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Journal Abstract Search

301 related items for PubMed ID: 29045953

  • 21. Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome.
    Heiskari N, Zhang X, Zhou J, Leinonen A, Barker D, Gregory M, Atkin CL, Netzer KO, Weber M, Reeders S, Grönhagen-Riska C, Neumann HP, Trembath R, Tryggvason K.
    J Am Soc Nephrol; 1996 May; 7(5):702-9. PubMed ID: 8738805
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  • 22. Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.
    Dahan K, Heidet L, Zhou J, Mettler G, Leppig KA, Proesmans W, David A, Roussel B, Mongeau JG, Gould JM.
    Kidney Int; 1995 Dec; 48(6):1900-6. PubMed ID: 8587250
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  • 23. 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; 32(6):997-1003. PubMed ID: 28013382
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  • 24. Milder clinical aspects of X-linked Alport syndrome in men positive for the collagen IV α5 chain.
    Hashimura Y, Nozu K, Kaito H, Nakanishi K, Fu XJ, Ohtsubo H, Hashimoto F, Oka M, Ninchoji T, Ishimori S, Morisada N, Matsunoshita N, Kamiyoshi N, Yoshikawa N, Iijima K.
    Kidney Int; 2014 May; 85(5):1208-13. PubMed ID: 24304881
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  • 25. Deletion spanning the 5' ends of both the COL4A5 and COL4A6 genes in a patient with Alport's syndrome and leiomyomatosis.
    Renieri A, Bassi MT, Galli L, Zhou J, Giani M, De Marchi M, Ballabio A.
    Hum Mutat; 1994 May; 4(3):195-8. PubMed ID: 7833948
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  • 30. Alport syndrome caused by inversion of a 21 Mb fragment of the long arm of the X-chromosome comprising exon 9 through 51 of the COL4A5 gene.
    Hertz JM, Persson U, Juncker I, Segelmark M.
    Hum Genet; 2005 Oct; 118(1):23-8. PubMed ID: 16133187
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  • 34. Severe Alport syndrome in a young woman caused by a t(X;1)(q22.3;p36.32) balanced translocation.
    Iijima K, Nozu K, Kamei K, Nakayama M, Ito S, Matsuoka K, Ogata T, Kaito H, Nakanishi K, Matsuo M.
    Pediatr Nephrol; 2010 Oct; 25(10):2165-70. PubMed ID: 20386926
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  • 35. Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression.
    Antignac C, Knebelmann B, Drouot L, Gros F, Deschênes G, Hors-Cayla MC, Zhou J, Tryggvason K, Grünfeld JP, Broyer M.
    J Clin Invest; 1994 Mar; 93(3):1195-207. PubMed ID: 8132760
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  • 36. COL4A5 splice site mutation and alpha 5(IV) collagen mRNA in Alport syndrome.
    Netzer KO, Pullig O, Frei U, Zhou J, Tryggvason K, Weber M.
    Kidney Int; 1993 Feb; 43(2):486-92. PubMed ID: 8441246
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  • 37. 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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  • 40. Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.
    Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N.
    Hum Mutat; 2001 Aug; 18(2):141-8. PubMed ID: 11462238
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