The diversity of PKD1 alleles: implications for disease pathogenesis and genetic counseling-Reference-Cited by-同舟云学术

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The diversity of PKD1 alleles: implications for disease pathogenesis and genetic counseling

Published:2009-04 Issue:8 Volume:75 Page:765-767
ISSN:0085-2538
Container-title:Kidney International
language:en
Short-container-title:Kidney International

Author:

Sandford Richard N.

Publisher

Elsevier BV

Subject

Nephrology

Reference15 articles.

1. Approaches to testing new treatments in autosomal dominant polycystic kidney disease: insights from the CRISP and HALT-PKD studies;Chapman;Clin J Am Soc Nephrol,2008

2. Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease;Rossetti;J Am Soc Nephrol,2007

3. Role of primary cilia in the pathogenesis of polycystic kidney disease;Yoder;J Am Soc Nephrol,2007

4. Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease;Rossetti;J Am Soc Nephrol,2007

5. Linkage, clinical features, and prognosis of autosomal dominant polycystic kidney disease types 1 and 2;Torra;J Am Soc Nephrol,1996

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1. Recessive PKD1 Mutations Are Associated With Febrile Seizures and Epilepsy With Antecedent Febrile Seizures and the Genotype-Phenotype Correlation;Frontiers in Molecular Neuroscience;2022-05-10

2. PATHOGENESIS AND THERAPY IN POLYCYSTIC KIDNEY DISEASES;ACTA MEDICA MEDITERR;2022

3. Analysis of Nationwide Data to Determine the Incidence and Diagnosed Prevalence of Autosomal Dominant Polycystic Kidney Disease in the USA: 2013–2015;Kidney Diseases;2019

4. Ehlers-Danlos Syndrome Caused by BiallelicTNXBVariants in Patients with Congenital Adrenal Hyperplasia;Human Mutation;2016-07-08

5. An Unusual Presentation of Denys-Drash Syndrome Due to Bigenic Disease;Pediatrics;2014-01-01

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