Associated Papers
Diagnostic Yield and Clinical Impact of a Small Genetic Panel for Kidney Disease: A Multicenter, Retrospective European Study.
Giovanella S et al.
Clinical Genetics, 2026
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.
Watson D et al.
American Journal of Medical Genetics. Part A, 2025
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 2024
Phenotypic Discordance among Siblings with Autosomal Recessive Polycystic Kidney Disease: Case Report and Review of the Literature.
Henein M et al.
Nephron, 2024
Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.
Neřoldová M et al.
Plos One, 2023
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.
Obeidova L et al.
Plos One, 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
Fetal exome sequencing: yield and limitations in a tertiary referral center.
Daum H et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2019
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Szabó T et al.
Pediatric Nephrology (berlin, Germany), 2018
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
A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients.
Tavira B et al.
Gene, 2015
Cost-effective PKHD1 genetic testing for autosomal recessive polycystic kidney disease.
Krall P et al.
Pediatric Nephrology (berlin, Germany), 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
Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.
Denamur E et al.
Kidney International, 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 families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
Bergmann C et al.
Human Mutation, 2004
Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia.
Ward CJ et al.
Human Molecular Genetics, 2003
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
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
Ward CJ et al.
Nature Genetics, 2002
Presence of compound heterozygous mutations in the PHKD1 gene in an asymptomatic patient.
Luis-Yanes MI et al.
Nefrologia, 0