BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

193 related articles for article (PubMed ID: 11961405)

  • 1. A new point mutation in the COL4A5 gene described in a Spanish family with X-linked Alport syndrome.
    Palenzuela L; Callís L; Vilalta R; Vila A; Nieto JL; Meseguer A
    Nephron; 2002 Apr; 90(4):455-9. PubMed ID: 11961405
    [TBL] [Abstract][Full Text] [Related]  

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

  • 3. X-linked Alport syndrome associated with a synonymous p.Gly292Gly mutation alters the splicing donor site of the type IV collagen alpha chain 5 gene.
    Fu XJ; Nozu K; Eguchi A; Nozu Y; Morisada N; Shono A; Taniguchi-Ikeda M; Shima Y; Nakanishi K; Vorechovsky I; Iijima K
    Clin Exp Nephrol; 2016 Oct; 20(5):699-702. PubMed ID: 26581810
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.
    Baikara BT; Zholdybayeva EV; Rakhimova SE; Nigmatullina NB; Momynaliev KT; Ramanculov YM
    PLoS One; 2015; 10(7):e0132010. PubMed ID: 26168235
    [TBL] [Abstract][Full Text] [Related]  

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

  • 6. 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]  

  • 7. A novel G472R mutation in a Turkish family with X-linked Alport syndrome.
    Topaloglu R; Plant KE; Flinter F
    Pediatr Nephrol; 2000 Jun; 14(6):480-1. PubMed ID: 10872188
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Prenatal diagnosis and genetic counseling of X-linked Alport syndrome in China].
    Zhang HW; Ding J; Wang F; Yang HX
    Zhonghua Er Ke Za Zhi; 2007 Jul; 45(7):484-9. PubMed ID: 17953801
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndrome.
    Krol RP; Nozu K; Nakanishi K; Iijima K; Takeshima Y; Fu XJ; Nozu Y; Kaito H; Kanda K; Matsuo M; Yoshikawa N
    Nephrol Dial Transplant; 2008 Aug; 23(8):2525-30. PubMed ID: 18332068
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Detection of a novel mutation in COL4A5 gene from a Chinese family with X-linked alport syndrome].
    Peng CL; Liang H; Z ou QL; Wang J; Liu CS; Zhang XF; Chen J; Hu SN
    Yi Chuan Xue Bao; 2004 Nov; 31(11):1190-5. PubMed ID: 15651669
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A large tandem duplication within the COL4A5 gene is responsible for the high prevalence of Alport syndrome in French Polynesia.
    Arrondel C; Deschênes G; Le Meur Y; Viau A; Cordonnier C; Fournier A; Amadeo S; Gubler MC; Antignac C; Heidet L
    Kidney Int; 2004 Jun; 65(6):2030-40. PubMed ID: 15149316
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Detection of mutations in the COL4A5 gene by analyzing cDNA of skin fibroblasts.
    Wang F; Wang Y; Ding J; Yang J
    Kidney Int; 2005 Apr; 67(4):1268-74. PubMed ID: 15780079
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene.
    Cervera-Acedo C; Coloma A; Huarte-Loza E; Sierra-Carpio M; Domínguez-Garrido E
    BMC Nephrol; 2017 Oct; 18(1):325. PubMed ID: 29089023
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [X-linked thin basement membrane nephropathy was linked with COL4A5 gene].
    Zhang C; Zhu S; Zhang Y
    Zhonghua Yi Xue Za Zhi; 2000 Aug; 80(8):582-4. PubMed ID: 11798821
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.