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Items: 1 to 20 of 116

1.

A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male.

Yang Y, Feng D, Huang J, Nie X, Yu Z.

Eur J Pediatr. 2013 Jan;172(1):127-9. doi: 10.1007/s00431-012-1770-0. Epub 2012 Jul 5.

PMID:
22763603
2.

WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.

Aucella F, Bisceglia L, De Bonis P, Gigante M, Caridi G, Barbano G, Mattioli G, Perfumo F, Gesualdo L, Ghiggeri GM.

Pediatr Nephrol. 2006 Oct;21(10):1393-8. Epub 2006 Aug 15.

PMID:
16909243
3.

Different clinical presentations of WT1 gene mutations.

Aydin M, Hakan N, Zenciroglu A, Aydog O, Okumus N.

Eur J Pediatr. 2013 Dec;172(12):1705-6. doi: 10.1007/s00431-013-2085-5. Epub 2013 Jul 9. No abstract available.

PMID:
23835858
4.

Patients with different or identical genotypes of the WT1 gene present different phenotypes.

Yang Y, Zhao F, Huang J, Nie X, Yu Z.

Eur J Pediatr. 2013 Dec;172(12):1707-8. doi: 10.1007/s00431-013-2086-4. Epub 2013 Jul 9. No abstract available.

PMID:
23835859
5.

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.

Chernin G, Vega-Warner V, Schoeb DS, Heeringa SF, Ovunc B, Saisawat P, Cleper R, Ozaltin F, Hildebrandt F; Members of the GPN Study Group.

Clin J Am Soc Nephrol. 2010 Sep;5(9):1655-62. doi: 10.2215/CJN.09351209. Epub 2010 Jul 1.

6.

WT1 and glomerular diseases.

Niaudet P, Gubler MC.

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

PMID:
16927106
7.

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
8.

Clinical Aspects of WT1 and the Kidney.

Miller-Hodges E.

Methods Mol Biol. 2016;1467:15-21. doi: 10.1007/978-1-4939-4023-3_2.

PMID:
27417956
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.

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
11.

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
12.

Nephrotic syndrome and end-stage renal disease with WT1 mutation detected at 3 years.

Ito S, Ikeda M, Takata A, Kikuchi H, Hata J, Honda M.

Pediatr Nephrol. 1999 Nov;13(9):790-1.

PMID:
10603123
13.

Genetic forms of nephrotic syndrome: a single-center experience in Brussels.

Ismaili K, Pawtowski A, Boyer O, Wissing KM, Janssen F, Hall M.

Pediatr Nephrol. 2009 Feb;24(2):287-94. doi: 10.1007/s00467-008-0953-4. Epub 2008 Aug 16. Erratum in: Pediatr Nephrol. 2009 Feb;24(2):425. Pawtowski, Audrey [added]; Boyer, Olivia [added].

PMID:
18709391
14.

WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis.

Kanemoto K, Ishikura K, Ariyasu D, Hamasaki Y, Hataya H, Hasegawa Y, Ikeda M.

Pediatr Nephrol. 2007 Mar;22(3):454-8. Epub 2006 Oct 24.

PMID:
17061122
15.

Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation.

Kitsiou-Tzeli S, Deligiorgi M, Malaktari-Skarantavou S, Vlachopoulos C, Megremis S, Fylaktou I, Traeger-Synodinos J, Kanaka-Gantenbein C, Stefanadis C, Kanavakis E.

Hormones (Athens). 2012 Jul-Sep;11(3):361-7.

16.

Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome.

Yang Y, Zhao F, Tu X, Yu Z.

Genet Mol Res. 2016 Mar 11;15(1):15017559. doi: 10.4238/gmr.15017559.

17.

[WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report].

Wasilewska A, Zoch-Zwierz W, Tenderenda E, Rybi-Szumińska A, Kołodziejczyk Z.

Pol Merkur Lekarski. 2009 Jun;26(156):642-4. Polish.

PMID:
19711733
18.

Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations.

Schumacher V, Schärer K, Wühl E, Altrogge H, Bonzel KE, Guschmann M, Neuhaus TJ, Pollastro RM, Kuwertz-Bröking E, Bulla M, Tondera AM, Mundel P, Helmchen U, Waldherr R, Weirich A, Royer-Pokora B.

Kidney Int. 1998 Jun;53(6):1594-600.

19.

[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.

20.

46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey.

Karabulut HG, Sayin BD, Bökesoy I.

Genet Couns. 2004;15(4):489-91. No abstract available.

PMID:
15658629

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