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Journal Abstract Search

683 related items for PubMed ID: 11473630

  • 21. Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
    Longo I, Scala E, Mari F, Caselli R, Pescucci C, Mencarelli MA, Speciale C, Giani M, Bresin E, Caringella DA, Borochowitz ZU, Siriwardena K, Winship I, Renieri A, Meloni I.
    Nephrol Dial Transplant; 2006 Mar; 21(3):665-71. PubMed ID: 16338941
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  • 22. 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
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  • 23. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
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  • 25. 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; 31(6):941-55. PubMed ID: 26809805
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  • 29. Novel heterozygous COL4A3 mutation in a family with late-onset ESRD.
    Hoefele J, Lange-Sperandio B, Ruessmann D, Glöckner-Pagel J, Alberer M, Benz MR, Nagel M, Weber LT.
    Pediatr Nephrol; 2010 Aug; 25(8):1539-42. PubMed ID: 20177710
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  • 30. Digenic Alport Syndrome.
    Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT.
    Clin J Am Soc Nephrol; 2022 Nov; 17(11):1697-1706. PubMed ID: 35675912
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  • 31. Novel COL4A4 splice defect and in-frame deletion in a large consanguine family as a genetic link between benign familial haematuria and autosomal Alport syndrome.
    Gross O, Netzer KO, Lambrecht R, Seibold S, Weber M.
    Nephrol Dial Transplant; 2003 Jun; 18(6):1122-7. PubMed ID: 12748344
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  • 34. Possible Digenic Disease in a Caucasian Family with COL4A3 and COL4A5 Mutations.
    Choi M, Anistan YM, Eckardt KU, Gollasch M, Nickel P.
    Nephron; 2019 Jun; 141(3):213-218. PubMed ID: 30661074
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  • 38. 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; 7(5):e647. PubMed ID: 30883042
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  • 39. Genetic, Clinical, and Pathologic Backgrounds of Patients with Autosomal Dominant Alport Syndrome.
    Kamiyoshi N, Nozu K, Fu XJ, Morisada N, Nozu Y, Ye MJ, Imafuku A, Miura K, Yamamura T, Minamikawa S, Shono A, Ninchoji T, Morioka I, Nakanishi K, Yoshikawa N, Kaito H, Iijima K.
    Clin J Am Soc Nephrol; 2016 Aug 08; 11(8):1441-1449. PubMed ID: 27281700
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  • 40. The clinical spectrum of type IV collagen mutations.
    Lemmink HH, Schröder CH, Monnens LA, Smeets HJ.
    Hum Mutat; 1997 Aug 08; 9(6):477-99. PubMed ID: 9195222
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