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Items: 1 to 20 of 162

1.

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
2.

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
3.

[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
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.

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
6.

[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
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.

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
9.

Outcome of renal transplantation for Wilms' tumor and Denys-Drash syndrome: a report of the North American Pediatric Renal Transplant Cooperative Study.

Kist-van Holthe JE, Ho PL, Stablein D, Harmon WE, Baum MA.

Pediatr Transplant. 2005 Jun;9(3):305-10.

PMID:
15910385
10.

WT1 splice site mutation in a 46,XX female with minimal-change nephrotic syndrome and Wilms' tumour.

Loirat C, André JL, Champigneulle J, Acquaviva C, Chantereau D, Bourquard R, Elion J, Denamur E.

Nephrol Dial Transplant. 2003 Apr;18(4):823-5. No abstract available.

PMID:
12637656
11.

[Glomerulopathy in Denys-Drash syndrome. Case report of a model disease].

Stallmach T, Neuhaus TJ, Kösters R, Hailemariam S.

Pathologe. 1998 May;19(3):230-4. German.

PMID:
9648150
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.

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.

PMID:
12592634
14.

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
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.

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
17.

Murine Denys-Drash syndrome: evidence of podocyte de-differentiation and systemic mediation of glomerulosclerosis.

Patek CE, Fleming S, Miles CG, Bellamy CO, Ladomery M, Spraggon L, Mullins J, Hastie ND, Hooper ML.

Hum Mol Genet. 2003 Sep 15;12(18):2379-94. Epub 2003 Jul 22.

PMID:
12915483
18.

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.

Jeanpierre C, Denamur E, Henry I, Cabanis MO, Luce S, Cécille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler MC, Junien C.

Am J Hum Genet. 1998 Apr;62(4):824-33.

19.

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
20.

Impaired glomerular maturation and lack of VEGF165b in Denys-Drash syndrome.

Schumacher VA, Jeruschke S, Eitner F, Becker JU, Pitschke G, Ince Y, Miner JH, Leuschner I, Engers R, Everding AS, Bulla M, Royer-Pokora B.

J Am Soc Nephrol. 2007 Mar;18(3):719-29. Epub 2007 Jan 31.

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