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Items: 1 to 20 of 169

1.

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
2.

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
3.

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
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.

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
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.

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
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.

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 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
12.

Denys-Drash syndrome.

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

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

13.

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
14.

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
15.

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome.

Pelletier J, Bruening W, Kashtan CE, Mauer SM, Manivel JC, Striegel JE, Houghton DC, Junien C, Habib R, Fouser L, et al.

Cell. 1991 Oct 18;67(2):437-47.

PMID:
1655284
16.

[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
17.

Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation.

Antonius T, van Bon B, Eggink A, van der Burgt I, Noordam K, van Heijst A.

Am J Med Genet A. 2008 Feb 15;146A(4):496-9. doi: 10.1002/ajmg.a.32168.

PMID:
18203154
18.

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
19.

A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy.

Schumacher V, Thumfart J, Drechsler M, Essayie M, Royer-Pokora B, Querfeld U, Müller D.

Nephrol Dial Transplant. 2006 Feb;21(2):518-21. Epub 2005 Nov 22. No abstract available.

PMID:
16303781
20.

A mutant form of the Wilms' tumor suppressor gene WT1 observed in Denys-Drash syndrome interferes with glomerular capillary development.

Natoli TA, Liu J, Eremina V, Hodgens K, Li C, Hamano Y, Mundel P, Kalluri R, Miner JH, Quaggin SE, Kreidberg JA.

J Am Soc Nephrol. 2002 Aug;13(8):2058-67.

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