Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
Weber, Stefanie; Strasser, Katja; Rath, Sabine; Kittke, Achim; Beicht, Sonja; Alberer, Martin; Lange-Sperandio, Bärbel; Hoyer, Peter F; Benz, Marcus R; Ponsel, Sabine; Weber, Lutz T; Klein, Hanns-Georg; Hoefele, Julia.
; 31(6): 941-55, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26809805
Familial hematuria: A review.
Macroscopic hematuria with normal renal biopsy-following the chain to the diagnosis: Questions.
Female X-linked Alport syndrome with somatic mosaicism.
Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.
[Clinical and pathological features and the misdiagnosis of childhood Alport syndrome: a retrospective analysis of 91 cases].
Coinheritance of COL4A5 and MYO1E mutations accentuate the severity of kidney disease.
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport Syndrome.
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
Combined Alport syndrome and Klinefelter syndrome.