Renal fibrosis is the common feature of Autosomal Dominant Tubulointerstitial Kidney Diseases caused by mutations in mucin 1 or uromodulin
Ekici AB, Hackenbeck T, Morinière V et al. Renal fibrosis is the common feature of Autosomal Dominant Tubulointerstitial Kidney Diseases caused by mutations in mucin 1 or uromodulin. Kidney Int 2014; 86: 589-599.
Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
Hart TC, Gorry MC, Hart PS et al. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 2002; 39: 882-892.
Late occurrence of cysts in autosomal dominant medullary cystic kidney disease
Neumann HPH, Zauner I, Strahm B et al. Late occurrence of cysts in autosomal dominant medullary cystic kidney disease. Nephrol Dial Transplant 1997; 12: 1242-1246.
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure
Zivna M, Hulkova H, Matignon M et al. Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet 2009; 86: 204-213.
Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone
Bleyer AJ, Zivná M, Hulková H et al. Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone. Clin Nephrol 2010; 74: 411-422.
Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot families
Stavrou C, Koptides M, Tombazos C et al. Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int 2002; 62: 1385-1394.
Medullary cystic kidney disease type 1: Mutational analysis in 37 genes based on haplotype sharing
Wolf MTF, Mucha BE, Hennies HC et al. Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing. Hum Genet 2006; 119: 649-658.
Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
Kirby A, Gnirke A, Jaffe DB et al. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing. Nat Genet 2013; 45: 288-393.
Genomewide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21
Piret SE, Danoy P, Dahan K et al. Genomewide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21. Hum Genet 2011; 129: 51-58.
A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta
Lindner TH, Njolstad PR, Horikawa Y et al. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta. Hum Mol Genet 1999; 8: 2001-2008.