171 related articles for article (PubMed ID: 12932885)
1. 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]
2. 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]
3. [Denys-Drash syndrome. Experience gathered in Erlangen illustrated by two case reports].
Zugor V; Zenker M; Dötsch J; Schrott KM; Schott GE
Urologe A; 2005 Oct; 44(10):1197-200. PubMed ID: 16003530
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Denys-Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G>A mutation in the WT1 gene.
Furtado LV; Pysher T; Opitz J; Lamb R; Comstock J; Batish S; Mauch T; Nelson R; Zhou H
Fetal Pediatr Pathol; 2011; 30(4):266-72. PubMed ID: 21434831
[TBL] [Abstract][Full Text] [Related]
6. 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]
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. Frasier syndrome with childhood-onset renal failure.
Buzi F; Mella P; Pilotta A; Felappi B; Camerino G; Notarangelo LD
Horm Res; 2001; 55(2):77-80. PubMed ID: 11509863
[TBL] [Abstract][Full Text] [Related]
9. Hemolytic uremic syndrome as the presenting manifestation of WT1 mutation and Denys-Drash syndrome: a case report.
Alge JL; Wenderfer SE; Hicks J; Bekheirnia MR; Schady DA; Kain JS; Braun MC
BMC Nephrol; 2017 Jul; 18(1):243. PubMed ID: 28720077
[TBL] [Abstract][Full Text] [Related]
10. [A case of Denys-Drash syndrome with prophylactic bilateral nephrectomy].
Yamamoto K; Santo Y; Satomura K
Nihon Jinzo Gakkai Shi; 2003; 45(1):42-6. PubMed ID: 12680320
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A familial WT1 mutation associated with incomplete Denys-Drash syndrome.
Zhu C; Zhao F; Zhang W; Wu H; Chen Y; Ding G; Zhang A; Huang S
Eur J Pediatr; 2013 Oct; 172(10):1357-62. PubMed ID: 23715653
[TBL] [Abstract][Full Text] [Related]
13. Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy.
Patel PR; Pappas J; Arva NC; Franklin B; Brar PC
J Pediatr Endocrinol Metab; 2013; 26(9-10):971-4. PubMed ID: 23729537
[TBL] [Abstract][Full Text] [Related]
14. WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease.
Ferrari MTM; Watanabe A; da Silva TE; Gomes NL; Batista RL; Nishi MY; de Paula LCP; Costa EC; Costa EMF; Cukier P; Onuchic LF; Mendonca BB; Domenice S
Sex Dev; 2022; 16(1):46-54. PubMed ID: 34392242
[TBL] [Abstract][Full Text] [Related]
15. Prophylactic bilateral nephrectomy and preemptive kidney transplantation for Denys-Drash syndrome prior to development of kidney failure.
Hosokawa C; Hotta K; Okamoto T; Cho Y; Hirose T; Iwahara N; Manabe A; Shinohara N
Pediatr Nephrol; 2024 Mar; 39(3):905-909. PubMed ID: 37572117
[TBL] [Abstract][Full Text] [Related]
16. WT1 Haploinsufficiency Supports Milder Renal Manifestation in Two Patients with Denys-Drash Syndrome.
Guaragna MS; Ribeiro de Andrade JG; de Freitas Carli B; Belangero VM; Maciel-Guerra AT; Guerra-Júnior G; de Mello MP
Sex Dev; 2017; 11(1):34-39. PubMed ID: 28081536
[TBL] [Abstract][Full Text] [Related]
17. Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect.
Cho HY; Lee BS; Kang CH; Kim WH; Ha IS; Cheong HI; Choi Y
Pediatr Nephrol; 2006 Dec; 21(12):1909-12. PubMed ID: 16932893
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Denys-Drash syndrome].
Kohsaka T; Tagawa M; Yamada M
Nihon Rinsho; 2006 Sep; Suppl 3():457-64. PubMed ID: 17022587
[No Abstract] [Full Text] [Related]
20. Novel WT1 mutation (C388Y) in a female child with Denys-Drash syndrome.
Swiatecka-Urban A; Mokrzycki MH; Kaskel F; Da Silva F; Denamur E
Pediatr Nephrol; 2001 Aug; 16(8):627-30. PubMed ID: 11519891
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
