These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

146 related items for PubMed ID: 16114791

  • 1. 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; 64(2):144-50. PubMed ID: 16114791
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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 15; 62(7):733-735. PubMed ID: 28275241
    [Abstract] [Full Text] [Related]

  • 6.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. 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 15; 22(5):419. PubMed ID: 14517961
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 4(3):195-8. PubMed ID: 7833948
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 4(1):99-108. PubMed ID: 7711741
    [Abstract] [Full Text] [Related]

  • 11. Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis.
    Zhang X, Zhou J, Reeders ST, Tryggvason K.
    Genomics; 1996 May 01; 33(3):473-9. PubMed ID: 8661006
    [Abstract] [Full Text] [Related]

  • 12. Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization.
    Heidet L, Cai Y, Sado Y, Ninomiya Y, Thorner P, Guicharnaud L, Boye E, Chauvet V, Solal LC, Beziau A, Torres RG, Antignac C, Gubler MC.
    Lab Invest; 1997 Feb 01; 76(2):233-43. PubMed ID: 9042160
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 30(1):3-8. PubMed ID: 20951201
    [Abstract] [Full Text] [Related]

  • 14. 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 01; 154(6):1883-91. PubMed ID: 10362815
    [Abstract] [Full Text] [Related]

  • 15. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 01; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 16. Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis.
    Garcia-Torres R, Cruz D, Orozco L, Heidet L, Gubler MC.
    Nephrologie; 2000 Aug 01; 21(1):9-12. PubMed ID: 10730274
    [Abstract] [Full Text] [Related]

  • 17. Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.
    Liu W, Wong JK, He Q, Wong EH, Tang CS, Zhang R, So MT, Wong KK, Nicholls J, Cherny SS, Sham PC, Tam PK, Garcia-Barcelo MM, Xia H.
    BMC Med Genet; 2015 Jul 16; 16():49. PubMed ID: 26179878
    [Abstract] [Full Text] [Related]

  • 18. Major COL4A5 gene rearrangements in patients with juvenile type Alport syndrome.
    Renieri A, Galli L, Grillo A, Bruttini M, Neri T, Zanelli P, Rizzoni G, Massella L, Sessa A, Meroni M, Peratoner L, Riegler P, Scolari F, Mileti M, Giani M, Cossu M, Savi M, Ballabio A, De Marchi M.
    Am J Med Genet; 1995 Nov 20; 59(3):380-5. PubMed ID: 8599366
    [Abstract] [Full Text] [Related]

  • 19. 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 20; 48(6):1900-6. PubMed ID: 8587250
    [Abstract] [Full Text] [Related]

  • 20. 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 20; 26(5):717-24. PubMed ID: 21380622
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.