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Journal Abstract Search

225 related items for PubMed ID: 7987301

  • 1. Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome.
    Lemmink HH, Mochizuki T, van den Heuvel LP, Schröder CH, Barrientos A, Monnens LA, van Oost BA, Brunner HG, Reeders ST, Smeets HJ.
    Hum Mol Genet; 1994 Aug; 3(8):1269-73. PubMed ID: 7987301
    [Abstract] [Full Text] [Related]

  • 2. Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.
    Heidet L, Arrondel C, Forestier L, Cohen-Solal L, Mollet G, Gutierrez B, Stavrou C, Gubler MC, Antignac C.
    J Am Soc Nephrol; 2001 Jan; 12(1):97-106. PubMed ID: 11134255
    [Abstract] [Full Text] [Related]

  • 3. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
    Longo I, Porcedda P, Mari F, Giachino D, Meloni I, Deplano C, Brusco A, Bosio M, Massella L, Lavoratti G, Roccatello D, Frascá G, Mazzucco G, Muda AO, Conti M, Fasciolo F, Arrondel C, Heidet L, Renieri A, De Marchi M.
    Kidney Int; 2002 Jun; 61(6):1947-56. PubMed ID: 12028435
    [Abstract] [Full Text] [Related]

  • 4. Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).
    Jefferson JA, Lemmink HH, Hughes AE, Hill CM, Smeets HJ, Doherty CC, Maxwell AP.
    Nephrol Dial Transplant; 1997 Aug; 12(8):1595-9. PubMed ID: 9269635
    [Abstract] [Full Text] [Related]

  • 5. Autosomal dominant Alport syndrome caused by a COL4A3 splice site mutation.
    van der Loop FT, Heidet L, Timmer ED, van den Bosch BJ, Leinonen A, Antignac C, Jefferson JA, Maxwell AP, Monnens LA, Schröder CH, Smeets HJ.
    Kidney Int; 2000 Nov; 58(5):1870-5. PubMed ID: 11044206
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. COL4A4 mutation in thin basement membrane disease previously described in Alport syndrome.
    Buzza M, Wang YY, Dagher H, Babon JJ, Cotton RG, Powell H, Dowling J, Savige J.
    Kidney Int; 2001 Aug; 60(2):480-3. PubMed ID: 11473630
    [Abstract] [Full Text] [Related]

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

  • 9. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.
    Boye E, Mollet G, Forestier L, Cohen-Solal L, Heidet L, Cochat P, Grünfeld JP, Palcoux JB, Gubler MC, Antignac C.
    Am J Hum Genet; 1998 Nov; 63(5):1329-40. PubMed ID: 9792860
    [Abstract] [Full Text] [Related]

  • 10. Autosomal recessive Alport's syndrome and benign familial hematuria are collagen type IV diseases.
    Tazón Vega B, Badenas C, Ars E, Lens X, Milà M, Darnell A, Torra R.
    Am J Kidney Dis; 2003 Nov; 42(5):952-9. PubMed ID: 14582039
    [Abstract] [Full Text] [Related]

  • 11. A COL4A3 gene mutation and post-transplant anti-alpha 3(IV) collagen alloantibodies in Alport syndrome.
    Kalluri R, van den Heuvel LP, Smeets HJ, Schroder CH, Lemmink HH, Boutaud A, Neilson EG, Hudson BG.
    Kidney Int; 1995 Apr; 47(4):1199-204. PubMed ID: 7783419
    [Abstract] [Full Text] [Related]

  • 12. Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
    Nagel M, Nagorka S, Gross O.
    Hum Mutat; 2005 Jul; 26(1):60. PubMed ID: 15954103
    [Abstract] [Full Text] [Related]

  • 13. A novel mutation of COL4A3 presents a different contribution to Alport syndrome and thin basement membrane nephropathy.
    Hou P, Chen Y, Ding J, Li G, Zhang H.
    Am J Nephrol; 2007 Jul; 27(5):538-44. PubMed ID: 17726307
    [Abstract] [Full Text] [Related]

  • 14. Autosomal recessive Alport syndrome: mutation in the COL4A3 gene in a woman with Alport syndrome and posttransplant antiglomerular basement membrane nephritis.
    Ding J, Stitzel J, Berry P, Hawkins E, Kashtan CE.
    J Am Soc Nephrol; 1995 Mar; 5(9):1714-7. PubMed ID: 7780062
    [Abstract] [Full Text] [Related]

  • 15. Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria.
    Slajpah M, Gorinsek B, Berginc G, Vizjak A, Ferluga D, Hvala A, Meglic A, Jaksa I, Furlan P, Gregoric A, Kaplan-Pavlovcic S, Ravnik-Glavac M, Glavac D.
    Kidney Int; 2007 Jun; 71(12):1287-95. PubMed ID: 17396119
    [Abstract] [Full Text] [Related]

  • 16. Genotype-phenotype correlations in 17 Chinese patients with autosomal recessive Alport syndrome.
    Zhang Y, Wang F, Ding J, Zhang H, Zhao D, Yu L, Xiao H, Yao Y, Zhong X, Wang S.
    Am J Med Genet A; 2012 Sep; 158A(9):2188-93. PubMed ID: 22887978
    [Abstract] [Full Text] [Related]

  • 17. Autosomal-dominant Alport syndrome: natural history of a disease due to COL4A3 or COL4A4 gene.
    Pescucci C, Mari F, Longo I, Vogiatzi P, Caselli R, Scala E, Abaterusso C, Gusmano R, Seri M, Miglietti N, Bresin E, Renieri A.
    Kidney Int; 2004 May; 65(5):1598-603. PubMed ID: 15086897
    [Abstract] [Full Text] [Related]

  • 18. A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population.
    Webb BD, Brandt T, Liu L, Jalas C, Liao J, Fedick A, Linderman MD, Diaz GA, Kornreich R, Trachtman H, Mehta L, Edelmann L.
    Clin Genet; 2014 Aug; 86(2):155-60. PubMed ID: 23927549
    [Abstract] [Full Text] [Related]

  • 19. 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 Aug; 11(9):e0161802. PubMed ID: 27627812
    [Abstract] [Full Text] [Related]

  • 20. Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family.
    Guo L, Li D, Dong S, Wan D, Yang B, Huang Y.
    J Genet; 2017 Jun; 96(2):389-392. PubMed ID: 28674241
    [Abstract] [Full Text] [Related]

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