Published in Kidney Int on September 24, 2008
Polycystic kidney disease. Annu Rev Med (2009) 4.78
Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int (2009) 3.66
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int (2009) 2.99
Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity. J Clin Invest (2012) 1.74
The HALT polycystic kidney disease trials: design and implementation. Clin J Am Soc Nephrol (2010) 1.59
Autosomal-dominant polycystic kidney disease (ADPKD): executive summary from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference. Kidney Int (2015) 1.50
Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat Rev Nephrol (2010) 1.27
Genetic mechanisms and signaling pathways in autosomal dominant polycystic kidney disease. J Clin Invest (2014) 1.24
Determinants of renal disease variability in ADPKD. Adv Chronic Kidney Dis (2010) 1.11
Mutations in GANAB, Encoding the Glucosidase IIα Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet (2016) 1.03
Polycystic kidney disease: pathogenesis and potential therapies. Biochim Biophys Acta (2010) 1.02
Predicted Mutation Strength of Nontruncating PKD1 Mutations Aids Genotype-Phenotype Correlations in Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol (2016) 1.02
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families. Kidney Int (2013) 1.01
Diagnosis and screening of autosomal dominant polycystic kidney disease. Adv Chronic Kidney Dis (2010) 0.99
Imaging-based diagnosis of autosomal dominant polycystic kidney disease. J Am Soc Nephrol (2014) 0.97
The Future of Polycystic Kidney Disease Research--As Seen By the 12 Kaplan Awardees. J Am Soc Nephrol (2015) 0.93
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol (2015) 0.90
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing. J Mol Diagn (2013) 0.90
Design and generation of MLPA probe sets for combined copy number and small-mutation analysis of human genes: EGFR as an example. ScientificWorldJournal (2010) 0.89
Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease. BMC Med Genet (2011) 0.87
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease. PLoS One (2015) 0.86
Improving the clinical evidence of bone graft substitute technology in lumbar spine surgery. Global Spine J (2012) 0.86
Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele. BMC Nephrol (2013) 0.86
High Resolution Melt analysis for mutation screening in PKD1 and PKD2. BMC Nephrol (2011) 0.84
Novel mutations of PKD genes in the Czech population with autosomal dominant polycystic kidney disease. BMC Med Genet (2014) 0.81
Clinical and public health implications of emerging genetic technologies. Semin Nephrol (2010) 0.80
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutated. BMC Med Genet (2015) 0.77
A New PKD-1 Mutation Discovered in a Black African Woman With Autosomal Polycystic Kidney Disease. Nephrourol Mon (2013) 0.77
The importance of quantifying genetic heterogeneity in ADPKD. Kidney Int (2014) 0.77
Similar renal outcomes in children with ADPKD diagnosed by screening or presenting with symptoms. Pediatr Nephrol (2010) 0.76
Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease. Sci Rep (2015) 0.76
Treatment of renal angiomyolipoma in tuberous sclerosis complex (TSC) patients. Pediatr Nephrol (2016) 0.76
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Sci Rep (2016) 0.75
Polycystic Kidney Disease without an Apparent Family History. J Am Soc Nephrol (2017) 0.75
Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res (2002) 16.02
Autosomal dominant polycystic kidney disease. Lancet (2007) 8.55
Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell (1993) 7.59
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
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet (1995) 4.99
ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med (2004) 4.64
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype--phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex. Eur J Hum Genet (2005) 3.43
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease. J Am Soc Nephrol (2007) 3.26
Large genomic deletions and duplications in the BRCA1 gene identified by a novel quantitative method. Cancer Res (2003) 3.02
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease--a contiguous gene syndrome. Nat Genet (1994) 2.35
Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet (1997) 2.06
Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. Genomics (1999) 1.99
Identification of 54 large deletions/duplications in TSC1 and TSC2 using MLPA, and genotype-phenotype correlations. Hum Genet (2007) 1.94
A complete mutation screen of the ADPKD genes by DHPLC. Kidney Int (2002) 1.66
Somatic mutation in individual liver cysts supports a two-hit model of cystogenesis in autosomal dominant polycystic kidney disease. Mol Cell (1998) 1.61
Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease. J Am Soc Nephrol (2005) 1.32
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Am J Hum Genet (1997) 1.21
Mosaicism in autosomal dominant polycystic kidney disease revealed by genetic testing to enable living related renal transplantation. Am J Transplant (2007) 1.09
A large TSC2 and PKD1 gene deletion is associated with renal and extrarenal signs of autosomal dominant polycystic kidney disease. Nephrol Dial Transplant (1997) 1.03
Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: absence of hot spots. Genomics (2007) 1.02
A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2. Am J Hum Genet (1999) 0.99
Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease. J Med Genet (2003) 0.95
Large deletions in the polycystic kidney disease 1 (PKD1) gene. Hum Mutat (2004) 0.93
Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant. Pediatr Nephrol (2004) 0.89
Gross genomic rearrangement involving the TSC2-PKD1 contiguous deletion syndrome: characterization of the deletion event by quantitative polymerase chain reaction deletion assay. Am J Kidney Dis (2007) 0.89
Facilitated diagnosis of the contiguous gene syndrome: tuberous sclerosis and polycystic kidneys by means of haplotype studies. Am J Kidney Dis (1998) 0.86
Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype. Eur J Med Genet (2005) 0.84
Tuberous sclerosis complex and polycystic kidney disease together: an exception to the contiguous gene syndrome. Genet Med (2006) 0.82
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome. J Med Genet (2002) 0.82
Neonatal presentation of autosomal dominant polycystic kidney disease with a maternal history of tuberous sclerosis. Nephrol Dial Transplant (1997) 0.79
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A (2009) 15.09
Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med (2012) 9.88
Autosomal dominant polycystic kidney disease. Lancet (2007) 8.55
Volume progression in polycystic kidney disease. N Engl J Med (2006) 7.16
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. Nat Genet (2002) 7.00
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Cell (2004) 6.10
Progress and prospects in rat genetics: a community view. Nat Genet (2008) 6.01
The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia. J Am Soc Nephrol (2002) 5.58
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15
Blood pressure in early autosomal dominant polycystic kidney disease. N Engl J Med (2014) 5.01
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
Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med (2014) 4.70
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet (2002) 4.54
The etiology and incidence of anaphylaxis in Rochester, Minnesota: a report from the Rochester Epidemiology Project. J Allergy Clin Immunol (2008) 4.10
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet (2010) 3.99
Inhibition of renal cystic disease development and progression by a vasopressin V2 receptor antagonist. Nat Med (2003) 3.78
Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int (2009) 3.66
Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas. Cancer Res (2008) 3.49
Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease. J Am Soc Nephrol (2010) 3.47
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
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Nat Genet (2006) 3.19
Two randomized trials of canakinumab in systemic juvenile idiopathic arthritis. N Engl J Med (2012) 3.14
Effective treatment of an orthologous model of autosomal dominant polycystic kidney disease. Nat Med (2004) 3.09
Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) (2005) 3.01
Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int (2009) 2.99
Mechanisms of Disease: autosomal dominant and recessive polycystic kidney diseases. Nat Clin Pract Nephrol (2006) 2.95
Effectiveness of vasopressin V2 receptor antagonists OPC-31260 and OPC-41061 on polycystic kidney disease development in the PCK rat. J Am Soc Nephrol (2005) 2.92
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut (2013) 2.86
Genomic association analysis identifies multiple loci influencing antihypertensive response to an angiotensin II receptor blocker. Hypertension (2012) 2.86
Kidney volume and functional outcomes in autosomal dominant polycystic kidney disease. Clin J Am Soc Nephrol (2012) 2.78
Vasopressin directly regulates cyst growth in polycystic kidney disease. J Am Soc Nephrol (2007) 2.71
Sirolimus therapy in tuberous sclerosis or sporadic lymphangioleiomyomatosis. N Engl J Med (2008) 2.70
Papillary thyroid carcinoma managed at the Mayo Clinic during six decades (1940-1999): temporal trends in initial therapy and long-term outcome in 2444 consecutively treated patients. World J Surg (2002) 2.68
Octreotide inhibits hepatic cystogenesis in a rodent model of polycystic liver disease by reducing cholangiocyte adenosine 3',5'-cyclic monophosphate. Gastroenterology (2006) 2.68
Volume progression in autosomal dominant polycystic kidney disease: the major factor determining clinical outcomes. Clin J Am Soc Nephrol (2005) 2.66
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
The impact of positive surgical margins on mortality following radical prostatectomy during the prostate specific antigen era. J Urol (2010) 2.60
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Long-term survival after radical prostatectomy versus external-beam radiotherapy for patients with high-risk prostate cancer. Cancer (2011) 2.58
Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum (2007) 2.56
Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia. Hum Mol Genet (2003) 2.55
Cyclic AMP promotes growth and secretion in human polycystic kidney epithelial cells. Kidney Int (2004) 2.55
The Pediatric Rheumatology International Trials Organization criteria for the evaluation of response to therapy in juvenile systemic lupus erythematosus: prospective validation of the disease activity core set. Arthritis Rheum (2005) 2.55
Diet, but not oral probiotics, effectively reduces urinary oxalate excretion and calcium oxalate supersaturation. Kidney Int (2010) 2.51
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations. Hum Mol Genet (2002) 2.48
Expanded extracolonic tumor spectrum in MUTYH-associated polyposis. Gastroenterology (2009) 2.42
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
Evaluation of urine biomarkers of kidney injury in polycystic kidney disease. Kidney Int (2012) 2.39
Radiation therapy after radical prostatectomy: impact on metastasis and survival. J Urol (2009) 2.37
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
Long-term risk of clinical progression after biochemical recurrence following radical prostatectomy: the impact of time from surgery to recurrence. Eur Urol (2011) 2.33