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Results: 1 to 20 of 41

1.

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
[PubMed - indexed for MEDLINE]
2.

A WT1 exon 1 mutation in a child diagnosed with Denys-Drash syndrome.

Little S, Hanks S, King-Underwood L, Picton S, Cullinane C, Rapley E, Rahman N, Pritchard-Jones K.

Pediatr Nephrol. 2005 Jan;20(1):81-5. Epub 2004 Oct 21. Review.

PMID:
15503171
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.

Melo KF, Martin RM, Costa EM, Carvalho FM, Jorge AA, Arnhold IJ, Mendonca BB.

J Clin Endocrinol Metab. 2002 Jun;87(6):2500-5. Review.

PMID:
12050205
[PubMed - indexed for MEDLINE]
5.

WT1 and glomerular diseases.

Niaudet P, Gubler MC.

Pediatr Nephrol. 2006 Nov;21(11):1653-60. Epub 2006 Aug 23. Review.

PMID:
16927106
[PubMed - indexed for MEDLINE]
6.

[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
[PubMed - indexed for MEDLINE]
7.

New insights into the function of the Wilms tumor suppressor gene WT1 in podocytes.

Morrison AA, Viney RL, Saleem MA, Ladomery MR.

Am J Physiol Renal Physiol. 2008 Jul;295(1):F12-7. doi: 10.1152/ajprenal.00597.2007. Epub 2008 Apr 2. Review.

PMID:
18385267
[PubMed - indexed for MEDLINE]
Free Article
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
[PubMed - indexed for MEDLINE]
9.

Congenital diaphragmatic hernia in WAGR syndrome.

Scott DA, Cooper ML, Stankiewicz P, Patel A, Potocki L, Cheung SW.

Am J Med Genet A. 2005 May 1;134(4):430-3. Review.

PMID:
15779010
[PubMed - indexed for MEDLINE]
10.

The role of Wilms' tumor genes.

Hirose M.

J Med Invest. 1999 Aug;46(3-4):130-40. Review.

PMID:
10687307
[PubMed - indexed for MEDLINE]
11.

[Hereditary renal tumors: Wilms' tumor--congenital anomalies' syndrome].

Tsuchida Y, Yokomori K, Choi SH.

Nihon Rinsho. 1995 Nov;53(11):2742-8. Review. Japanese.

PMID:
8538037
[PubMed - indexed for MEDLINE]
12.

The role of WT1 in Wilms tumorigenesis.

Coppes MJ, Campbell CE, Williams BR.

FASEB J. 1993 Jul;7(10):886-95. Review.

PMID:
8393819
[PubMed - indexed for MEDLINE]
Free Article
13.

Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?

Koziell A, Charmandari E, Hindmarsh PC, Rees L, Scambler P, Brook CG.

Clin Endocrinol (Oxf). 2000 Apr;52(4):519-24. Review. Erratum in: Clin Endocrinol (Oxf) 2000 Jun;52(6):801.

PMID:
10762296
[PubMed - indexed for MEDLINE]
14.

A clinical overview of WT1 gene mutations.

Little M, Wells C.

Hum Mutat. 1997;9(3):209-25. Review.

PMID:
9090524
[PubMed - indexed for MEDLINE]
15.

WT1 mutation as a cause of 46 XY DSD and Wilm's tumour: a case report and literature review.

Dai YL, Fu JF, Hong F, Xu S, Shen Z.

Acta Paediatr. 2011 Jul;100(7):e39-42. doi: 10.1111/j.1651-2227.2011.02167.x. Epub 2011 Feb 14. Review.

PMID:
21314844
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
17.

Clinical and molecular evidence for the role of androgens and WT1 in testis descent.

Lim HN, Hughes IA, Hawkins JR.

Mol Cell Endocrinol. 2001 Dec 20;185(1-2):43-50. Review.

PMID:
11738793
[PubMed - indexed for MEDLINE]
18.
19.

The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations.

Stefanidis CJ, Querfeld U.

Eur J Pediatr. 2011 Nov;170(11):1377-83. doi: 10.1007/s00431-011-1397-6. Epub 2011 Feb 8. Review.

PMID:
21298518
[PubMed - indexed for MEDLINE]
20.

Frasier and Denys-Drash syndromes: different disorders or part of a spectrum?

Koziell A, Grundy R.

Arch Dis Child. 1999 Oct;81(4):365-9. Review. No abstract available.

PMID:
10490448
[PubMed - indexed for MEDLINE]
Free PMC Article
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