BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

226 related articles for article (PubMed ID: 12436246)

  • 1. Unusual deep intronic mutations in the COL4A5 gene cause X linked Alport syndrome.
    King K; Flinter FA; Nihalani V; Green PM
    Hum Genet; 2002 Dec; 111(6):548-54. PubMed ID: 12436246
    [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. 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]  

  • 4. A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome.
    King K; Flinter FA; Green PM
    Hum Mutat; 2006 Oct; 27(10):1061. PubMed ID: 16941480
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Detection of 12 novel mutations in the collagenous domain of the COL4A5 gene in Alport syndrome patients.
    Boye E; Flinter F; Zhou J; Tryggvason K; Bobrow M; Harris A
    Hum Mutat; 1995; 5(3):197-204. PubMed ID: 7599631
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.
    Mukhopadhyay A; Nikopoulos K; Maugeri A; de Brouwer AP; van Nouhuys CE; Boon CJ; Perveen R; Zegers HA; Wittebol-Post D; van den Biesen PR; van der Velde-Visser SD; Brunner HG; Black GC; Hoyng CB; Cremers FP
    Invest Ophthalmol Vis Sci; 2006 Aug; 47(8):3565-72. PubMed ID: 16877430
    [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 COL4A5 gene mutations in Chinese patients with Alport's syndrome.
    Pan X; Yan J; Ren H; Zhang W; Shi H; Yu H; Wang C; Hao C; Chen X; Chen N
    Nephrol Dial Transplant; 2004 May; 19(5):1123-8. PubMed ID: 14993485
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing.
    Inoue Y; Nishio H; Shirakawa T; Nakanishi K; Nakamura H; Sumino K; Nishiyama K; Iijima K; Yoshikawa N
    Am J Kidney Dis; 1999 Nov; 34(5):854-62. PubMed ID: 10561141
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred.
    Williams CJ; Ganguly A; Considine E; McCarron S; Prockop DJ; Walsh-Vockley C; Michels VV
    Am J Med Genet; 1996 Jun; 63(3):461-7. PubMed ID: 8737653
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Genetic testing for X-linked Alport syndrome by direct sequencing of COL4A5 cDNA from hair root RNA samples.
    Tazón-Vega B; Ars E; Burset M; Santín S; Ruíz P; Fernández-Llama P; Ballarín J; Torra R
    Am J Kidney Dis; 2007 Aug; 50(2):257.e1-14. PubMed ID: 17660027
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel frameshift deletion in type IV collagen alpha 5 gene in a juvenile-type Alport syndrome patient: an adenine deletion (2940/2943 del A) in exon 34 of COL4A5.
    Peissel B; Rossetti S; Renieri A; Galli L; De Marchi M; Battini G; Meroni M; Sessa A; Schiavano S; Pignatti PF
    Hum Mutat; 1994; 3(4):386-90. PubMed ID: 8081393
    [No Abstract]   [Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. In vitro splicing analysis showed that availability of a cryptic splice site is not a determinant for alternative splicing patterns caused by +1G-->A mutations in introns of the dystrophin gene.
    Habara Y; Takeshima Y; Awano H; Okizuka Y; Zhang Z; Saiki K; Yagi M; Matsuo M
    J Med Genet; 2009 Aug; 46(8):542-7. PubMed ID: 19001018
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.