Associated Papers
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
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_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
Genomic profiling of colorectal cancer with isolated lung metastasis.
Zhang N et al.
Cancer Cell International, 2020
32624706 (PubMed )
Supplement: 12935_2020_1373_MOESM3_ESM.xlsx › Sheet1
Prospective Cardiovascular Genetics Evaluation in Spontaneous Coronary Artery Dissection.
Kaadan MI et al.
Circulation. Genomic and Precision Medicine, 2018
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
Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease.
Liu B et al.
Scientific Reports, 2015
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
PKD2 gene mutation analysis in Korean autosomal dominant polycystic kidney disease patients using two-dimensional gene scanning.
Chung W et al.
Clinical Genetics, 2006
Mutation analysis of autosomal dominant polycystic kidney disease genes in Han Chinese.
Zhang S et al.
Nephron. Experimental Nephrology, 2005
Mutations of the human polycystic kidney disease 2 (PKD2) gene.
Deltas CC
Human Mutation, 2001
Select a paper to view details