Associated Papers
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
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á et al.
Human Mutation, 2021
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
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
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
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.
Onuchic LF et al.
American Journal of Human Genetics, 2002
Autosomal recessive polycystic kidney disease (ARPKD).
Zerres K et al.
Journal of Nephrology, 0
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