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Items: 1 to 20 of 213

1.

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
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
4.

Genotype/phenotype correlations in Wilms' tumor.

Huff V.

Med Pediatr Oncol. 1996 Nov;27(5):408-14.

PMID:
8827067
5.

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
6.

Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.

Bruening W, Bardeesy N, Silverman BL, Cohn RA, Machin GA, Aronson AJ, Housman D, Pelletier J.

Nat Genet. 1992 May;1(2):144-8.

PMID:
1302008
7.

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.

8.

The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor.

Barbosa AS, Hadjiathanasiou CG, Theodoridis C, Papathanasiou A, Tar A, Merksz M, Györvári B, Sultan C, Dumas R, Jaubert F, Niaudet P, Moreira-Filho CA, Cotinot C, Fellous M.

Hum Mutat. 1999;13(2):146-53.

PMID:
10094551
9.

Germline WT1 mutations in Wilms' tumor patients: preliminary results.

Li FP, Breslow NE, Morgan JM, Ghahremani M, Miller GA, Grundy PE, Green DM, Diller LR, Pelletier J.

Med Pediatr Oncol. 1996 Nov;27(5):404-7.

PMID:
8827066
10.

Inherited WT1 mutation in Denys-Drash syndrome.

Coppes MJ, Liefers GJ, Higuchi M, Zinn AB, Balfe JW, Williams BR.

Cancer Res. 1992 Nov 1;52(21):6125-8.

11.

Donor splice-site mutations in WT1 are responsible for Frasier syndrome.

Barbaux S, Niaudet P, Gubler MC, Grünfeld JP, Jaubert F, Kuttenn F, Fékété CN, Souleyreau-Therville N, Thibaud E, Fellous M, McElreavey K.

Nat Genet. 1997 Dec;17(4):467-70.

PMID:
9398852
12.
13.

Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?

Kikuchi H, Takata A, Akasaka Y, Fukuzawa R, Yoneyama H, Kurosawa Y, Honda M, Kamiyama Y, Hata J.

J Med Genet. 1998 Jan;35(1):45-8.

14.

WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion.

Bardeesy N, Zabel B, Schmitt K, Pelletier J.

Genomics. 1994 Jun;21(3):663-4. No abstract available.

PMID:
7959750
15.

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
16.

Atypical presentation of Denys-Drash syndrome in a female with a novel Wt1 gene mutation.

Machin GA.

Birth Defects Orig Artic Ser. 1996;30(1):269-86. Review. No abstract available.

PMID:
9125334
17.

Software and database for the analysis of mutations in the human WT1 gene.

Jeanpierre C, Béroud C, Niaudet P, Junien C.

Nucleic Acids Res. 1998 Jan 1;26(1):271-4.

18.

A novel mutation of the WT1 gene (a tumor suppressor gene for Wilms' tumor) in a patient with Denys-Drash syndrome.

Sakai A, Tadokoro K, Yanagisawa H, Nagafuchi S, Hoshikawa N, Suzuki T, Kohsaka T, Hasegawa T, Nakahori Y, Yamada M.

Hum Mol Genet. 1993 Nov;2(11):1969-70. No abstract available.

PMID:
8281164
19.

A newly identified exonic mutation of the WT1 gene in a patient with Denys-Drash syndrome.

Tsuda M, Sakiyama T, Owada M, Chiba Y.

Acta Paediatr Jpn. 1996 Jun;38(3):265-6.

PMID:
8741319
20.

Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome.

Baird PN, Santos A, Groves N, Jadresic L, Cowell JK.

Hum Mol Genet. 1992 Aug;1(5):301-5.

PMID:
1338906
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