BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

225 related articles for article (PubMed ID: 17061122)

  • 1. WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis.
    Kanemoto K; Ishikura K; Ariyasu D; Hamasaki Y; Hataya H; Hasegawa Y; Ikeda M
    Pediatr Nephrol; 2007 Mar; 22(3):454-8. PubMed ID: 17061122
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 46,XY phenotypic male with focal segmental glomerulosclerosis caused by the WT1 splice site mutation.
    Tajima T; Sasaki S; Tanaka Y; Kusunoki H; Nagashima T; Nonomura K; Fujieda K
    Horm Res; 2003; 60(6):302-5. PubMed ID: 14646409
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9.
    Fujita S; Sugimoto K; Miyazawa T; Yanagida H; Tabata N; Okada M; Takemura T
    Clin Nephrol; 2010 Jun; 73(6):487-91. PubMed ID: 20497763
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.
    Denamur E; Bocquet N; Mougenot B; Da Silva F; Martinat L; Loirat C; Elion J; Bensman A; Ronco PM
    J Am Soc Nephrol; 1999 Oct; 10(10):2219-23. PubMed ID: 10505700
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.
    Demmer L; Primack W; Loik V; Brown R; Therville N; McElreavey K
    J Am Soc Nephrol; 1999 Oct; 10(10):2215-8. PubMed ID: 10505699
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology].
    Zugor V; Zenker M; Schrott KM; Schott GE
    Aktuelle Urol; 2006 Jan; 37(1):64-6. PubMed ID: 16440249
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Surgical management and genotype/phenotype correlations in WT1 gene-related diseases (Drash, Frasier syndromes).
    Auber F; Lortat-Jacob S; Sarnacki S; Jaubert F; Salomon R; Thibaud E; Jeanpierre C; Nihoul-Fékété C
    J Pediatr Surg; 2003 Jan; 38(1):124-9; discussion 124-9. PubMed ID: 12592634
    [TBL] [Abstract][Full Text] [Related]  

  • 8. WT1 splice-site mutations are rarely associated with primary steroid-resistant focal and segmental glomerulosclerosis.
    Denamur E; Bocquet N; Baudouin V; Da Silva F; Veitia R; Peuchmaur M; Elion J; Gubler MC; Fellous M; Niaudet P; Loirat C
    Kidney Int; 2000 May; 57(5):1868-72. PubMed ID: 10792605
    [TBL] [Abstract][Full Text] [Related]  

  • 9. An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.
    Melo KF; Martin RM; Costa EM; Carvalho FM; Jorge AA; Arnhold IJ; Mendonca BB
    J Clin Endocrinol Metab; 2002 Jun; 87(6):2500-5. PubMed ID: 12050205
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population.
    Orloff MS; Iyengar SK; Winkler CA; Goddard KA; Dart RA; Ahuja TS; Mokrzycki M; Briggs WA; Korbet SM; Kimmel PL; Simon EE; Trachtman H; Vlahov D; Michel DM; Berns JS; Smith MC; Schelling JR; Sedor JR; Kopp JB
    Physiol Genomics; 2005 Apr; 21(2):212-21. PubMed ID: 15687485
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical spectrum of Denys-Drash and Frasier syndrome.
    McTaggart SJ; Algar E; Chow CW; Powell HR; Jones CL
    Pediatr Nephrol; 2001 Apr; 16(4):335-9. PubMed ID: 11354777
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
    Klamt B; Koziell A; Poulat F; Wieacker P; Scambler P; Berta P; Gessler M
    Hum Mol Genet; 1998 Apr; 7(4):709-14. PubMed ID: 9499425
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis.
    Pérez de Nanclares G; Castaño L; Bilbao JR; Vallo A; Rica I; Vela A; Martul P
    J Pediatr Endocrinol Metab; 2002; 15(7):1047-50. PubMed ID: 12199335
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.
    Benetti E; Caridi G; Malaventura C; Dagnino M; Leonardi E; Artifoni L; Ghiggeri GM; Tosatto SC; Murer L
    Clin J Am Soc Nephrol; 2010 Apr; 5(4):698-702. PubMed ID: 20150449
    [TBL] [Abstract][Full Text] [Related]  

  • 15. WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome.
    Saylam K; Simon P
    Eur J Obstet Gynecol Reprod Biol; 2003 Sep; 110(1):111-3. PubMed ID: 12932885
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
    Hersmus R; van der Zwan YG; Stoop H; Bernard P; Sreenivasan R; Oosterhuis JW; Brüggenwirth HT; de Boer S; White S; Wolffenbuttel KP; Alders M; McElreavy K; Drop SL; Harley VR; Looijenga LH
    PLoS One; 2012; 7(7):e40858. PubMed ID: 22815844
    [TBL] [Abstract][Full Text] [Related]  

  • 17. WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.
    Anderson E; Aldridge M; Turner R; Harraway J; McManus S; Stewart A; Borzi P; Trnka P; Burke J; Coman D
    Pediatr Nephrol; 2022 Oct; 37(10):2369-2374. PubMed ID: 35211794
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Clinical and pathological features and mutational types of WT1 mutation-associated nephropathy].
    Sun LZ; Wang HY; Li M; Lin HR; Wu JL; Tang W; Li YJ; Yue ZH; Liu T; Chen HM; Hu MY
    Zhonghua Er Ke Za Zhi; 2018 Oct; 56(10):769-774. PubMed ID: 30293282
    [No Abstract]   [Full Text] [Related]  

  • 19. Slow progressive FSGS associated with an F392L WT1 mutation.
    Kaltenis P; Schumacher V; Jankauskiene A; Laurinavicius A; Royer-Pokora B
    Pediatr Nephrol; 2004 Mar; 19(3):353-6. PubMed ID: 14745636
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
    Barbaux S; Niaudet P; Gubler MC; Grünfeld JP; Jaubert F; Kuttenn F; Fékété CN; Souleyreau-Therville N; Thibaud E; Fellous M; McElreavey K
    Nat Genet; 1997 Dec; 17(4):467-70. PubMed ID: 9398852
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.