Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease
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[1] P. Choyke,et al. Congenital Hepatic Fibrosis and Portal Hypertension in Autosomal Dominant Polycystic Kidney Disease , 2012, Journal of pediatric gastroenterology and nutrition.
[2] 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.
[3] E. Avner,et al. Diagnosis and management of childhood polycystic kidney disease , 2011, Pediatric Nephrology.
[4] M. Caplan,et al. The cell biology of polycystic kidney disease , 2010, The Journal of cell biology.
[5] E. Ars,et al. Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD. , 2010, Journal of the American Society of Nephrology : JASN.
[6] C. Antignac,et al. Renin-angiotensin system in kidney development: renal tubular dysgenesis. , 2010, Kidney international.
[7] P. Harris,et al. Determinants of renal disease variability in ADPKD. , 2010, Advances in chronic kidney disease.
[8] M. Breuning,et al. Kidney-specific inactivation of the Pkd1 gene induces rapid cyst formation in developing kidneys and a slow onset of disease in adult mice. , 2007, Human molecular genetics.
[9] F. Schneider,et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). , 2005, Kidney international.
[10] Martijn H Breuning,et al. Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. , 2004, Human molecular genetics.
[11] G. Germino,et al. Expression of PKD1 and PKD2 transcripts and proteins in human embryo and during normal kidney development. , 2002, The American journal of pathology.
[12] L. Guay-Woodford,et al. Diffuse renal cystic disease in children: morphologic and genetic correlations , 1998, Pediatric Nephrology.
[13] E. Henske,et al. Loss of the polycystic kidney disease (PKD1) region of chromosome 16p13 in renal cyst cells supports a loss-of-function model for cyst pathogenesis. , 1997, The Journal of clinical investigation.
[14] G. Germino,et al. The Molecular Basis of Focal Cyst Formation in Human Autosomal Dominant Polycystic Kidney Disease Type I , 1996, Cell.
[15] E. Avner,et al. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. , 1995, American journal of human genetics.