Clinical and genetic features in autosomal recessive and X-linked Alport syndrome-Reference-Cited by-同舟云学术

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Clinical and genetic features in autosomal recessive and X-linked Alport syndrome

Published:2013-11-02 Issue:3 Volume:29 Page:391-396
ISSN:0931-041X
Container-title:Pediatric Nephrology
language:en
Short-container-title:Pediatr Nephrol

Author:

Wang Yanyan,Sivakumar Vanessa,Mohammad Mardhiah,Colville Deb,Storey Helen,Flinter Frances,Dagher Hayat,Savige Judy

Publisher

Springer Science and Business Media LLC

Subject

Nephrology,Pediatrics, Perinatology, and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s00467-013-2643-0.pdf

Reference17 articles.

1. Gubler M, Levy M, Broyer M, Naizot C, Gonzales G, Perrin D, Habib R (1981) Alport's syndrome. A report of 58 cases and a review of the literature. Am J Med 70:493–505

2. Flinter FA, Cameron JS, Chantler C, Houston I, Bobrow M (1988) Genetics of classic Alport's syndrome. Lancet 2:1005–1007

3. Feingold J, Bois E, Chompret A, Broyer M, Gubler MC, Grunfeld JP (1985) Genetic heterogeneity of Alport syndrome. Kidney Int 27:672–677

4. Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K (1990) Identification of mutations in the COL4A5 collagen gene in Alport syndrome. Science 248:1224–1227

5. Mochizuki T, Lemmink HH, Mariyama M, Antignac C, Gubler MC, Pirson Y, Verellen-Dumoulin C, Chan B, Schroder CH, Smeets HJ, Reeders ST (1994) Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet 8:77–81

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1. Case report: A case report of Alport syndrome caused by a novel mutation of COL4A5;Frontiers in Genetics;2023-07-17

2. Electroretinographic abnormalities in Alport syndrome with a novel COL4A5 truncated variant (p.Try20GlyfsTer19);Documenta Ophthalmologica;2023-05-10

3. Alport Syndrome: A Comprehensive Review on Genetics, Pathophysiology, Histology, Clinical and Therapeutic Perspectives;Current Medicinal Chemistry;2021-09-08

4. Organoprotective Effects of Spironolactone on Top of Ramipril Therapy in a Mouse Model for Alport Syndrome;Journal of Clinical Medicine;2021-06-30

5. The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies;Progress in Retinal and Eye Research;2021-05

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