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Items: 1 to 20 of 530

1.

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
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.

Diaphragmatic hernia in Denys-Drash syndrome.

Devriendt K, Deloof E, Moerman P, Legius E, Vanhole C, de Zegher F, Proesmans W, Devlieger H.

Am J Med Genet. 1995 May 22;57(1):97-101.

PMID:
7645607
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.

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
6.

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
7.

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
8.

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
9.

No evidence of WT1 gene mutations in children with congenital diaphragmatic hernia.

Nordenskjöld A, Tapper-Persson M, Anvret M.

J Pediatr Surg. 1996 Jul;31(7):925-7.

PMID:
8811558
10.

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
11.

Single gene disorders associated with congenital diaphragmatic hernia.

Slavotinek AM.

Am J Med Genet C Semin Med Genet. 2007 May 15;145C(2):172-83.

PMID:
17436300
12.

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
13.

Pulmonary dysplasia, Denys-Drash syndrome and Wilms tumor 1 gene mutation in twins.

Dharnidharka VR, Ruteshouser EC, Rosen S, Kozakewich H, Harris HW Jr, Herrin JT, Huff V.

Pediatr Nephrol. 2001 Mar;16(3):227-31.

PMID:
11322369
15.

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
16.

[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
17.

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
18.

[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
19.

[WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report].

Wasilewska A, Zoch-Zwierz W, Tenderenda E, Rybi-Szumińska A, Kołodziejczyk Z.

Pol Merkur Lekarski. 2009 Jun;26(156):642-4. Polish.

PMID:
19711733
20.

Effect of cyclosporin A on proteinuria in the course of glomerulopathy associated with WT1 mutations.

Wasilewska AM, Kuroczycka-Saniutycz E, Zoch-Zwierz W.

Eur J Pediatr. 2011 Mar;170(3):389-91. doi: 10.1007/s00431-010-1278-4. Epub 2010 Sep 17.

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