Published in Pediatr Nephrol on October 29, 2010
Pediatric emergency medicine point-of-care ultrasound: summary of the evidence. Crit Ultrasound J (2016) 1.43
Sirtuin 1 inhibition delays cyst formation in autosomal-dominant polycystic kidney disease. J Clin Invest (2013) 1.14
Looking at the (w)hole: magnet resonance imaging in polycystic kidney disease. Pediatr Nephrol (2012) 0.97
Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes. Pediatr Nephrol (2013) 0.95
Autosomal recessive polycystic kidney disease: antenatal diagnosis and histopathological correlation. J Clin Imaging Sci (2013) 0.90
Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease. Pediatr Nephrol (2013) 0.86
Pathophysiology of childhood polycystic kidney diseases: new insights into disease-specific therapy. Pediatr Res (2013) 0.84
Tubular obstruction leads to progressive proximal tubular injury and atubular glomeruli in polycystic kidney disease. Am J Pathol (2014) 0.80
Novel inhibitors of nuclear transport cause cell cycle arrest and decrease cyst growth in ADPKD associated with decreased CDK4 levels. Am J Physiol Renal Physiol (2014) 0.79
Global Gene Expression Profiling in PPAR-γ Agonist-Treated Kidneys in an Orthologous Rat Model of Human Autosomal Recessive Polycystic Kidney Disease. PPAR Res (2012) 0.77
New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications. Pediatr Transplant (2013) 0.77
Telmisartan ameliorates fibrocystic liver disease in an orthologous rat model of human autosomal recessive polycystic kidney disease. PLoS One (2013) 0.77
Early renal abnormalities in children with postnatally diagnosed autosomal dominant polycystic kidney disease. Pediatr Nephrol (2012) 0.76
Emerging Therapies for Childhood Polycystic Kidney Disease. Front Pediatr (2017) 0.75
Hepatorenal fibrocystic diseases in children. Pediatr Nephrol (2015) 0.75
Transplantation in autosomal recessive polycystic kidney disease: liver and/or kidney? Pediatr Nephrol (2014) 0.75
Disorders of fatty acid oxidation and autosomal recessive polycystic kidney disease-different clinical entities and comparable perinatal renal abnormalities. Pediatr Nephrol (2017) 0.75
Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome. Pediatr Radiol (2014) 0.75
When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol (2007) 8.28
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature (1985) 7.34
Volume progression in polycystic kidney disease. N Engl J Med (2006) 7.16
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science (1996) 6.56
Autosomal dominant polycystic kidney disease. N Engl J Med (1993) 5.64
Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohort. Kidney Int (2003) 4.84
Polycystic kidney disease. Annu Rev Med (2009) 4.78
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet (2002) 4.54
Polycystin-2 is an intracellular calcium release channel. Nat Cell Biol (2002) 4.37
Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol (2008) 4.07
Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet (1994) 3.73
Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int (2009) 3.66
Polycystic kidney disease: the complete structure of the PKD1 gene and its protein. The International Polycystic Kidney Disease Consortium. Cell (1995) 3.34
Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet (1999) 3.32
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol (2007) 3.26
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet (2002) 3.21
Peroxisome biogenesis disorders. Biochim Biophys Acta (2006) 3.06
Homo- and heterodimeric interactions between the gene products of PKD1 and PKD2. Proc Natl Acad Sci U S A (1997) 3.06
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int (2009) 2.99
Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics (2003) 2.89
Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. Kidney Int (1992) 2.89
Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol (2008) 2.66
cAMP stimulates the in vitro proliferation of renal cyst epithelial cells by activating the extracellular signal-regulated kinase pathway. Kidney Int (2000) 2.65
The tuberous sclerosis complex. Ann N Y Acad Sci (2010) 2.51
Lowering of Pkd1 expression is sufficient to cause polycystic kidney disease. Hum Mol Genet (2004) 2.47
Sirolimus therapy to halt the progression of ADPKD. J Am Soc Nephrol (2010) 2.42
Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort. Clin J Am Soc Nephrol (2005) 2.37
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore) (2006) 2.34
Cyclic AMP activates B-Raf and ERK in cyst epithelial cells from autosomal-dominant polycystic kidneys. Kidney Int (2003) 2.32
Polycystic disease of kidney and liver presenting in childhood. J Med Genet (1971) 2.27
Renal cystic diseases: a review. Adv Anat Pathol (2006) 2.27
Calcium restriction allows cAMP activation of the B-Raf/ERK pathway, switching cells to a cAMP-dependent growth-stimulated phenotype. J Biol Chem (2004) 2.26
The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med (1990) 2.26
Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease. J Am Soc Nephrol (2006) 2.21
Genetic heterogeneity of polycystic kidney disease in Europe. Contrib Nephrol (1992) 2.14
Molecular pathogenesis of ADPKD: the polycystin complex gets complex. Kidney Int (2005) 2.13
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nat Genet (1993) 2.01
Polycystins and primary cilia: primers for cell cycle progression. Annu Rev Physiol (2009) 1.99
Effect of antihypertensive therapy on renal function and urinary albumin excretion in hypertensive patients with autosomal dominant polycystic kidney disease. Am J Kidney Dis (2000) 1.86
Evidence for a third genetic locus for autosomal dominant polycystic kidney disease. Genomics (1995) 1.86
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet (1998) 1.85
Advances in the pathogenesis and treatment of polycystic kidney disease. Curr Opin Nephrol Hypertens (2009) 1.73
Rapamycin ameliorates PKD resulting from conditional inactivation of Pkd1. J Am Soc Nephrol (2010) 1.70
Normal values for renal length and volume as measured by magnetic resonance imaging. Clin J Am Soc Nephrol (2006) 1.67
Clinical and molecular features of Joubert syndrome and related disorders. Am J Med Genet C Semin Med Genet (2009) 1.66
A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int (2002) 1.66
Autosomal dominant polycystic kidney disease: molecular genetics and pathophysiology. J Lab Clin Med (2003) 1.56
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney Int (2005) 1.55
Liver and kidney disease in ciliopathies. Am J Med Genet C Semin Med Genet (2009) 1.53
Autosomal dominant polycystic kidney disease--more than a renal disease. Am J Kidney Dis (1990) 1.53
Magnetic resonance measurements of renal blood flow and disease progression in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol (2006) 1.53
Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie. Acta Paediatr (1996) 1.49
Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease. Am J Hum Genet (2001) 1.47
Determinants of renal volume in autosomal-dominant polycystic kidney disease. Kidney Int (2007) 1.44
Nephronophthisis. Pediatr Nephrol (2008) 1.40
Pkd2 haploinsufficiency alters intracellular calcium regulation in vascular smooth muscle cells. Hum Mol Genet (2003) 1.39
Left ventricular hypertrophy in autosomal dominant polycystic kidney disease. J Am Soc Nephrol (1997) 1.37
Differential diagnosis of fetal hyperechogenic cystic kidneys unrelated to renal tract anomalies: A multicenter study. Ultrasound Obstet Gynecol (2006) 1.37
Glomerulocystic kidney disease--nosological considerations. Pediatr Nephrol (1993) 1.36
Approaches to testing new treatments in autosomal dominant polycystic kidney disease: insights from the CRISP and HALT-PKD studies. Clin J Am Soc Nephrol (2008) 1.33
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. J Med Genet (2005) 1.32
Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors. Pediatr Nephrol (1997) 1.30
A hypomorphic mutation in the mouse laminin alpha5 gene causes polycystic kidney disease. J Am Soc Nephrol (2006) 1.29
Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat Rev Nephrol (2010) 1.27
High-resolution renal sonography in children with autosomal recessive polycystic kidney disease. AJR Am J Roentgenol (2005) 1.27
TRPP2 and autosomal dominant polycystic kidney disease. Biochim Biophys Acta (2007) 1.27
The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling. Am J Hum Genet (1995) 1.27
Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study. Ultrasound Obstet Gynecol (2004) 1.25
Family history of renal disease severity predicts the mutated gene in ADPKD. J Am Soc Nephrol (2009) 1.23
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. Kidney Int (2003) 1.19
Ultrasound versus computerized tomography for evaluating urolithiasis. J Urol (2009) 1.18
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. J Med Genet (2003) 1.17
PATHOGENESIS OF POLYCYSTIC KIDNEYS. TYPE 1 DUE TO HYPERPLASIA OF INTERSTITIAL PORTIONS OF COLLECTING TUBULES. Arch Pathol (1964) 1.17
Ambulatory blood pressure correlates with renal volume and number of renal cysts in children with autosomal dominant polycystic kidney disease. Blood Press Monit (2003) 1.16
Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family. Hum Genet (1995) 1.15
Glomerulocystic kidney: one hundred-year perspective. Arch Pathol Lab Med (2010) 1.14
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF). Pediatr Radiol (2008) 1.14
Mutation analysis of the entire replicated portion of PKD1 using genomic DNA samples. J Am Soc Nephrol (2001) 1.12
Determinants of renal disease variability in ADPKD. Adv Chronic Kidney Dis (2010) 1.11
Hepatic cysts in autosomal dominant polycystic kidney disease. Mayo Clin Proc (1990) 1.10
Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease. J Med Genet (1998) 1.10
Role of vasopressin antagonists. Clin J Am Soc Nephrol (2008) 1.08
Characteristics of hypertension in young adults with autosomal dominant polycystic kidney disease compared with the general U.S. population. Am J Hypertens (2004) 1.07
Autosomal dominant polycystic kidney disease in childhood: a longitudinal study. Kidney Int (1987) 1.05
Polycystic kidney disease in the first year of life. J Pediatr (1987) 1.04
Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease. Pediatr Radiol (2008) 1.04
Polycystic kidney diseases in childhood. J Pediatr (1989) 1.03
Autosomal dominant polycystic kidney disease. Nefrologia (2003) 1.02
Sirolimus attenuates disease progression in an orthologous mouse model of human autosomal dominant polycystic kidney disease. Kidney Int (2010) 1.02
Renal asymmetry in children with autosomal dominant polycystic kidney disease. Am J Kidney Dis (1999) 1.01
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. Am J Kidney Dis (2005) 1.01
Diagnosis and screening of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis (2010) 0.99
Imaging findings in congenital hepatic fibrosis. Eur J Radiol (2006) 0.99
Molecular basis of autosomal dominant polycystic kidney disease. Semin Nephrol (1999) 0.99
Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease. Ultrasound Med Biol (1990) 0.98
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat (2005) 0.98
Pathogenesis of hypertension in autosomal dominant polycystic kidney disease. Semin Nephrol (1991) 0.97
A family with a milder form of adult dominant polycystic kidney disease not linked to the PKD1 (16p) or PKD2 (4q) genes. J Med Genet (1997) 0.97
An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PKD2 gene. Am J Kidney Dis (1996) 0.96
Hereditary polycystic kidney diseases in children: changing sonographic patterns through childhood. Pediatr Radiol (2002) 0.95
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet (2002) 3.21
EGF-related growth factors in the pathogenesis of murine ARPKD. Kidney Int (2004) 1.81
Src inhibition ameliorates polycystic kidney disease. J Am Soc Nephrol (2008) 1.43
Polycystin-1 distribution is modulated by polycystin-2 expression in mammalian cells. J Biol Chem (2003) 1.38
Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD). Cell Tissue Res (2006) 1.36
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr (2006) 1.26
EGF receptor tyrosine kinase inhibition attenuates the development of PKD in Han:SPRD rats. Kidney Int (2003) 1.22
Combination treatment of PKD utilizing dual inhibition of EGF-receptor activity and ligand bioavailability. Kidney Int (2003) 1.15
Sirtuin 1 inhibition delays cyst formation in autosomal-dominant polycystic kidney disease. J Clin Invest (2013) 1.14
20-HETE mediates proliferation of renal epithelial cells in polycystic kidney disease. J Am Soc Nephrol (2008) 1.08
20-HETE activates the Raf/MEK/ERK pathway in renal epithelial cells through an EGFR- and c-Src-dependent mechanism. Am J Physiol Renal Physiol (2009) 1.05
Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease. Am J Kidney Dis (2005) 1.01
Loss of activator of G-protein signaling 3 impairs renal tubular regeneration following acute kidney injury in rodents. FASEB J (2011) 1.00
Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats. Kidney Int (2004) 0.92
Smac-mimetic-induced epithelial cell death reduces the growth of renal cysts. J Am Soc Nephrol (2013) 0.92
Survival of childhood polycystic kidney disease following renal transplantation: the impact of advanced hepatobiliary disease. Pediatr Transplant (2003) 0.91
Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification. J Assist Reprod Genet (2010) 0.90
G-protein signaling modulator 1 deficiency accelerates cystic disease in an orthologous mouse model of autosomal dominant polycystic kidney disease. Proc Natl Acad Sci U S A (2012) 0.89
HDAC6 regulates epidermal growth factor receptor (EGFR) endocytic trafficking and degradation in renal epithelial cells. PLoS One (2012) 0.87
Chronic blockade of 20-HETE synthesis reduces polycystic kidney disease in an orthologous rat model of ARPKD. Am J Physiol Renal Physiol (2009) 0.86
Refinement of the autosomal recessive polycystic kidney disease (PKHD1) interval and exclusion of an EF hand-containing gene as a PKHD1 candidate gene. Am J Med Genet (2002) 0.84
Role of genetic modifiers in an orthologous rat model of ARPKD. Physiol Genomics (2012) 0.83
Critical choices in mentoring the next generation of academic pediatricians: nine circles of hell or salvation? J Pediatr (2003) 0.81
Transport, cilia, and PKD: must we in (cyst) on interrelationships? Focus on "Increased Na+/H+ exchanger activity on the apical surface of a cilium-deficient cortical collecting duct principal cell model of polycystic kidney disease". Am J Physiol Cell Physiol (2012) 0.77
New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications. Pediatr Transplant (2013) 0.77
Complications of peritoneal dialysis in children with Eagle-Barrett syndrome. Pediatr Nephrol (2002) 0.76
Effect of the peritoneal dialysis prescription on pentosidine in children. Pediatr Nephrol (2003) 0.76