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
Non-truncating BMPR1A variants associated with familial colorectal cancer and adenomatous polyps.
Nieminen TT et al.
Bmc Cancer, 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
The dominant findings of a recessive man: from Mendel's kid pea to kidney.
Tory K
Pediatric Nephrology (berlin, Germany), 2024
Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.
Henein M et al.
Nephron, 2024
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease.
Harafuji N et al.
Frontiers in Cell and Developmental Biology, 2023
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.
Ajiri R et al.
Kidney International Reports, 2022
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á et al.
Human Mutation, 2021
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Marinakis NM et al.
American Journal of Medical Genetics. Part A, 2021
Short article: Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family.
Yang N et al.
European Journal of Gastroenterology & Hepatology, 2019
Interfering effect of maternal cell contamination on invasive prenatal molecular genetic testing.
Koczok K et al.
Prenatal Diagnosis, 2018
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
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
Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts.
Sharp AM et al.
Journal of Medical Genetics, 2005
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
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Human Mutation, 2004
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
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
Ward CJ et al.
Nature Genetics, 2002