Results 121 to 130 of about 23,214 (166)

Functional assessment of a novel COL4A5 splicing site variant in a Chinese X-linked Alport syndrome family. [PDF]

Ann Transl Med, 2021
Chen X, Ye N, Zhang L, Zheng W, Cheng J, Gong M.   +5 more
europepmc   +1 more source

Unveiling Maternal Germline Mosaicism in X-Linked Alport Syndrome by Advanced Genetic Testing. [PDF]

Am J Case Rep
Shen Y, Liu C, Wei W, Huang Y, Zhu Q, Zhao Y.   +5 more
europepmc   +1 more source

A Novel <i>Col4a5</i>-G814fs Knock-In Mouse Model Reveals Phenotypic Heterogeneity Among Truncating <i>COL4A5</i> Mutations in X-Linked Alport Syndrome. [PDF]

Genes (Basel)
Lin Y, Sun L, Li M, Kuang X, Gong X, Cai Q, Chen Y, Xu M, Huang W, Zeng F.   +9 more
europepmc   +1 more source

Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review. [PDF]

Biomed Res Int, 2021
Gong WY, Liu FN, Yin LH, Zhang J.
europepmc   +1 more source

A comprehensive splicing characterization of COL4A5 mutations and prognostic significance in a single cohort with X-linked alport syndrome. [PDF]

Front Genet
Li H, Zhang S, Zhou W, Wang C, Zhu C, Zhao S, Zhao F, Jia Z, Zhang A, Zheng B, Ding G.   +10 more
europepmc   +1 more source

Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study. [PDF]

Glob Pediatr Health
Juan-Juan D, Jia W, Li-Li L, Si W, Xiao-Wen W, Jiang-Wei L, Li-Qin K, Jie S, Pei-Wei Z.   +8 more
europepmc   +1 more source

Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report. [PDF]

Case Rep Nephrol Dial
Uedono H, Mori K, Nakatani S, Watanabe K, Nakaya R, Morioka F, Sone K, Ono C, Hotta J, Tsuda A, Morisada N, Seto T, Nozu K, Emoto M.   +13 more
europepmc   +1 more source

Identification of four novel mutations in the COL4A5 gene identified in Chinese patients with X-linked Alport syndrome. [PDF]

Biomed Rep, 2020
Zhao X, Shang X, Chen C, Liu L, Wang C, Zhao G, Zhang J, Kong X.   +7 more
europepmc   +1 more source

Acute Aortic Dissection in X-Linked Alport Syndrome

Kidney International Case Reports
Marcus Au, Jose Coelho Lima, Emma Feechan, John A. Sayer   +3 more
openaire   +1 more source

Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome. [PDF]

Mol Genet Genomic Med, 2019
Zhang Y, Ding J, Zhang H, Yao Y, Xiao H, Wang S, Wang F.   +6 more
europepmc   +1 more source