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]