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Items: 1 to 20 of 159

1.

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
2.

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
3.

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
4.

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
5.

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
6.

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
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
9.

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
10.

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
11.

WT1 mutations in patients with Denys-Drash syndrome: a novel mutation in exon 8 and paternal allele origin.

Nordenskjöld A, Friedman E, Anvret M.

Hum Genet. 1994 Feb;93(2):115-20.

PMID:
8112732
12.

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
13.

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
14.

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.

15.

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
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.

Genetic analysis of two female patients with incomplete Denys-Drash syndrome.

Ohta S, Ozawa T, Shiraga H, Fuse H.

Endocr J. 2000 Dec;47(6):683-7.

18.

[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
19.

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
20.

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

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