Associated Papers
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
Targeted Next Generation Sequencing Revealed Novel Variants in the PKD1 and PKD2 Genes of Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.
Hosseinpour M et al.
Archives of Iranian Medicine, 2022
37543885 (PubMed )
Supplement: aim-25-600-s003.xlsx › PKD1_2__PKHD1
Exome sequencing and analysis of 454,787 UK Biobank participants.
Backman JD et al.
Nature, 2021
Prenatal detection of isolated bilateral hyperechogenic kidneys: Etiologies and outcomes.
Shuster S et al.
Prenatal Diagnosis, 2019
PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.
Ali H et al.
Scientific Reports, 2019
Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
Carrera P et al.
Scientific Reports, 2016
27499327 (PubMed )
Supplement: srep30850-s2.xlsx › Sheet1
Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.
Liu B et al.
Scientific Reports, 2015
26632257 (PubMed )
Supplement: srep17468-s1.doc
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
Tan AY et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.
Rossetti S et al.
Journal of the American Society of Nephrology : Jasn, 2007
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype.
Rossetti S et al.
Lancet (london, England), 2003
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
Garcia-Gonzalez MA et al.
Molecular Genetics and Metabolism, 0
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