Associated Papers
Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.
Huang YC et al.
Journal of Personalized Medicine, 2023
37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants
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
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index
Identification of MMP1 as a novel risk factor for intracranial aneurysms in ADPKD using iPSC models.
Ameku T et al.
Scientific Reports, 2016
PKD2 mutation in an Iranian autosomal dominant polycystic kidney disease family with misleading linkage analysis data.
Entezam M et al.
Kidney Research and Clinical Practice, 2016
Genetic analysis of Iranian autosomal dominant polycystic kidney disease: new insight to haplotype analysis.
Entezam M et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2016
Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.
Kinoshita M et al.
Plos One, 2016
27835667 (PubMed )
Supplement: pone.0166288.s005.xls › S3_Table
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
Tan AY et al.
The Journal of Molecular Diagnostics : Jmd, 2014
Genetic diagnosis of autosomal dominant polycystic kidney disease by targeted capture and next-generation sequencing: utility and limitations.
Qi XP et al.
Gene, 2013
Clinical utility of PKD2 mutation testing in a polycystic kidney disease cohort attending a specialist nephrology out-patient clinic.
Robinson C et al.
Bmc Nephrology, 2012
PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.
Chung W et al.
Clinical Genetics, 2006
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
Deltas CC
Human Mutation, 2001
Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
Garcia-Gonzalez MA et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details