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 *

101 related articles for article (PubMed ID: 8887300)

  • 1. Use of psoralen-coupled nucleotide primers for screening of COL4A5 mutations in Alport syndrome.
    Netzer KO; Seibold S; Gross O; Lambrecht R; Weber M
    Kidney Int; 1996 Oct; 50(4):1363-7. PubMed ID: 8887300
    [No Abstract]   [Full Text] [Related]  

  • 2. 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; 3(1):201-2. PubMed ID: 8162029
    [No Abstract]   [Full Text] [Related]  

  • 3. 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]  

  • 4. A nonsense mutation in the COL4A5 collagen gene in a family with X-linked juvenile Alport syndrome.
    Hertz JM; Heiskari N; Zhou J; Jensen UB; Tryggvason K
    Kidney Int; 1995 Jan; 47(1):327-32. PubMed ID: 7731166
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 98(2):148-60. PubMed ID: 11223851
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Unequal homologous crossing over resulting in duplication of 36 base pairs within exon 47 of the COL4A5 gene in a family with Alport syndrome.
    Hämäläinen ER; Renieri A; Pecoraro C; De Marchi M; Pihlajaniemi T
    Hum Mutat; 1996; 8(3):265-9. PubMed ID: 8889587
    [No Abstract]   [Full Text] [Related]  

  • 8. Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome.
    Lemmink HH; Schröder CH; Brunner HG; Nelen MR; Zhou J; Tryggvason K; Haagsma-Schouten WA; Roodvoets AP; Rascher W; van Oost BA
    Genomics; 1993 Aug; 17(2):485-9. PubMed ID: 8406498
    [TBL] [Abstract][Full Text] [Related]  

  • 9. De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.
    Renieri A; Seri M; Myers JC; Pihlajaniemi T; Massella L; Rizzoni G; De Marchi M
    Hum Mol Genet; 1992 May; 1(2):127-9. PubMed ID: 1363780
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. COL4A5 splice site mutation and alpha 5(IV) collagen mRNA in Alport syndrome.
    Netzer KO; Pullig O; Frei U; Zhou J; Tryggvason K; Weber M
    Kidney Int; 1993 Feb; 43(2):486-92. PubMed ID: 8441246
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Substitution of A1498D in noncollagen domain of a5(IV) collagen chain associated with adult-onset X-linked Alport syndrome.
    Tverskaya S; Bobrynina V; Tsalykova F; Ignatova M; Krasnopolskaya X; Evgrafov O
    Hum Mutat; 1996; 7(2):149-50. PubMed ID: 8829632
    [No Abstract]   [Full Text] [Related]  

  • 13. 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; 4(1):99-108. PubMed ID: 7711741
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. The COL4A5 gene in Japanese Alport syndrome patients: spectrum of mutations of all exons. The Japanese Alport Network.
    Kawai S; Nomura S; Harano T; Harano K; Fukushima T; Osawa G
    Kidney Int; 1996 Mar; 49(3):814-22. PubMed ID: 8648925
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome.
    Zhou J; Gregory MC; Hertz JM; Barker DF; Atkin C; Spencer ES; Tryggvason K
    Kidney Int; 1993 Mar; 43(3):722-9. PubMed ID: 8455372
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene.
    Blasi MA; Rinaldi R; Renieri A; Petrucci R; De Bernardo C; Bruttini M; Grammatico P
    Am J Ophthalmol; 2000 Jul; 130(1):130-1. PubMed ID: 11004279
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 248(4960):1224-7. PubMed ID: 2349482
    [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 6.