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Items: 1 to 20 of 110

1.

An unusual presentation of Denys-Drash syndrome due to bigenic disease.

Eneman B, Mekahli D, Audrezet MP, Lerut E, Van Damme-Lombaerts R, Van den Heuvel L, Levtchenko E.

Pediatrics. 2014 Jan;133(1):e252-6. doi: 10.1542/peds.2013-1524. Epub 2013 Dec 30.

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.

Denys-Drash syndrome.

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

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

4.

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;18(1):243. doi: 10.1186/s12882-017-0643-1.

5.

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
6.

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
7.

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
8.

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
9.

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
10.

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
11.

Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome.

Hillen LM, Kamsteeg EJ, Schoots J, Tiebosch AT, Speel EJ, Roemen GM, Peutz-Koostra CJ, Stumpel CT.

Fetal Pediatr Pathol. 2016;35(2):112-9. doi: 10.3109/15513815.2016.1139018. Epub 2016 Feb 16.

PMID:
26882358
12.

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
13.

[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
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.

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
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.

[A genetic childhood disease with consequences in adult life: the Denys-Drash syndrome].

Löwik MM, van den Berkmortel FW, Noordam C, van Hamersvelt HW, van den Heuvel LP, Levtchenko EN.

Ned Tijdschr Geneeskd. 2005 Jul 30;149(31):1751-5. Dutch. Erratum in: Ned Tijdschr Geneeskd. 2005 Oct 1;149(40):2260.

PMID:
16114294
18.

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
19.

Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.

Reiterová J, Štekrová J, Merta M, Kotlas J, Elišáková V, Lněnička P, Korabečná M, Kohoutová M, Tesař V.

BMC Nephrol. 2013 Mar 15;14:59. doi: 10.1186/1471-2369-14-59.

20.

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

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