BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

124 related articles for article (PubMed ID: 12119492)

  • 1. Gonadal mosaicism of Frasier syndrome in 3 Chinese siblings with donor splice site mutation of Wilms' tumour gene.
    Chak WL; To KF; Cheng YL; Tsui KM; Lo KL; Tong HM; Lai FM; Wong FK; Choi KS; Chau KF; Li CS
    Nephron; 2002 Jul; 91(3):526-9. PubMed ID: 12119492
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. WT1 and glomerular diseases.
    Niaudet P; Gubler MC
    Pediatr Nephrol; 2006 Nov; 21(11):1653-60. PubMed ID: 16927106
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. [WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report].
    Wasilewska A; Zoch-Zwierz W; Tenderenda E; Rybi-Szumińska A; Kołodziejczyk Z
    Pol Merkur Lekarski; 2009 Jun; 26(156):642-4. PubMed ID: 19711733
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. A girl with bilateral ovarian tumours: Frasier syndrome.
    Shimoyama H; Nakajima M; Naka H; Park YD; Hori K; Morikawa H; Yoshioka A
    Eur J Pediatr; 2002 Feb; 161(2):81-3. PubMed ID: 11954756
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Frasier syndrome comes full circle: genetic studies performed in an original patient.
    Wang NJ; Song HR; Schanen NC; Litman NL; Frasier SD
    J Pediatr; 2005 Jun; 146(6):843-4. PubMed ID: 15973330
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Expanding the clinical spectrum of Frasier syndrome.
    Gwin K; Cajaiba MM; Caminoa-Lizarralde A; Picazo ML; Nistal M; Reyes-Múgica M
    Pediatr Dev Pathol; 2008; 11(2):122-7. PubMed ID: 17378674
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene.
    Okuhara K; Tajima S; Nakae J; Sasaki S; Tochimaru H; Abe S; Fujieda K
    Endocr J; 1999 Oct; 46(5):639-42. PubMed ID: 10670748
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [A genetic childhood disease with consequences in adult life: the Denys-Drash syndrome].
    Löwik MM; van den Berkmortel FW; Noordam C; van Hamersvelt HW; van den Heuvel LP; Levtchenko EN
    Ned Tijdschr Geneeskd; 2005 Jul; 149(31):1751-5. PubMed ID: 16114294
    [TBL] [Abstract][Full Text] [Related]  

  • 20. WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.
    Aucella F; Bisceglia L; De Bonis P; Gigante M; Caridi G; Barbano G; Mattioli G; Perfumo F; Gesualdo L; Ghiggeri GM
    Pediatr Nephrol; 2006 Oct; 21(10):1393-8. PubMed ID: 16909243
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.