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Items: 1 to 20 of 157

1.

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
2.

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
3.

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
4.

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
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.

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
7.

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
8.

[Denys-Drash syndrome].

Kohsaka T, Tagawa M, Yamada M.

Nihon Rinsho. 2006 Sep 28;Suppl 3:457-64. Review. Japanese. No abstract available.

PMID:
17022587
9.

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
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.

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
13.

[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
14.

WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome.

Saylam K, Simon P.

Eur J Obstet Gynecol Reprod Biol. 2003 Sep 10;110(1):111-3.

PMID:
12932885
15.

[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
16.

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
17.

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
18.

Denys-Drash syndrome.

Lin HC, Lin SK, Wen MC, Tseng CF, Fu LS, Chi CS.

J Formos Med Assoc. 2004 Jan;103(1):71-4.

PMID:
15026863
19.

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.

20.

Renal failure from birth-AKI or CKD? Answers.

Carter S, Dixit A, Lunn A, Deorukhkar A, Christian M.

Pediatr Nephrol. 2016 Dec;31(12):2259-2262. Epub 2016 Feb 18. No abstract available.

PMID:
26891727

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