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The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

Journal of the American Society of Nephrology, 2002-10, Vol.13 (10), p.2508-2516

2002

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Autosomal recessive polycystic kidney disease: the clinical experience in North America

Pediatrics (Evanston), 2003-05, Vol.111 (5 Pt 1), p.1072-1080

2003

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A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis

Hepatology (Baltimore, Md.), 2011-06, Vol.53 (6), p.1959-1966

2011

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'I don't want to burden my family': handling communication challenges in geriatric oncology

Annals of oncology, 2013-10, Vol.24, p.vii30-vii35

2013

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Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

Journal of medical genetics, 2010-07, Vol.47 (7), p.445-452

2010

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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

American journal of human genetics, 2002-05, Vol.70 (5), p.1305-1317

2002

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Determinants of renal volume in autosomal-dominant polycystic kidney disease

Kidney international, 2008-01, Vol.73 (1), p.108-116

2008

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Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway

Human molecular genetics, 2007-08, Vol.16 (16), p.1940-1950

2007

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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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Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm

Kidney international, 2004-10, Vol.66 (4), p.1345-1355

2004

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Sonographic Assessment of the Severity and Progression of Autosomal Dominant Polycystic Kidney Disease: The Consortium of Renal Imaging Studies in Polycystic Kidney Disease (CRISP)

American journal of kidney diseases, 2005-12, Vol.46 (6), p.1058-1064

2005

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Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

Journal of medical genetics, 2005-04, Vol.42 (4), p.336-349

2005

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Volume Progression in Polycystic Kidney Disease

The New England journal of medicine, 2006-05, Vol.354 (20), p.2122-2130

2006

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Association Between Self-Reported Sleep Disturbance and Other Symptoms in Patients with Advanced Cancer

Journal of pain and symptom management, 2011-05, Vol.41 (5), p.819-827

2011

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Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations

Journal of the American Society of Nephrology, 2003-08, Vol.14 (8), p.2004-2014

2003

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Weight loss in overweight patients maintained on atypical antipsychotic agents

International Journal of Obesity, 2006-06, Vol.30 (6), p.1011-1016

2006

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Autosomal recessive polycystic kidney disease: outcomes from a single-center experience

Pediatric nephrology (Berlin, West), 2003-02, Vol.18 (2), p.119-126

2003

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Bartter syndrome: unraveling the pathophysiologic enigma

The American journal of medicine, 1998-08, Vol.105 (2), p.151-161

Guay-Woodford, Lisa M

1998

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Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

Kidney international, 1998-09, Vol.54 (3), p.720-730

1998

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Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease

Journal of the American Society of Nephrology, 2000-04, Vol.11 (4), p.760-763

2000

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Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

Journal of the American Society of Nephrology, 2007-07, Vol.18 (7), p.2143-2160

2007

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Development and evaluation of a liquid chromatography–mass spectrometry assay and its application for the assessment of renal function

Journal of Chromatography A, 2008-05, Vol.1189 (1), p.410-416

2008

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Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulated

Human molecular genetics, 2000-03, Vol.9 (5), p.769-778

2000

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Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease

Journal of the American Society of Nephrology, 2006-11, Vol.17 (11), p.3013-3019

2006

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Magnetic resonance measurements of renal blood flow as a marker of disease severity in autosomal-dominant polycystic kidney disease

Kidney international, 2003-12, Vol.64 (6), p.2214-2221

2003

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The polycystic kidney disease proteins, polycystin-1, polycystin-2, polaris, and cystin, are co-localized in renal cilia

Autosomal recessive polycystic kidney disease: the clinical experience in North America

A classification of ductal plate malformations based on distinct pathogenic mechanisms of biliary dysmorphogenesis

'I don't want to burden my family': handling communication challenges in geriatric oncology

Mutational analysis of the PLCE1 gene in steroid resistant nephrotic syndrome

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

Determinants of renal volume in autosomal-dominant polycystic kidney disease

Genetic interaction studies link autosomal dominant and recessive polycystic kidney disease in a common pathway

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

Polyductin, the PKHD1 gene product, comprises isoforms expressed in plasma membrane, primary cilium, and cytoplasm

Sonographic Assessment of the Severity and Progression of Autosomal Dominant Polycystic Kidney Disease: The Consortium of Renal Imaging Studies in Polycystic Kidney Disease (CRISP)

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

Volume Progression in Polycystic Kidney Disease

Association Between Self-Reported Sleep Disturbance and Other Symptoms in Patients with Advanced Cancer

Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations

Weight loss in overweight patients maintained on atypical antipsychotic agents

Autosomal recessive polycystic kidney disease: outcomes from a single-center experience

Bartter syndrome: unraveling the pathophysiologic enigma

Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain

Proximal tubular cysts in fetal human autosomal recessive polycystic kidney disease

Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease

Development and evaluation of a liquid chromatography–mass spectrometry assay and its application for the assessment of renal function

Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulated

Cyst number but not the rate of cystic growth is associated with the mutated gene in autosomal dominant polycystic kidney disease

Magnetic resonance measurements of renal blood flow as a marker of disease severity in autosomal-dominant polycystic kidney disease

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