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 *

340 related articles for article (PubMed ID: 12105244)

  • 1. Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.
    Gross O; Netzer KO; Lambrecht R; Seibold S; Weber M
    Nephrol Dial Transplant; 2002 Jul; 17(7):1218-27. PubMed ID: 12105244
    [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: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.
    Jais JP; Knebelmann B; Giatras I; De Marchi M; Rizzoni G; Renieri A; Weber M; Gross O; Netzer KO; Flinter F; Pirson Y; Dahan K; Wieslander J; Persson U; Tryggvason K; Martin P; Hertz JM; Schröder C; Sanak M; Carvalho MF; Saus J; Antignac C; Smeets H; Gubler MC
    J Am Soc Nephrol; 2003 Oct; 14(10):2603-10. PubMed ID: 14514738
    [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. X-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
    Jais JP; Knebelmann B; Giatras I; Marchi M; Rizzoni G; Renieri A; Weber M; Gross O; Netzer KO; Flinter F; Pirson Y; Verellen C; Wieslander J; Persson U; Tryggvason K; Martin P; Hertz JM; Schröder C; Sanak M; Krejcova S; Carvalho MF; Saus J; Antignac C; Smeets H; Gubler MC
    J Am Soc Nephrol; 2000 Apr; 11(4):649-657. PubMed ID: 10752524
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. The use of frailty models in genetic studies: application to the relationship between end-stage renal failure and mutation type in Alport syndrome. European Community Alport Syndrome Concerted Action Group (ECASCA).
    Albert I; Jais JP
    J Epidemiol Biostat; 2000; 5(3):169-75. PubMed ID: 11051113
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Familial hematuria: A review.
    Plevová P; Gut J; Janda J
    Medicina (Kaunas); 2017; 53(1):1-10. PubMed ID: 28236514
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Alport syndrome in southern Sweden.
    Persson U; Hertz JM; Wieslander J; Segelmark M
    Clin Nephrol; 2005 Aug; 64(2):85-90. PubMed ID: 16114783
    [TBL] [Abstract][Full Text] [Related]  

  • 18. X-linked Alport syndrome in Hellenic families: phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5.
    Demosthenous P; Voskarides K; Stylianou K; Hadjigavriel M; Arsali M; Patsias C; Georgaki E; Zirogiannis P; Stavrou C; Daphnis E; Pierides A; Deltas C;
    Clin Genet; 2012 Mar; 81(3):240-8. PubMed ID: 21332469
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 17.