Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
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
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.
Obeidova L et al.
Plos One, 2020
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
31832098 (PubMed )
Supplement: 13039_2019_459_MOESM4_ESM.xlsx › Sheet1
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Szabó T et al.
Pediatric Nephrology (berlin, Germany), 2018
Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.
Obeidova L et al.
Bmc Medical Genetics, 2015
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
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees.
Rossetti S et al.
Kidney International, 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
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