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Journal Abstract Search

198 related items for PubMed ID: 22919268

  • 1. 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
    [Abstract] [Full Text] [Related]

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

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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 10; 512(2):482-5. PubMed ID: 23085274
    [Abstract] [Full Text] [Related]

  • 5. Twenty-one novel mutations identified in the COL4A5 gene in Chinese patients with X-linked Alport's syndrome confirmed by skin biopsy.
    Ma J, Pan X, Wang Z, Wang Y, Feng X, Ren H, Zhang W, Chen X, Wang W, Chen N.
    Nephrol Dial Transplant; 2011 Dec 10; 26(12):4003-10. PubMed ID: 21505094
    [Abstract] [Full Text] [Related]

  • 6. Correlation between mRNA expression level of the mutant COL4A5 gene and phenotypes of XLAS females.
    Wang Y, Zhang H, Ding J, Wang F.
    Exp Biol Med (Maywood); 2007 May 10; 232(5):638-42. PubMed ID: 17463160
    [Abstract] [Full Text] [Related]

  • 7. Mutation in alpha 5(IV) collagen chain gene in nonfamilial hematuria.
    Kitagawa K, Nakanishi K, Iijima K, Nishio H, Sado Y, Sano K, Nakamura H, Yoshikawa N.
    J Am Soc Nephrol; 1995 Aug 10; 6(2):264-8. PubMed ID: 7579094
    [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 10; 23(8):2525-30. PubMed ID: 18332068
    [Abstract] [Full Text] [Related]

  • 9. 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 Aug 10; 160(5):238-244. PubMed ID: 32659759
    [Abstract] [Full Text] [Related]

  • 10. A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome.
    Aoto Y, Kise T, Nakanishi K, Nagano C, Horinouchi T, Yamamura T, Ishiko S, Sakakibara N, Shima Y, Morisada N, Iijima K, Nozu K.
    CEN Case Rep; 2020 Nov 10; 9(4):431-436. PubMed ID: 32621070
    [Abstract] [Full Text] [Related]

  • 11. Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.
    Wang F, Wang Y, Ding J, Yang J.
    Kidney Int; 2005 Apr 10; 67(4):1268-74. PubMed ID: 15780079
    [Abstract] [Full Text] [Related]

  • 12. 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 10; 20(5):699-702. PubMed ID: 26581810
    [Abstract] [Full Text] [Related]

  • 13. Novel Mutations of COL4A5 Identified in Chinese Families with X-Linked Alport Syndrome and Literature Review.
    Gong WY, Liu FN, Yin LH, Zhang J.
    Biomed Res Int; 2021 Oct 10; 2021():6664973. PubMed ID: 33748275
    [Abstract] [Full Text] [Related]

  • 14. 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 Oct 10; 2014():186048. PubMed ID: 25110662
    [Abstract] [Full Text] [Related]

  • 15. Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
    Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N.
    Hum Mutat; 2001 Aug 10; 18(2):141-8. PubMed ID: 11462238
    [Abstract] [Full Text] [Related]

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  • 17. 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 10; 20(4):203-7. PubMed ID: 26866448
    [Abstract] [Full Text] [Related]

  • 18. 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 10; 62(12):1572-1579. PubMed ID: 31209800
    [Abstract] [Full Text] [Related]

  • 19. A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.
    Arrondel C, Deschênes G, Le Meur Y, Viau A, Cordonnier C, Fournier A, Amadeo S, Gubler MC, Antignac C, Heidet L.
    Kidney Int; 2004 Jun 10; 65(6):2030-40. PubMed ID: 15149316
    [Abstract] [Full Text] [Related]

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