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Items: 1 to 20 of 131

1.

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
2.

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. doi: 10.1159/000454821. Epub 2017 Jan 13.

PMID:
28081536
3.

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
4.

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
5.

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
6.

[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
7.

The novel WT1 gene mutation p.H377N associated to Denys-Drash syndrome.

Guaragna MS, Soardi FC, Assumpção JG, Zambaldi Lde J, Cardinalli IA, Yunes JA, de Mello MP, Brandalise SR, Aguiar Sdos S.

J Pediatr Hematol Oncol. 2010 Aug;32(6):486-8. doi: 10.1097/MPH.0b013e3181e5e20d.

PMID:
20562648
8.

Genetic analysis of two female patients with incomplete Denys-Drash syndrome.

Ohta S, Ozawa T, Shiraga H, Fuse H.

Endocr J. 2000 Dec;47(6):683-7.

9.

A novel WT1 gene mutation in a patient with Wilms' tumor and 46, XY gonadal dysgenesis.

Lee DG, Han DH, Park KH, Baek M.

Eur J Pediatr. 2011 Aug;170(8):1079-82. doi: 10.1007/s00431-011-1439-0. Epub 2011 Mar 8.

PMID:
21384108
10.

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
11.

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
12.

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
13.

Effects of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1.

Borel F, Barilla KC, Hamilton TB, Iskandar M, Romaniuk PJ.

Biochemistry. 1996 Sep 17;35(37):12070-6.

PMID:
8810912
14.

A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome.

Little S, Hanks S, King-Underwood L, Picton S, Cullinane C, Rapley E, Rahman N, Pritchard-Jones K.

Pediatr Nephrol. 2005 Jan;20(1):81-5. Epub 2004 Oct 21. Review.

PMID:
15503171
15.

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
16.

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
17.

Denys-Drash syndrome.

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

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

18.

WT1 and glomerular diseases.

Niaudet P, Gubler MC.

Pediatr Nephrol. 2006 Nov;21(11):1653-60. Epub 2006 Aug 23. Review.

PMID:
16927106
19.

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
20.

Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene.

Köhler B, Schumacher V, Schulte-Overberg U, Biewald W, Lennert T, l'Allemand D, Royer-Pokora B, Grüters A.

Pediatr Res. 1999 Feb;45(2):187-90.

PMID:
10022588

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