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 *

137 related articles for article (PubMed ID: 8455372)

  • 21. 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]  

  • 22. Common ancestry of three Ashkenazi-American families with Alport syndrome and COL4A5 R1677Q.
    Barker DF; Denison JC; Atkin CL; Gregory MC
    Hum Genet; 1997 May; 99(5):681-4. PubMed ID: 9150741
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. An 8 bp deletion in exon 51 of the COL4A5 gene of an Alport syndrome patient.
    Boye E; Flinter FA; Bobrow M; Harris A
    Hum Mol Genet; 1993 May; 2(5):595-6. PubMed ID: 8518800
    [No Abstract]   [Full Text] [Related]  

  • 25. Mutations in the COL4A5 gene in Alport syndrome: a possible mutation in primordial germ cells.
    Nakazato H; Hattori S; Ushijima T; Matsuura T; Koitabashi Y; Takada T; Yoshioka K; Endo F; Matsuda I
    Kidney Int; 1994 Nov; 46(5):1307-14. PubMed ID: 7853788
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. Identification of a single base insertion in the COL4A5 gene in Alport syndrome.
    Nakazato H; Hattori S; Matsuura T; Koitabashi Y; Endo F; Matsuda I
    Kidney Int; 1993 Nov; 44(5):1091-6. PubMed ID: 8264140
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Different mutations in the COL4A5 collagen gene in two patients with different features of Alport syndrome.
    Smeets HJ; Melenhorst JJ; Lemmink HH; Schröder CH; Nelen MR; Zhou J; Hostikka SL; Tryggvason K; Ropers HH; Jansweijer MC
    Kidney Int; 1992 Jul; 42(1):83-8. PubMed ID: 1635357
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. 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]  

  • 33. [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]  

  • 34. 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]  

  • 35. Deletions of the COL4A5 gene in patients with Alport syndrome.
    Netzer KO; Renders L; Zhou J; Pullig O; Tryggvason K; Weber M
    Kidney Int; 1992 Dec; 42(6):1336-44. PubMed ID: 1474765
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. 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]  

  • 38. 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]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 7.