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PUBMED FOR HANDHELDS

Journal Abstract Search


335 related items for PubMed ID: 25183659

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  • 23. 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
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  • 24. Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.
    Sá MJ, Fieremans N, de Brouwer AP, Sousa R, e Costa FT, Brito MJ, Carvalho F, Rodrigues M, de Sousa FT, Felgueiras J, Neves F, Carvalho A, Ramos U, Vizcaíno JR, Alves S, Carvalho F, Froyen G, Oliveira JP.
    J Med Genet; 2013 Nov; 50(11):745-53. PubMed ID: 23958657
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  • 27. A deep intronic splice variant of the COL4A5 gene in a Chinese family with X-linked Alport syndrome.
    Qian P, Bao Y, Huang HM, Suo L, Han Y, Li ZJ, Zhang M.
    Front Pediatr; 2022 Nov; 10():1009188. PubMed ID: 36714647
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  • 28. 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
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  • 29. X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
    Savige J, Storey H, Il Cheong H, Gyung Kang H, Park E, Hilbert P, Persikov A, Torres-Fernandez C, Ars E, Torra R, Hertz JM, Thomassen M, Shagam L, Wang D, Wang Y, Flinter F, Nagel M.
    PLoS One; 2016 Sep 10; 11(9):e0161802. PubMed ID: 27627812
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  • 30. Effect of heterozygous pathogenic COL4A3 or COL4A4 variants on patients with X-linked Alport syndrome.
    Zhang Y, Ding J, Zhang H, Yao Y, Xiao H, Wang S, Wang F.
    Mol Genet Genomic Med; 2019 May 10; 7(5):e647. PubMed ID: 30883042
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  • 31. Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
    Weber S, Strasser K, Rath S, Kittke A, Beicht S, Alberer M, Lange-Sperandio B, Hoyer PF, Benz MR, Ponsel S, Weber LT, Klein HG, Hoefele J.
    Pediatr Nephrol; 2016 Jun 10; 31(6):941-55. PubMed ID: 26809805
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  • 32. 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
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  • 35. A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.
    Chen S, Xu G, Zhao Z, Du J, Shen B, Li C.
    BMC Med Genomics; 2024 Apr 26; 17(1):108. PubMed ID: 38671472
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  • 37. [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 26; 31(11):1190-5. PubMed ID: 15651669
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