The value of genetic testing in polycystic kidney diseases illustrated by a family with PKD2 and COL4A1 mutations
E Cornec-Le Gall, FT Chebib, CD Madsen… - American Journal of …, 2018 - Elsevier
The diagnosis of autosomal dominant polycystic kidney disease (ADPKD) relies on imaging
criteria in the setting of a positive familial history. Molecular analysis, seldom used in clinical …
criteria in the setting of a positive familial history. Molecular analysis, seldom used in clinical …
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotype
SR Senum, YSM Li, KA Benson, G Joli… - The American Journal of …, 2022 - cell.com
Autosomal dominant polycystic kidney disease (ADPKD), characterized by progressive cyst
formation/expansion, results in enlarged kidneys and often end stage kidney disease …
formation/expansion, results in enlarged kidneys and often end stage kidney disease …
Identification of ACOT13 and PTGER2 as novel candidate genes of autosomal dominant polycystic kidney disease through whole exome sequencing
N Du, D Dong, L Sun, L Che, X Li, Y Liu… - European Journal of …, 2021 - Springer
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common
monogenic kidney disorder. Half of the patients would slowly progress to end-stage renal …
monogenic kidney disorder. Half of the patients would slowly progress to end-stage renal …
Detection of PKD1 and PKD2 somatic variants in autosomal dominant polycystic kidney cyst epithelial cells by whole-genome sequencing
Background Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder
characterized by the development of multiple cysts in the kidneys. It is often caused by …
characterized by the development of multiple cysts in the kidneys. It is often caused by …
Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism
AY Tan, J Blumenfeld, A Michaeel, S Donahue… - Clinical …, 2015 - Wiley Online Library
Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous genetic
disorder caused by loss of function mutations of PKD1 or PKD2 genes. Although PKD1 is …
disorder caused by loss of function mutations of PKD1 or PKD2 genes. Although PKD1 is …
Mainstreaming genetic testing for adult patients with autosomal dominant polycystic kidney disease
MD Elliott, LC James, EL Simms… - … Journal of Kidney …, 2021 - journals.sagepub.com
Purpose: Genetic testing results are currently obtained approximately 1 year after referral to
a medical genetics team for autosomal dominant polycystic kidney disease (ADPKD). We …
a medical genetics team for autosomal dominant polycystic kidney disease (ADPKD). We …
Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease
T Fujimaru, T Mori, A Sekine, S Mandai… - Clinical …, 2018 - Wiley Online Library
Distinguishing autosomal‐dominant polycystic kidney disease (ADPKD) from other inherited
renal cystic diseases in patients with adult polycystic kidney disease and no family history is …
renal cystic diseases in patients with adult polycystic kidney disease and no family history is …
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease
T Eisenberger, C Decker, M Hiersche, RC Hamann… - PloS one, 2015 - journals.plos.org
Renal cysts are clinically and genetically heterogeneous conditions. Autosomal dominant
polycystic kidney disease (ADPKD) is the most frequent life-threatening genetic disease and …
polycystic kidney disease (ADPKD) is the most frequent life-threatening genetic disease and …
Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease
MY Chang, HM Chen, CC Jenq, SY Lee… - Journal of human …, 2013 - nature.com
Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous disease
caused by mutations in PKD1 and PKD2. The genotype–phenotype correlations are not …
caused by mutations in PKD1 and PKD2. The genotype–phenotype correlations are not …
Gene Conversion is a Likely Cause of Mutation in PKD1
TJ Watnick, MA Gandolph, H Weber… - Human Molecular …, 1998 - academic.oup.com
Approximately 70% of the gene responsible for the most common form of autosomal
dominant polycystic kidney disease (PKD1) is replicated in several highly homologous …
dominant polycystic kidney disease (PKD1) is replicated in several highly homologous …