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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

195 related articles for article (PubMed ID: 9848783)

  • 1. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.
    Martin P; Heiskari N; Zhou J; Leinonen A; Tumelius T; Hertz JM; Barker D; Gregory M; Atkin C; Styrkarsdottir U; Neumann H; Springate J; Shows T; Pettersson E; Tryggvason K
    J Am Soc Nephrol; 1998 Dec; 9(12):2291-301. PubMed ID: 9848783
    [TBL] [Abstract][Full Text] [Related]  

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

  • 3. 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; 59(3):380-5. PubMed ID: 8599366
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome.
    Nagel M; Nagorka S; Gross O
    Hum Mutat; 2005 Jul; 26(1):60. PubMed ID: 15954103
    [TBL] [Abstract][Full Text] [Related]  

  • 7. X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.
    Renieri A; Bruttini M; Galli L; Zanelli P; Neri T; Rossetti S; Turco A; Heiskari N; Zhou J; Gusmano R; Massella L; Banfi G; Scolari F; Sessa A; Rizzoni G; Tryggvason K; Pignatti PF; Savi M; Ballabio A; De Marchi M
    Am J Hum Genet; 1996 Jun; 58(6):1192-204. PubMed ID: 8651296
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spectrum of mutations in the COL4A5 collagen gene in X-linked Alport syndrome.
    Knebelmann B; Breillat C; Forestier L; Arrondel C; Jacassier D; Giatras I; Drouot L; Deschênes G; Grünfeld JP; Broyer M; Gubler MC; Antignac C
    Am J Hum Genet; 1996 Dec; 59(6):1221-32. PubMed ID: 8940267
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Missense mutations in the COL4A5 gene in patients with X-linked Alport syndrome.
    Neri TM; Zanelli P; De Palma G; Savi M; Rossetti S; Turco AE; Pignatti GF; Galli L; Bruttini M; Renieri A; Mingarelli R; Trivelli A; Pinciaroli AR; Ragaiolo M; Rizzoni GF; De Marchi M
    Hum Mutat; 1998; Suppl 1():S106-9. PubMed ID: 9452056
    [No Abstract]   [Full Text] [Related]  

  • 10. Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
    Martin P; Heiskari N; Pajari H; Grönhagen-Riska C; Kääriäinen H; Koskimies O; Tryggvason K
    Hum Mutat; 2000 Jun; 15(6):579. PubMed ID: 10862091
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Aberrant splicing of the COL4A5 gene in patients with Alport syndrome.
    Lemmink HH; Kluijtmans LA; Brunner HG; Schröder CH; Knebelmann B; Jelínková E; van Oost BA; Monnens LA; Smeets HJ
    Hum Mol Genet; 1994 Feb; 3(2):317-22. PubMed ID: 8004101
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 33(3):473-9. PubMed ID: 8661006
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Severe alport phenotype in a woman with two missense mutations in the same COL4A5 gene and preponderant inactivation of the X chromosome carrying the normal allele.
    Guo C; Van Damme B; Vanrenterghem Y; Devriendt K; Cassiman JJ; Marynen P
    J Clin Invest; 1995 Apr; 95(4):1832-7. PubMed ID: 7706490
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [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; 49(5):760-767. PubMed ID: 29045953
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.
    Boye E; Mollet G; Forestier L; Cohen-Solal L; Heidet L; Cochat P; Grünfeld JP; Palcoux JB; Gubler MC; Antignac C
    Am J Hum Genet; 1998 Nov; 63(5):1329-40. PubMed ID: 9792860
    [TBL] [Abstract][Full Text] [Related]  

  • 16. X-linked Alport syndrome caused by splicing mutations in COL4A5.
    Nozu K; Vorechovsky I; Kaito H; Fu XJ; Nakanishi K; Hashimura Y; Hashimoto F; Kamei K; Ito S; Kaku Y; Imasawa T; Ushijima K; Shimizu J; Makita Y; Konomoto T; Yoshikawa N; Iijima K
    Clin J Am Soc Nephrol; 2014 Nov; 9(11):1958-64. PubMed ID: 25183659
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.
    Heidet L; Arrondel C; Forestier L; Cohen-Solal L; Mollet G; Gutierrez B; Stavrou C; Gubler MC; Antignac C
    J Am Soc Nephrol; 2001 Jan; 12(1):97-106. PubMed ID: 11134255
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Structure of the human type IV collagen COL4A5 gene.
    Zhou J; Leinonen A; Tryggvason K
    J Biol Chem; 1994 Mar; 269(9):6608-14. PubMed ID: 8120014
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.
    Liu JH; Wei XX; Li A; Cui YX; Xia XY; Qin WS; Zhang MC; Gao EZ; Sun J; Gao CL; Liu FX; Wu QY; Li WW; Asan ; Liu ZH; Li XJ
    PLoS One; 2017; 12(5):e0177685. PubMed ID: 28542346
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Detection of mutations in COL4A5 in patients with Alport syndrome.
    Plant KE; Green PM; Vetrie D; Flinter FA
    Hum Mutat; 1999; 13(2):124-32. PubMed ID: 10094548
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.