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Journal Abstract Search

111 related items for PubMed ID: 9465897

  • 21. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.
    Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, de Paepe A, Tryggvason K, Reeders ST.
    Science; 1993 Aug 27; 261(5125):1167-9. PubMed ID: 8356449
    [Abstract] [Full Text] [Related]

  • 22. [Diffuse leiomyomatosis with genital involvement and Alport syndrome. Report of two cases].
    Le Bras A, David A, Knipping M, Mensier A, Heidet L, Lopes P.
    J Gynecol Obstet Biol Reprod (Paris); 1998 Sep 27; 27(5):523-8. PubMed ID: 9791580
    [Abstract] [Full Text] [Related]

  • 23. LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.
    Segal Y, Peissel B, Renieri A, de Marchi M, Ballabio A, Pei Y, Zhou J.
    Am J Hum Genet; 1999 Jan 27; 64(1):62-9. PubMed ID: 9915944
    [Abstract] [Full Text] [Related]

  • 24. 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 27; 76(2):233-43. PubMed ID: 9042160
    [Abstract] [Full Text] [Related]

  • 25. Organization and expression of basement membrane collagen IV genes and their roles in human disorders.
    Sado Y, Kagawa M, Naito I, Ueki Y, Seki T, Momota R, Oohashi T, Ninomiya Y.
    J Biochem; 1998 May 27; 123(5):767-76. PubMed ID: 9562604
    [Abstract] [Full Text] [Related]

  • 26. 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]

  • 27. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 16; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 28. 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 16; 7(5):702-9. PubMed ID: 8738805
    [Abstract] [Full Text] [Related]

  • 29. The clinical spectrum of type IV collagen mutations.
    Lemmink HH, Schröder CH, Monnens LA, Smeets HJ.
    Hum Mutat; 1997 May 16; 9(6):477-99. PubMed ID: 9195222
    [Abstract] [Full Text] [Related]

  • 30. Identification of mutations in the COL4A5 collagen gene in Alport syndrome.
    Barker DF, Hostikka SL, Zhou J, Chow LT, Oliphant AR, Gerken SC, Gregory MC, Skolnick MH, Atkin CL, Tryggvason K.
    Science; 1990 Jun 08; 248(4960):1224-7. PubMed ID: 2349482
    [Abstract] [Full Text] [Related]

  • 31. Clinical and molecular diagnosis of Alport syndrome.
    Kashtan CE.
    Proc Assoc Am Physicians; 1995 Oct 08; 107(3):306-13. PubMed ID: 8608415
    [Abstract] [Full Text] [Related]

  • 32. Alport-leiomyomatosis syndrome: an update.
    García-Torres R, Orozco L.
    Am J Kidney Dis; 1993 Nov 08; 22(5):641-8. PubMed ID: 8238008
    [Abstract] [Full Text] [Related]

  • 33. Alport syndrome and diffuse leiomyomatosis with major morbid events presenting at adult age.
    Van Loo A, Vanholder R, Buytaert I, De Paepe A, Praet M, Elewaut A, Lameire N.
    Nephrol Dial Transplant; 1997 Apr 08; 12(4):776-80. PubMed ID: 9141011
    [No Abstract] [Full Text] [Related]

  • 34. 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 08; 93(3):1195-207. PubMed ID: 8132760
    [Abstract] [Full Text] [Related]

  • 35. Mutations in Alport syndrome associated with diffuse esophageal leiomyomatosis.
    Antignac C, Heidet L.
    Contrib Nephrol; 1996 Mar 08; 117():172-82. PubMed ID: 8801045
    [No Abstract] [Full Text] [Related]

  • 36. Characterization of the 3' half of the human type IV collagen alpha 5 gene that is affected in the Alport syndrome.
    Zhou J, Hostikka SL, Chow LT, Tryggvason K.
    Genomics; 1991 Jan 08; 9(1):1-9. PubMed ID: 2004755
    [Abstract] [Full Text] [Related]

  • 37. Diffuse esophageal leiomyomatosis with perirectal involvement mimicking Hirschsprung disease.
    Guillem P, Delcambre F, Cohen-Solal L, Triboulet JP, Antignac C, Heidet L, Quandalle P.
    Gastroenterology; 2001 Jan 08; 120(1):216-20. PubMed ID: 11208731
    [Abstract] [Full Text] [Related]

  • 38. Single base pair deletions in exons 39 and 42 of the COL4A5 gene in Alport syndrome.
    Renieri A, Galli L, De Marchi M, Li Volti S, Mollica F, Lupo A, Maschio G, Peissel B, Rossetti S, Pignatti P.
    Hum Mol Genet; 1994 Jan 08; 3(1):201-2. PubMed ID: 8162029
    [No Abstract] [Full Text] [Related]

  • 39. Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP.
    Barker DF, Denison JC, Atkin CL, Gregory MC.
    Am J Med Genet; 2001 Jan 15; 98(2):148-60. PubMed ID: 11223851
    [Abstract] [Full Text] [Related]

  • 40. Alport syndrome with diffuse leiomyomatosis. When and when not?
    Miner JH.
    Am J Pathol; 1999 Jun 15; 154(6):1633-5. PubMed ID: 10362786
    [No Abstract] [Full Text] [Related]

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