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 *

152 related articles for article (PubMed ID: 21380622)

  • 21. [Application of multiplex ligation-dependent probe amplification in gene diagnosis of X-linked Alport syndrome].
    Zhang YQ; Zhao D; Yu LX; Ding J; Wang F
    Zhonghua Yi Xue Za Zhi; 2012 Oct; 92(40):2825-9. PubMed ID: 23290210
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Absence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis.
    Zheng K; Harvey S; Sado Y; Naito I; Ninomiya Y; Jacobs R; Thorner PS
    Am J Pathol; 1999 Jun; 154(6):1883-91. PubMed ID: 10362815
    [TBL] [Abstract][Full Text] [Related]  

  • 23. LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis.
    Segal Y; Peissel B; Renieri A; de Marchi M; Ballabio A; Pei Y; Zhou J
    Am J Hum Genet; 1999 Jan; 64(1):62-9. PubMed ID: 9915944
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism.
    Liu W; Wong JK; He Q; Wong EH; Tang CS; Zhang R; So MT; Wong KK; Nicholls J; Cherny SS; Sham PC; Tam PK; Garcia-Barcelo MM; Xia H
    BMC Med Genet; 2015 Jul; 16():49. PubMed ID: 26179878
    [TBL] [Abstract][Full Text] [Related]  

  • 25. [Alport syndrome: Hereditary nephropathy associated with mutations in genes coding for type IV collagen chains].
    Heidet L; Gubler MC
    Nephrol Ther; 2016 Dec; 12(7):544-551. PubMed ID: 27816395
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Smooth muscle tumors associated with X-linked Alport syndrome: carrier detection in females.
    Dahan K; Heidet L; Zhou J; Mettler G; Leppig KA; Proesmans W; David A; Roussel B; Mongeau JG; Gould JM
    Kidney Int; 1995 Dec; 48(6):1900-6. PubMed ID: 8587250
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene.
    Antignac C; Zhou J; Sanak M; Cochat P; Roussel B; Deschênes G; Gros F; Knebelmann B; Hors-Cayla MC; Tryggvason K
    Kidney Int; 1992 Nov; 42(5):1178-83. PubMed ID: 1453602
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Identification of 47 novel mutations in patients with Alport syndrome and thin basement membrane nephropathy.
    Weber S; Strasser K; Rath S; Kittke A; Beicht S; Alberer M; Lange-Sperandio B; Hoyer PF; Benz MR; Ponsel S; Weber LT; Klein HG; Hoefele J
    Pediatr Nephrol; 2016 Jun; 31(6):941-55. PubMed ID: 26809805
    [TBL] [Abstract][Full Text] [Related]  

  • 30. An unusual cause of pseudoachalasia: the Alport syndrome-diffuse leiomyomatosis association.
    Sousa RG; Figueiredo PC; Pinto-Marques P; Meira T; Novais LA; Vieira AI; Luz C; Borralho P; Freitas J
    Eur J Gastroenterol Hepatol; 2013 Nov; 25(11):1352-7. PubMed ID: 23765124
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.
    Rost S; Bach E; Neuner C; Nanda I; Dysek S; Bittner RE; Keller A; Bartsch O; Mlynski R; Haaf T; Müller CR; Kunstmann E
    Eur J Hum Genet; 2014 Feb; 22(2):208-15. PubMed ID: 23714752
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A case with somatic and germline mosaicism in COL4A5 detected by multiplex ligation-dependent probe amplification in X-linked Alport syndrome.
    Aoto Y; Kise T; Nakanishi K; Nagano C; Horinouchi T; Yamamura T; Ishiko S; Sakakibara N; Shima Y; Morisada N; Iijima K; Nozu K
    CEN Case Rep; 2020 Nov; 9(4):431-436. PubMed ID: 32621070
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors.
    Zhou J; Mochizuki T; Smeets H; Antignac C; Laurila P; de Paepe A; Tryggvason K; Reeders ST
    Science; 1993 Aug; 261(5125):1167-9. PubMed ID: 8356449
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Diffuse leiomyomatosis with genital involvement and Alport syndrome. Report of two cases].
    Le Bras A; David A; Knipping M; Mensier A; Heidet L; Lopes P
    J Gynecol Obstet Biol Reprod (Paris); 1998 Sep; 27(5):523-8. PubMed ID: 9791580
    [TBL] [Abstract][Full Text] [Related]  

  • 35. COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.
    Longo I; Porcedda P; Mari F; Giachino D; Meloni I; Deplano C; Brusco A; Bosio M; Massella L; Lavoratti G; Roccatello D; Frascá G; Mazzucco G; Muda AO; Conti M; Fasciolo F; Arrondel C; Heidet L; Renieri A; De Marchi M
    Kidney Int; 2002 Jun; 61(6):1947-56. PubMed ID: 12028435
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Identification of 17 mutations in ten exons in the COL4A5 collagen gene, but no mutations found in four exons in COL4A6: a study of 250 patients with hematuria and suspected of having Alport syndrome.
    Heiskari N; Zhang X; Zhou J; Leinonen A; Barker D; Gregory M; Atkin CL; Netzer KO; Weber M; Reeders S; Grönhagen-Riska C; Neumann HP; Trembath R; Tryggvason K
    J Am Soc Nephrol; 1996 May; 7(5):702-9. PubMed ID: 8738805
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Autosomal recessive Alport syndrome: an in-depth clinical and molecular analysis of five families.
    Longo I; Scala E; Mari F; Caselli R; Pescucci C; Mencarelli MA; Speciale C; Giani M; Bresin E; Caringella DA; Borochowitz ZU; Siriwardena K; Winship I; Renieri A; Meloni I
    Nephrol Dial Transplant; 2006 Mar; 21(3):665-71. PubMed ID: 16338941
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes.
    Kashtan CE
    Medicine (Baltimore); 1999 Sep; 78(5):338-60. PubMed ID: 10499074
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome.
    Beicht S; Strobl-Wildemann G; Rath S; Wachter O; Alberer M; Kaminsky E; Weber LT; Hinrichsen T; Klein HG; Hoefele J
    Gene; 2013 Sep; 526(2):474-7. PubMed ID: 23732293
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.