Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant?-Reference-Cited by-同舟云学术

Should We Diagnose Autosomal Dominant Alport Syndrome When There Is a Pathogenic Heterozygous COL4A3 or COL4A4 Variant?

Published:2018-11 Issue:6 Volume:3 Page:1239-1241
ISSN:2468-0249
Container-title:Kidney International Reports
language:en
Short-container-title:Kidney International Reports

Author:

Savige Judy

Publisher

Elsevier BV

Subject

Nephrology

Reference22 articles.

1. Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia;Ciccarese;Nephrol Dial Transplant,2001

2. Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing;Deng;Indian J Med Res,2016

3. Autosomal dominant form of type IV collagen nephropathy exists among patients with hereditary nephritis difficult to diagnose clinicopathologically;Imafuku;Nephrology (Carlton),2018

4. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene;Pescucci;Kidney Int,2004

5. COL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome;Rosado;Int J Mol Epidemiol Genet,2014

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1. Increased prevalence of kidney cysts in individuals carrying heterozygous COL4A3 or COL4A4 pathogenic variants;Nephrology Dialysis Transplantation;2024-02-05

2. Is there a dominant‐negative effect in individuals with heterozygous disease‐causing variants in COL4A3/COL4A4?;Clinical Genetics;2024-01-12

3. Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome;Nephrology Dialysis Transplantation;2024-01-04

4. Clinicopathological Features of Hereditary Nephritis in the Iranian Population: Analysis of a 14-Year Survey in Kidney Biopsies From a Large Referral Center;Archives of Iranian Medicine;2024-01-01

5. Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families;Kidney Medicine;2023-04