Associated Papers
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf
Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes.
Charmet R et al.
Cardiovascular Diabetology, 2018
Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.
Kürschner G et al.
Oncotarget, 2017
29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations
Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.
Borràs DM et al.
Human Mutation, 2017
28378423 (PubMed )
Supplement: HUMU-38-870-s001.pdf
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
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
Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.
Tan AY et al.
The Journal of Molecular Diagnostics : Jmd, 2014
High Resolution Melt analysis for mutation screening in PKD1 and PKD2.
Bataille S et al.
Bmc Nephrology, 2011
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
21701589 (PubMed )
Supplement: pone.0021097.s002.xls › rd1_f40r3
Incompletely penetrant PKD1 alleles mimic the renal manifestations of ARPKD.
Vujic M et al.
Journal of the American Society of Nephrology : Jasn, 2010
Novel method for genomic analysis of PKD1 and PKD2 mutations in autosomal dominant polycystic kidney disease.
Tan YC et al.
Human Mutation, 2009
Mutation screening of the PKD1 transcript by RT-PCR.
Burtey S et al.
Journal of Medical Genetics, 2002
Mutation detection in the duplicated region of the polycystic kidney disease 1 (PKD1) gene in PKD1-linked Australian families.
McCluskey M et al.
Human Mutation, 2002
Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.
Wu G et al.
Molecular Genetics and Metabolism, 2000
Identification of mutations in the repeated part of the autosomal dominant polycystic kidney disease type 1 gene, PKD1, by long-range PCR.
Thomas R et al.
American Journal of Human Genetics, 1999
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