BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

137 related articles for article (PubMed ID: 19065523)

  • 1. [A novel COL4A5 splicing mutation causing Alport syndrome in a Chinese family].
    Tang Z; Dai Y; Wan Z; Zhan T; Tan J; Ren X; Liu J; Wang Q; Liu M
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Dec; 25(6):649-52. PubMed ID: 19065523
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.
    Malone AF; Funk SD; Alhamad T; Miner JH
    Pediatr Nephrol; 2017 Jun; 32(6):997-1003. PubMed ID: 28013382
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Novel Splicing Mutation Identified in a Chinese Family with X-linked Alport Syndrome Using Targeted Next-Generation Sequencing.
    Chen C; Lu CX; Wang Q; Cao LH; Luo Y; Zhang X
    Genet Test Mol Biomarkers; 2016 Apr; 20(4):203-7. PubMed ID: 26866448
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Comparative Functional Analysis in vitro of 2 COL4A5 Splicing Mutations at the Same Site in 2 Unrelated Alport Syndrome Chinese Families.
    Lv X; Wu WQ; Zhang JX; Miao LF; Yu BZ; Chen FF; Cui YX; Xia ZK; Liu ZH; Li XJ
    Cytogenet Genome Res; 2020; 160(5):238-244. PubMed ID: 32659759
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutation c.359_363delGTATTinsATAC in the COL4A5 causes Alport syndrome in a Chinese family.
    Wang Q; Liu F; Xing Y; Wei X; Li H; Zhang S; Liu J; Wang Q; Tang Z; Liu M
    Gene; 2013 Jan; 512(2):482-5. PubMed ID: 23085274
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A disease-causing variant of COL4A5 in a Chinese family with Alport syndrome: a case series.
    Wu J; Zhang J; Liu L; Zhang B; Yamamura T; Nozu K; Matsuo M; Zhao J
    BMC Nephrol; 2021 Nov; 22(1):380. PubMed ID: 34774011
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Alport syndrome. Molecular genetic aspects.
    Hertz JM
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.
    Krol RP; Nozu K; Nakanishi K; Iijima K; Takeshima Y; Fu XJ; Nozu Y; Kaito H; Kanda K; Matsuo M; Yoshikawa N
    Nephrol Dial Transplant; 2008 Aug; 23(8):2525-30. PubMed ID: 18332068
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Detection of a novel mutation in COL4A5 gene from a Chinese family with X-linked alport syndrome].
    Peng CL; Liang H; Z ou QL; Wang J; Liu CS; Zhang XF; Chen J; Hu SN
    Yi Chuan Xue Bao; 2004 Nov; 31(11):1190-5. PubMed ID: 15651669
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.
    Baikara BT; Zholdybayeva EV; Rakhimova SE; Nigmatullina NB; Momynaliev KT; Ramanculov YM
    PLoS One; 2015; 10(7):e0132010. PubMed ID: 26168235
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.
    Xiu X; Yuan J; Deng X; Xiao J; Xu H; Zeng Z; Guan L; Xu F; Deng S
    Biomed Res Int; 2014; 2014():186048. PubMed ID: 25110662
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of a novel COL4A5 mutation in the proband initially diagnosed as IgAN from a Chinese family with X-linked Alport syndrome.
    Li Z; Zhu P; Huang H; Pan Y; Han P; Cui H; Kang Z; Xun M; Zhang Y; Liu S; Wang J; Wu J
    Sci China Life Sci; 2019 Dec; 62(12):1572-1579. PubMed ID: 31209800
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel Mutations of
    Gong WY; Liu FN; Yin LH; Zhang J
    Biomed Res Int; 2021; 2021():6664973. PubMed ID: 33748275
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel splice site mutation in the COL4A5 gene in a Chinese female patient with rare ocular abnormalities.
    Zhao C; Wang F; Zhang Y; Wen Y; Su Y; Zhang C; Sui R; Xu F; Ding J; Dong F
    Mol Vis; 2012; 18():2205-12. PubMed ID: 22919268
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Prenatal diagnosis and genetic counseling of X-linked Alport syndrome in China].
    Zhang HW; Ding J; Wang F; Yang HX
    Zhonghua Er Ke Za Zhi; 2007 Jul; 45(7):484-9. PubMed ID: 17953801
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.
    Arrondel C; DeschĂȘnes G; Le Meur Y; Viau A; Cordonnier C; Fournier A; Amadeo S; Gubler MC; Antignac C; Heidet L
    Kidney Int; 2004 Jun; 65(6):2030-40. PubMed ID: 15149316
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prenatal diagnosis and genetic counseling of a Chinese Alport syndrome kindred.
    Zhang H; Ding J; Wang F; Yang H
    Genet Test; 2008 Mar; 12(1):1-7. PubMed ID: 18373399
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].
    Liu X; Gao M; Zou Y; Wang L; Kang R; Xu P; Niu Y; Huang S; Li J; Xie H; Gao Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Aug; 37(8):807-810. PubMed ID: 32761583
    [TBL] [Abstract][Full Text] [Related]  

  • 19. X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.
    Fu XJ; Nozu K; Eguchi A; Nozu Y; Morisada N; Shono A; Taniguchi-Ikeda M; Shima Y; Nakanishi K; Vorechovsky I; Iijima K
    Clin Exp Nephrol; 2016 Oct; 20(5):699-702. PubMed ID: 26581810
    [TBL] [Abstract][Full Text] [Related]  

  • 20. X-linked Alport syndrome caused by splicing mutations in COL4A5.
    Nozu K; Vorechovsky I; Kaito H; Fu XJ; Nakanishi K; Hashimura Y; Hashimoto F; Kamei K; Ito S; Kaku Y; Imasawa T; Ushijima K; Shimizu J; Makita Y; Konomoto T; Yoshikawa N; Iijima K
    Clin J Am Soc Nephrol; 2014 Nov; 9(11):1958-64. PubMed ID: 25183659
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.