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Journal Abstract Search

250 related items for PubMed ID: 10094548

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  • 2. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
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  • 4. Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
    Martin P, Heiskari N, Pajari H, Grönhagen-Riska C, Kääriäinen H, Koskimies O, Tryggvason K.
    Hum Mutat; 2000 Jun; 15(6):579. PubMed ID: 10862091
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  • 5. A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.
    King K, Flinter FA, Green PM.
    Hum Mutat; 2006 Oct; 27(10):1061. PubMed ID: 16941480
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  • 6. Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
    Boye E, Flinter F, Zhou J, Tryggvason K, Bobrow M, Harris A.
    Hum Mutat; 1995 Oct; 5(3):197-204. PubMed ID: 7599631
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  • 7. Three novel COL4A4 mutations resulting in stop codons and their clinical effects in autosomal recessive Alport syndrome.
    Dagher H, Yan Wang Y, Fassett R, Savige J.
    Hum Mutat; 2002 Oct; 20(4):321-2. PubMed ID: 12325029
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  • 8. Detection of COL4A5 gene mutations in Chinese patients with Alport's syndrome.
    Pan X, Yan J, Ren H, Zhang W, Shi H, Yu H, Wang C, Hao C, Chen X, Chen N.
    Nephrol Dial Transplant; 2004 May; 19(5):1123-8. PubMed ID: 14993485
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  • 9. Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
    Knebelmann B, Breillat C, Forestier L, Arrondel C, Jacassier D, Giatras I, Drouot L, Deschênes G, Grünfeld JP, Broyer M, Gubler MC, Antignac C.
    Am J Hum Genet; 1996 Dec; 59(6):1221-32. PubMed ID: 8940267
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  • 11. MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.
    Hertz JM, Juncker I, Marcussen N.
    Clin Genet; 2008 Dec; 74(6):522-30. PubMed ID: 18616531
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  • 16. Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome.
    Brooimans RA, van den Berg AJ, Tamminga RY, Revesz T, Wulffraat NM, Zegers BJ.
    Hum Mutat; 2000 Apr; 15(4):386-7. PubMed ID: 10737997
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  • 17. 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 Apr; 11(9):e0161802. PubMed ID: 27627812
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  • 19. A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
    Peissel B, Rossetti S, Renieri A, Galli L, De Marchi M, Battini G, Meroni M, Sessa A, Schiavano S, Pignatti PF.
    Hum Mutat; 1994 Apr; 3(4):386-90. PubMed ID: 8081393
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  • 20. Clinical and genetic mapping of X chromosome in the X-linked dominant inherited Alport's syndrome.
    Dai Y, Huang Y, He X, Wang S, Huang R, Tang M, Hu C.
    Saudi J Kidney Dis Transpl; 2008 Sep; 19(5):767-74. PubMed ID: 18711293
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