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Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

The Journal of clinical investigation, 2012-11, Vol.122 (11), p.4257-4273

2012

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Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease

Journal of the American Society of Nephrology, 2007-05, Vol.18 (5), p.1374-1380

2007

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Total Kidney Volume in Autosomal Dominant Polycystic Kidney Disease: A Biomarker of Disease Progression and Therapeutic Efficacy

American journal of kidney diseases, 2015-10, Vol.66 (4), p.564-576

2015

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Randomized Clinical Trial of Long-Acting Somatostatin for Autosomal Dominant Polycystic Kidney and Liver Disease

Journal of the American Society of Nephrology, 2010-06, Vol.21 (6), p.1052-1061

2010

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Identification of Gene Mutations in Autosomal Dominant Polycystic Kidney Disease through Targeted Resequencing

Journal of the American Society of Nephrology, 2012-05, Vol.23 (5), p.915-933

2012

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Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy

Journal of molecular and cellular cardiology, 2013-05, Vol.58, p.199-208

2013

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Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis

Clinical journal of the American Society of Nephrology, 2011-09, Vol.6 (9), p.2289-2295

2011

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Extended Follow-Up of Unruptured Intracranial Aneurysms Detected by Presymptomatic Screening in Patients with Autosomal Dominant Polycystic Kidney Disease

Clinical journal of the American Society of Nephrology, 2011-06, Vol.6 (6), p.1274-1285

2011

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The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

Nature genetics, 2002-03, Vol.30 (3), p.259-269

2002

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Determinants of Renal Disease Variability in ADPKD

Advances in chronic kidney disease, 2010-03, Vol.17 (2), p.131-139

2010

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Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)

Medicine (Baltimore), 2006-01, Vol.85 (1), p.1-21

2006

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Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction

Journal of the American Society of Nephrology, 2006-04, Vol.17 (4), p.1015-1025

2006

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Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

Kidney international, 2008-12, Vol.74 (11), p.1468-1479

2008

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The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD)

Current hypertension reviews, 2013-02, Vol.9 (1), p.37

2013

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Association of mutation position in polycystic kidney disease 1 ( PKD1) gene and development of a vascular phenotype

The Lancet (British edition), 2003-06, Vol.361 (9376), p.2196-2201

2003

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A complete mutation screen of the ADPKD genes by DHPLC

Kidney international, 2002-05, Vol.61 (5), p.1588-1599

2002

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A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

Kidney international, 2003-08, Vol.64 (2), p.391-403

2003

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Management of Hyperphosphatemia in End-Stage Renal Disease: A New Paradigm

Journal of renal nutrition, 2021-01, Vol.31 (1), p.21-34

2021

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A telomerase immortalized human proximal tubule cell line with a truncation mutation (Q4004X) in polycystin-1

PloS one, 2013-01, Vol.8 (1), p.e55191-e55191

2013

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Progression of autosomal dominant kidney disease: measurement of the stage transitions of chronic kidney disease

Drugs in context, 2015-04, Vol.4, p.212275-212275

2015

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Investigation of Primary Cilia in the Pathogenesis of Biliary Atresia

Journal of pediatric gastroenterology and nutrition, 2011-04, Vol.52 (4), p.485-488

2011

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Mutation Analysis of the Entire PKD1 Gene: Genetic and Diagnostic Implications

American journal of human genetics, 2001-01, Vol.68 (1), p.46-63

2001

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FP124TIMING OF THE REDUCTION IN PTH FOLLOWING TREATMENT WITH ETELCALCETIDE: RESULTS FROM TWO PLACEBO-CONTROLLED STUDIES

Nephrology, dialysis, transplantation, 2019-06, Vol.34 (Supplement_1)

2019

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Predictors of autosomal dominant polycystic kidney disease progression

Journal of the American Society of Nephrology, 2014-11, Vol.25 (11), p.2399-2418

2014

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Results of a Double-Blind, Randomized, Placebo-Controlled Study of Nabiximols Oromucosal Spray as an Adjunctive Therapy in Advanced Cancer Patients with Chronic Uncontrolled Pain

Journal of pain and symptom management, 2018-02, Vol.55 (2), p.179-188.e1

2018

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Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease

Total Kidney Volume in Autosomal Dominant Polycystic Kidney Disease: A Biomarker of Disease Progression and Therapeutic Efficacy

Randomized Clinical Trial of Long-Acting Somatostatin for Autosomal Dominant Polycystic Kidney and Liver Disease

Identification of Gene Mutations in Autosomal Dominant Polycystic Kidney Disease through Targeted Resequencing

Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy

Primary Hyperoxaluria Type III Gene HOGA1 (Formerly DHDPSL) as a Possible Risk Factor for Idiopathic Calcium Oxalate Urolithiasis

Extended Follow-Up of Unruptured Intracranial Aneurysms Detected by Presymptomatic Screening in Patients with Autosomal Dominant Polycystic Kidney Disease

The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein

Determinants of Renal Disease Variability in ADPKD

Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD)

Loss of polycystin-1 in human cyst-lining epithelia leads to ciliary dysfunction

Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

The genetics of vascular complications in autosomal dominant polycystic kidney disease (ADPKD)

Association of mutation position in polycystic kidney disease 1 ( PKD1) gene and development of a vascular phenotype

A complete mutation screen of the ADPKD genes by DHPLC

A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees

Management of Hyperphosphatemia in End-Stage Renal Disease: A New Paradigm

A telomerase immortalized human proximal tubule cell line with a truncation mutation (Q4004X) in polycystin-1

Progression of autosomal dominant kidney disease: measurement of the stage transitions of chronic kidney disease

Investigation of Primary Cilia in the Pathogenesis of Biliary Atresia

Mutation Analysis of the Entire PKD1 Gene: Genetic and Diagnostic Implications

FP124TIMING OF THE REDUCTION IN PTH FOLLOWING TREATMENT WITH ETELCALCETIDE: RESULTS FROM TWO PLACEBO-CONTROLLED STUDIES

Predictors of autosomal dominant polycystic kidney disease progression

Results of a Double-Blind, Randomized, Placebo-Controlled Study of Nabiximols Oromucosal Spray as an Adjunctive Therapy in Advanced Cancer Patients with Chronic Uncontrolled Pain

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