E. Ars,et al. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. , 2010, Journal of the American Society of Nephrology : JASN.
[12] J. Miller,et al. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. , 2007, Journal of the American Society of Nephrology : JASN.
[13] Bradley J Erickson,et al. Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials. , 2015, Journal of the American Society of Nephrology : JASN.
[14] Vladimir G. Gainullin,et al. Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. , 2012, The Journal of clinical investigation.
[15] Ann M. Johnson,et al. Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. , 1992 .
[16] J. Grantham,et al. Why kidneys fail in autosomal dominant polycystic kidney disease , 2011, Nature Reviews Nephrology.
[17] Paul A Thompson,et al. Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohort. , 2003, Kidney international.
[18] J. Jonsson,et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. , 2011, Journal of the American Society of Nephrology : JASN.
[19] S. Somlo,et al. Altered trafficking and stability of polycystins underlie polycystic kidney disease. , 2014, The Journal of clinical investigation.
[20] C. Férec,et al. Autosomal dominant polycystic kidney disease: Comprehensive mutation analysis of PKD1 and PKD2 in 700 unrelated patients , 2012, Human mutation.
[21] R. Richards,et al. Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease , 1992, The Lancet.
[22] V. Torres,et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. , 2009, Kidney international.
[23] P. Harris,et al. Polycystin-1 maturation requires polycystin-2 in a dose-dependent manner. , 2015, The Journal of clinical investigation.
[24] Kaleab Z. Abebe,et al. Liver involvement in early autosomal-dominant polycystic kidney disease. , 2015, Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association.
[25] K. Bae,et al. Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome. , 2008, Kidney international.
[26] C. Férec,et al. Type of PKD1 mutation influences renal outcome in ADPKD. , 2013, Journal of the American Society of Nephrology : JASN.
[27] G. Brosnahan,et al. Volume progression in polycystic kidney disease. , 2006, The New England journal of medicine.
[28] J. García Rodríguez,et al. [Polycystic Kidney Disease]. , 2005, Actas urologicas espanolas.
[29] E. Coto,et al. Evidence of a third ADPKD locus is not supported by reanalysis of designated PKD3 families , 2013, Kidney international.
[30] E. Coto,et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2 , 1999, The Lancet.
[31] C. Schmid,et al. A new equation to estimate glomerular filtration rate. , 2009, Annals of internal medicine.
[32] A. Chapman,et al. Volume progression in autosomal dominant polycystic kidney disease: the major factor determining clinical outcomes. , 2005, Clinical journal of the American Society of Nephrology : CJASN.
[33] Ann M. Johnson,et al. Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease. , 2003, Journal of the American Society of Nephrology : JASN.
[34] J. Miller,et al. The HALT polycystic kidney disease trials: design and implementation. , 2010, Clinical journal of the American Society of Nephrology : CJASN.
[35] Kaleab Z. Abebe,et al. Blood pressure in early autosomal dominant polycystic kidney disease. , 2014, The New England journal of medicine.
[36] Kaleab Z. Abebe,et al. Angiotensin blockade in late autosomal dominant polycystic kidney disease. , 2014, The New England journal of medicine.