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Journal Abstract Search

111 related items for PubMed ID: 9465897

  • 1. Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.
    Heidet L, Cohen-Solal L, Boye E, Thorner P, Kemper MJ, David A, Larget Piet L, Zhou J, Flinter F, Zhang X, Gubler MC, Antignac C.
    Cytogenet Cell Genet; 1997; 78(3-4):240-6. PubMed ID: 9465897
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  • 3. 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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  • 4. Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome.
    Ueki Y, Naito I, Oohashi T, Sugimoto M, Seki T, Yoshioka H, Sado Y, Sato H, Sawai T, Sasaki F, Matsuoka M, Fukuda S, Ninomiya Y.
    Am J Hum Genet; 1998 Feb; 62(2):253-61. PubMed ID: 9463311
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  • 5. Deletions of both alpha 5(IV) and alpha 6(IV) collagen genes in Alport syndrome and in Alport syndrome associated with smooth muscle tumours.
    Heidet L, Dahan K, Zhou J, Xu Z, Cochat P, Gould JD, Leppig KA, Proesmans W, Guyot C, Guillot M.
    Hum Mol Genet; 1995 Jan; 4(1):99-108. PubMed ID: 7711741
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  • 6. Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.
    Nozu K, Minamikawa S, Yamada S, Oka M, Yanagita M, Morisada N, Fujinaga S, Nagano C, Gotoh Y, Takahashi E, Morishita T, Yamamura T, Ninchoji T, Kaito H, Morioka I, Nakanishi K, Vorechovsky I, Iijima K.
    J Hum Genet; 2017 Jul; 62(7):733-735. PubMed ID: 28275241
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  • 7. Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth.
    Thielen BK, Barker DF, Nelson RD, Zhou J, Kren SM, Segal Y.
    Hum Mutat; 2003 Nov; 22(5):419. PubMed ID: 14517961
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  • 8. 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 Nov; 4(3):195-8. PubMed ID: 7833948
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  • 9. Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.
    Zhou X, Wang J, Mao J, Ye Q.
    Front Med (Lausanne); 2021 Nov; 8():766224. PubMed ID: 34778325
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  • 11. [Detection of large deletions in X linked Alport syndrome using competitive multiplex fluorescence polymerase chain reaction].
    Wang F, Zhang YQ, Ding J, Yu LX.
    Beijing Da Xue Xue Bao Yi Xue Ban; 2017 Oct 18; 49(5):760-767. PubMed ID: 29045953
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  • 13. Absence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis.
    Zheng K, Harvey S, Sado Y, Naito I, Ninomiya Y, Jacobs R, Thorner PS.
    Am J Pathol; 1999 Jun 18; 154(6):1883-91. PubMed ID: 10362815
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  • 15. Alport syndrome and leiomyomatosis: the first deletion extending beyond COL4A6 intron 2.
    Uliana V, Marcocci E, Mucciolo M, Meloni I, Izzi C, Manno C, Bruttini M, Mari F, Scolari F, Renieri A, Salviati L.
    Pediatr Nephrol; 2011 May 18; 26(5):717-24. PubMed ID: 21380622
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  • 16. Alport syndrome associated with diffuse leiomyomatosis: COL4A5-COL4A6 deletion associated with a mild form of Alport nephropathy.
    Mothes H, Heidet L, Arrondel C, Richter KK, Thiele M, Patzer L, Sado Y, Gubler MC, Antignac C, Scheele J.
    Nephrol Dial Transplant; 2002 Jan 18; 17(1):70-4. PubMed ID: 11773466
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  • 17. Alport syndrome with diffuse leiomyomatosis.
    Anker MC, Arnemann J, Neumann K, Ahrens P, Schmidt H, König R.
    Am J Med Genet A; 2003 Jun 15; 119A(3):381-5. PubMed ID: 12784310
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  • 18. Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes.
    Oohashi T, Naito I, Ueki Y, Yamatsuji T, Permpoon R, Tanaka N, Naomoto Y, Ninomiya Y.
    Matrix Biol; 2011 Jan 15; 30(1):3-8. PubMed ID: 20951201
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  • 19. Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene.
    Antignac C, Zhou J, Sanak M, Cochat P, Roussel B, Deschênes G, Gros F, Knebelmann B, Hors-Cayla MC, Tryggvason K.
    Kidney Int; 1992 Nov 15; 42(5):1178-83. PubMed ID: 1453602
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  • 20. A Japanese family with Alport syndrome associated with esophageal leiomyomatosis: genetic analysis of COL4A5 to COL4A6 and immunostaining for type IV collagen subtypes.
    Sugimoto K, Yanagida H, Yagi K, Kuwajima H, Okada M, Takemura T.
    Clin Nephrol; 2005 Aug 15; 64(2):144-50. PubMed ID: 16114791
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