Results 91 to 100 of about 3,450 (166)

COL4A5 Gene [PDF]

, 2020
openaire   +1 more source

Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome

Frontiers in Medicine
Alport syndrome (AS) is a genetically heterogeneous disorder caused by mutations in type IV collagen genes, clinically characterized by progressive renal function deterioration. Despite advances in genetic screening technologies, cases resulting from non-
Xue Wang, Xue Wang, Linlin Dong, Linlin Dong, Hui Qiu, Hui Qiu, Beibei Wang, Beibei Wang, Sanfeng Wang, Sanfeng Wang, Weiran Zhou, Weiran Zhou   +11 more
doaj   +1 more source

COL4A5 wt Allele [PDF]

, 2020
openaire   +1 more source

Alport’s Syndrome

Turkish Journal of Nephrology, 2019
Alport’s syndrome is a hereditary kidney disease, frequently associated with hearing loss and ocular abnormalities. Type IV collagen is the main constituent of the basement membranes.
Tayfun AKALIN, M. Deniz AYLI, Ekrem ABAYLI   +2 more
doaj  

Identification and pathogenicity analysis of a novel intronic <i>COL4A5</i> variant in a Chinese family. [PDF]

Front Med (Lausanne)
Qian P, Huang HM, Suo L, Li Z, Zhang M, Bao Y.   +5 more
europepmc   +1 more source

Case Report: Early diagnosis of X-linked Alport syndrome in a pediatric patient and literature review. [PDF]

Front Pediatr
Gong Y, Guo H, Yang Z.
europepmc   +1 more source

Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome. [PDF]

Front Genet
Gao J, Zhou H, Zhang L, Su Z, Liu S.
europepmc   +1 more source

mRNA Sequencing to Identify Aberrant Splicing in X-linked Alport Syndrome. [PDF]

Kidney Int Rep
Rao D, van den Berge BT, Vulto-van Silfhout AT, Rood IM, van Wijk JAE, Bökenkamp A, Damen L, Rump P, van der Smagt JJ, Jansen J, Smeets B, Wetzels JF, Maas RJ, van Geel M.   +13 more
europepmc   +1 more source

Kidney transplantation in Alport syndrome: A genotype-guided case series and literature review. [PDF]

Turk J Surg
Gavrilovska-Brzanov A, Sulejmani H, Dohcev S, Spasovski G, Georgievski N, Trifunovski A, Trajkovski D, Jovanovski Srceva M, Brzanov N.   +8 more
europepmc   +1 more source

Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results. [PDF]

Eur J Hum Genet
Riedhammer KM, Richthammer P, Westphal DS, Ćomić J, Günthner R, Braunisch MC, Büscher AK, Klein HG, Weber S, Hoefele J.   +9 more
europepmc   +1 more source