Associated Papers
Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.
Lapunzina-Soler P et al.
Genes, 2026
Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.
Tapper EE et al.
Kidney Medicine, 2026
Atypical Liver Ultrasound Image in a Boy with Autosomal Recessive Polycystic Kidney Disease (ARPKD) and New PKD1 Variant-A Case Report.
Turczyn A et al.
Genes, 2025
Spectrum of congenital anomalies of the kidney and urinary tract (CAKUT) including renal parenchymal malformations during fetal life and the implementation of prenatal exome sequencing (WES).
Koenigbauer JT et al.
Archives of Gynecology and Obstetrics, 2024
Distribution and classifications of PKHD1 gene variants in a Turkish population using the next generation sequencing method.
Gezgin Y et al.
Turkish Journal of Medical Sciences, 2024
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A et al.
Nature Communications, 2023
Clinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
Ishiko S et al.
Clinical and Experimental Nephrology, 2022
Whole-Exome Sequencing Application for Genetic Diagnosis of Kidney Diseases: A Study from Southwest of Iran.
Zamani M et al.
Kidney360, 2021
Possible PKHD1 Hot-spot Mutations Related to Early Kidney Function Failure or Hepatofibrosis in Chinese Children with ARPKD: A Retrospective Single Center Cohort Study and Literature Review.
Qiu LR et al.
Current Medical Science, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Short article: Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family.
Yang N et al.
European Journal of Gastroenterology & Hepatology, 2019
Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis.
Melchionda S et al.
Journal of Human Genetics, 2016
Liver disease in autosomal recessive polycystic kidney disease: clinical characteristics and management in relation to renal failure.
Luoto TT et al.
Journal of Pediatric Gastroenterology and Nutrition, 2014
Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease.
Zingg-Schenk A et al.
Pediatric Nephrology (berlin, Germany), 2012
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M et al.
Molecular Genetics and Metabolism, 2010
Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
Adeva M et al.
Medicine, 2006
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Kidney International, 2005
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Human Mutation, 2005
New options for prenatal diagnosis in autosomal recessive polycystic kidney disease by mutation analysis of the PKHD1 gene.
Zerres K et al.
Clinical Genetics, 2004
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Human Mutation, 2004
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Human Mutation, 2004
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
Rossetti S et al.
Kidney International, 2003
Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations.
Furu L et al.
Journal of the American Society of Nephrology : Jasn, 2003
Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1).
Bergmann C et al.
Journal of the American Society of Nephrology : Jasn, 2003
Autosomal recessive polycystic kidney disease (ARPKD).
Zerres K et al.
Journal of Nephrology, 0