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Items: 1 to 20 of 117

1.

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. doi: 10.1515/jpem-2012-0409.

PMID:
23729537
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. Review.

PMID:
12050205
3.

A novel WT1 heterozygous nonsense mutation (p.K248X) causing a mild and slightly progressive nephropathy in a 46,XY patient with Denys-Drash syndrome.

da Silva TE, Nishi MY, Costa EM, Martin RM, Carvalho FM, Mendonca BB, Domenice S.

Pediatr Nephrol. 2011 Aug;26(8):1311-5. doi: 10.1007/s00467-011-1847-4. Epub 2011 May 11.

PMID:
21559934
4.

A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X.

Heathcott RW, Morison IM, Gubler MC, Corbett R, Reeve AE.

Hum Mutat. 2002 Apr;19(4):462. Review.

PMID:
11933209
5.

Denys-Drash syndrome and gonadoblastoma in a patient with Klinefelter syndrome.

Tanteles GA, Oakley S, Christian M, O'neill D, Suri M.

Clin Dysmorphol. 2011 Jul;20(3):131-5. doi: 10.1097/MCD.0b013e328346f6dc. No abstract available.

PMID:
21552011
6.

Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.

Chiang PW, Aliaga S, Travers S, Spector E, Tsai AC.

Curr Opin Pediatr. 2008 Feb;20(1):103-6. doi: 10.1097/MOP.0b013e3282f357eb.

PMID:
18197048
7.

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 10;110(1):111-3.

PMID:
12932885
8.

Denys-Drash syndrome.

Kucinskas L, Rudaitis S, Pundziene B, Just W.

Medicina (Kaunas). 2005;41(2):132-4.

9.

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.

PMID:
11519891
10.
11.

Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.

Yue Z, Pei Y, Sun L, Huang W, Huang H, Hu B, Yang J, Jiang X, Mo Y, Chen S, Lai KN, Wang Y.

Ren Fail. 2011;33(9):910-4. doi: 10.3109/0886022X.2011.605528. Epub 2011 Aug 18.

PMID:
21851196
12.

A novel WT1 gene mutation in a newborn infant diagnosed with Denys-Drash syndrome.

Hakan N, Aydin M, Erdogan O, Cavusoglu YH, Aycan Z, Ozaltin F, Zenciroglu A, Apaydin S, Gunes R, Sahin G, Cinar G, Okumus N.

Genet Couns. 2012;23(2):255-61.

PMID:
22876585
13.

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. doi: 10.1007/s00431-013-2004-9. Epub 2013 May 29.

PMID:
23715653
14.

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. Epub 2006 Aug 25.

PMID:
16932893
15.

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. doi: 10.3109/15513815.2011.555814. Epub 2011 Mar 24.

PMID:
21434831
16.

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 Jul-Aug;15(7):1047-50.

PMID:
12199335
17.

[Clinical and pathological features of Denys-Drash syndrome: report of 3 cases].

Wang HY, Sun LZ, Yue ZH, Yang J, Jiang XY, Mo Y.

Zhonghua Er Ke Za Zhi. 2012 Nov;50(11):855-8. Chinese.

PMID:
23302619
18.

Prophylactic bilateral nephrectomies in two paediatric patients with missense mutations in the WT1 gene.

Hu M, Zhang GY, Arbuckle S, Graf N, Shun A, Silink M, Lewis D, Alexander SI.

Nephrol Dial Transplant. 2004 Jan;19(1):223-6.

PMID:
14671061
19.

[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. Review. Japanese.

PMID:
12680320
20.

Gonad development in Drash and Frasier syndromes depends on WT1 mutations.

Jaubert F, Vasiliu V, Patey-Mariaud de Serre N, Auber F, Jeanpierre C, Gubler MC, Nihoul-Fékété C, Fellous M.

Arkh Patol. 2003 Mar-Apr;65(2):40-4.

PMID:
15357247

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