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Journal Abstract Search

326 related items for PubMed ID: 32621070

  • 1. 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; 9(4):431-436. PubMed ID: 32621070
    [Abstract] [Full Text] [Related]

  • 2. Female X-linked Alport syndrome with somatic mosaicism.
    Yokota K, Nozu K, Minamikawa S, Yamamura T, Nakanishi K, Kaneda H, Hamada R, Nozu Y, Shono A, Ninchoji T, Morisada N, Ishimori S, Fujimura J, Horinouchi T, Kaito H, Nakanishi K, Morioka I, Taniguchi-Ikeda M, Iijima K.
    Clin Exp Nephrol; 2017 Oct; 21(5):877-883. PubMed ID: 27796712
    [Abstract] [Full Text] [Related]

  • 3. Germline mosaicism is a pitfall in the diagnosis of "sporadic" X-linked Alport syndrome.
    Okamoto T, Nozu K, Iijima K, Ariga T.
    J Nephrol; 2019 Feb; 32(1):155-159. PubMed ID: 30062677
    [Abstract] [Full Text] [Related]

  • 4. [Application of multiplex ligation-dependent probe amplification in gene diagnosis of X-linked Alport syndrome].
    Zhang YQ, Zhao D, Yu LX, Ding J, Wang F.
    Zhonghua Yi Xue Za Zhi; 2012 Oct 30; 92(40):2825-9. PubMed ID: 23290210
    [Abstract] [Full Text] [Related]

  • 5. Somatic mosaicism and variant frequency detected by next-generation sequencing in X-linked Alport syndrome.
    Fu XJ, Nozu K, Kaito H, Ninchoji T, Morisada N, Nakanishi K, Yoshikawa N, Ohtsubo H, Matsunoshita N, Kamiyoshi N, Matsumura C, Takagi N, Maekawa K, Taniguchi-Ikeda M, Iijima K.
    Eur J Hum Genet; 2016 Mar 30; 24(3):387-91. PubMed ID: 26014433
    [Abstract] [Full Text] [Related]

  • 6. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 30; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 7. [Detection of large deletions in X linked Alport syndrome using competitive multiplex fluorescence polymerase chain reaction].
    Wang F, Zhang YQ, Ding J, Yu LX.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2017 Oct 18; 49(5):760-767. PubMed ID: 29045953
    [Abstract] [Full Text] [Related]

  • 8. Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.
    Beicht S, Strobl-Wildemann G, Rath S, Wachter O, Alberer M, Kaminsky E, Weber LT, Hinrichsen T, Klein HG, Hoefele J.
    Gene; 2013 Sep 10; 526(2):474-7. PubMed ID: 23732293
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. 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
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  • 12. [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 10; 45(7):484-9. PubMed ID: 17953801
    [Abstract] [Full Text] [Related]

  • 13. 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 10; 32(6):997-1003. PubMed ID: 28013382
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  • 15. Detection of Very Low-Level Somatic Mosaic COL4A5 Splicing Variant in Asymptomatic Female Using Droplet Digital PCR.
    Deng H, Zhang Y, Ding J, Wang F.
    Front Med (Lausanne); 2022 Jun 10; 9():847056. PubMed ID: 35360741
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  • 17. Detection of Cryptic Mosaicism in X-linked Alport Syndrome Prompts to Re-evaluate Living-donor Kidney Transplantation.
    Pinto AM, Daga S, Fallerini C, Bruttini M, Baldassarri M, Giliberti A, Frullanti E, Guarnieri A, Garosi G, Renieri A.
    Transplantation; 2020 Nov 10; 104(11):2360-2364. PubMed ID: 31895869
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  • 19. Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.
    Liang L, Wu H, Cai Z, Zhao J.
    BMC Med Genomics; 2023 Aug 18; 16(1):192. PubMed ID: 37596645
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