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 *

266 related articles for article (PubMed ID: 8940267)

  • 1. 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]  

  • 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. 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]  

  • 5. 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]  

  • 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. 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]  

  • 8. 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]  

  • 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. Relationship between COL4A5 gene mutation and distribution of type IV collagen in male X-linked Alport syndrome. Japanese Alport Network.
    Naito I; Kawai S; Nomura S; Sado Y; Osawa G
    Kidney Int; 1996 Jul; 50(1):304-11. PubMed ID: 8807602
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Glomerular expression of type IV collagen chains in normal and X-linked Alport syndrome kidneys.
    Heidet L; Cai Y; Guicharnaud L; Antignac C; Gubler MC
    Am J Pathol; 2000 Jun; 156(6):1901-10. PubMed ID: 10854213
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Comparison of alpha5(IV) collagen chain expression in skin with disease severity in women with X-linked Alport syndrome.
    Nakanishi K; Iijima K; Kuroda N; Inoue Y; Sado Y; Nakamura H; Yoshikawa N
    J Am Soc Nephrol; 1998 Aug; 9(8):1433-40. PubMed ID: 9697665
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A single-base mutation in exon 31 converting glycine 852 to arginine in the collagenous domain in an Alport syndrome patient.
    Kawai S; Nomura S; Harano T; Harano K; Fukushima T; Wago M; Shimizu B; Osawa G
    Nephron; 1996; 74(2):333-6. PubMed ID: 8893151
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype Correlations.
    Savige J; Storey H; Il Cheong H; Gyung Kang H; Park E; Hilbert P; Persikov A; Torres-Fernandez C; Ars E; Torra R; Hertz JM; Thomassen M; Shagam L; Wang D; Wang Y; Flinter F; Nagel M
    PLoS One; 2016; 11(9):e0161802. PubMed ID: 27627812
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Autosomal dominant Alport syndrome linked to the type IV collage alpha 3 and alpha 4 genes (COL4A3 and COL4A4).
    Jefferson JA; Lemmink HH; Hughes AE; Hill CM; Smeets HJ; Doherty CC; Maxwell AP
    Nephrol Dial Transplant; 1997 Aug; 12(8):1595-9. PubMed ID: 9269635
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.