Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants.
Krall P et al.
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
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data.
Saxena D et al.
Prenatal Diagnosis, 2023
Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease.
Ajiri R et al.
Kidney International Reports, 2022
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao S et al.
European Journal of Human Genetics : Ejhg, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 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
An Ashkenazi founder mutation in the PKHD1 gene.
Quint A et al.
European Journal of Medical Genetics, 2016
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
Courcet JB et al.
American Journal of Medical Genetics. Part A, 2015
Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease.
Thakur P et al.
Case Reports in Genetics, 2014
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
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
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Human Mutation, 2004
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