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Items: 18

1.

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
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.

WT1 and glomerular diseases.

Niaudet P, Gubler MC.

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

PMID:
16927106
4.

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
5.

[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
6.

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
7.

Gonadal tumor in Frasier syndrome: a review and classification.

Ezaki J, Hashimoto K, Asano T, Kanda S, Akioka Y, Hattori M, Yamamoto T, Shibata N.

Cancer Prev Res (Phila). 2015 Apr;8(4):271-6. doi: 10.1158/1940-6207.CAPR-14-0415. Epub 2015 Jan 26. Review.

8.

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
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
10.

Heterogeneity of human WT1 gene.

Bielińska E, Matiakowska K, Haus O.

Postepy Hig Med Dosw (Online). 2017 Jul 11;71(0):595-601. Review.

11.

Pathogenesis of germ cell neoplasia in testicular dysgenesis and disorders of sex development.

Jørgensen A, Lindhardt Johansen M, Juul A, Skakkebaek NE, Main KM, Rajpert-De Meyts E.

Semin Cell Dev Biol. 2015 Sep;45:124-37. doi: 10.1016/j.semcdb.2015.09.013. Epub 2015 Sep 26. Review.

PMID:
26410164
12.

Malformation syndromes associated with disorders of sex development.

Hutson JM, Grover SR, O'Connell M, Pennell SD.

Nat Rev Endocrinol. 2014 Aug;10(8):476-87. doi: 10.1038/nrendo.2014.83. Epub 2014 Jun 10. Review.

PMID:
24913517
13.

[The genetic basis of childhood nephrotic syndrome].

Maruniak-Chudek I, Niemir ZI, Swietliński J.

Postepy Hig Med Dosw (Online). 2004;58:405-15. Review. Polish.

14.

[Progress in the molecular genetic mechanism of gonadoblastoma].

Yu LL, Dong WR, Chen MH, Kong XY.

Yi Chuan. 2015 Nov;37(11):1105-15. doi: 10.16288/j.yczz.15-124. Review. Chinese.

PMID:
26582524
15.

A practical guide for evaluating gonadal germ cell tumor predisposition in differences of sex development.

Pyle LC, Nathanson KL.

Am J Med Genet C Semin Med Genet. 2017 Jun;175(2):304-314. doi: 10.1002/ajmg.c.31562. Epub 2017 May 25. Review.

PMID:
28544305
16.

Steroidogenic organ development and homeostasis: A WT1-centric view.

Bandiera R, Sacco S, Vidal VP, Chaboissier MC, Schedl A.

Mol Cell Endocrinol. 2015 Jun 15;408:145-55. doi: 10.1016/j.mce.2015.01.009. Epub 2015 Jan 14. Review.

PMID:
25596547
17.

[WT1 gene and glomerular diseases].

Wang JJ, Ye LY, Yu ZH.

Zhonghua Er Ke Za Zhi. 2009 Mar;47(3):233-7. Review. Chinese. No abstract available.

PMID:
19573446
18.

Clinical spectrum of Fraser's syndrome: case report and review of the literature.

Chang HM, Ho KY, Wang LF, Lee KW, Huang IF, Kuo WR, Huang PH.

J Otolaryngol. 2004 Aug;33(4):268-71. Review. No abstract available.

PMID:
15903211

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