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Items: 1 to 20 of 122

1.

Expanding the clinical spectrum of Frasier syndrome.

Gwin K, Cajaiba MM, Caminoa-Lizarralde A, Picazo ML, Nistal M, Reyes-Múgica M.

Pediatr Dev Pathol. 2008 Mar-Apr;11(2):122-7.

PMID:
17378674
2.

[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
3.

Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome.

Subbiah V, Huff V, Wolff JE, Ketonen L, Lang FF Jr, Stewart J, Langford L, Herzog CE.

Pediatr Blood Cancer. 2009 Dec 15;53(7):1349-51. doi: 10.1002/pbc.22152.

PMID:
19653292
4.

Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness.

Sinha A, Sharma S, Gulati A, Sharma A, Agarwala S, Hari P, Bagga A.

Pediatr Nephrol. 2010 Oct;25(10):2171-4. doi: 10.1007/s00467-010-1518-x.

PMID:
20419325
5.

WT1 and glomerular diseases.

Niaudet P, Gubler MC.

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

PMID:
16927106
6.

Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female.

Demmer L, Primack W, Loik V, Brown R, Therville N, McElreavey K.

J Am Soc Nephrol. 1999 Oct;10(10):2215-8.

7.

[Frasier syndrome: a rare syndrome with WT1 gene mutation in pediatric urology].

Zugor V, Zenker M, Schrott KM, Schott GE.

Aktuelle Urol. 2006 Jan;37(1):64-6. German.

PMID:
16440249
8.

Case report: Teenage girl with proteinuria and amenorrhea.

Hausladen J, Granahan E, Bockenhauer D.

Curr Opin Pediatr. 2001 Apr;13(2):150-3.

PMID:
11317057
9.

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
10.

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.

11.

Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome.

Joki-Erkkilä MM, Karikoski R, Rantala I, Lenko HL, Visakorpi T, Heinonen PK.

J Pediatr Adolesc Gynecol. 2002 Jun;15(3):145-9.

PMID:
12106750
12.

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.

Hersmus R, van der Zwan YG, Stoop H, Bernard P, Sreenivasan R, Oosterhuis JW, Brüggenwirth HT, de Boer S, White S, Wolffenbuttel KP, Alders M, McElreavy K, Drop SL, Harley VR, Looijenga LH.

PLoS One. 2012;7(7):e40858. doi: 10.1371/journal.pone.0040858.

13.
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.

PMID:
17061122
15.

Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases.

Denamur E, Bocquet N, Mougenot B, Da Silva F, Martinat L, Loirat C, Elion J, Bensman A, Ronco PM.

J Am Soc Nephrol. 1999 Oct;10(10):2219-23.

16.

Genotype-phenotype correlations: filling the void.

Parsa A.

Clin J Am Soc Nephrol. 2010 Sep;5(9):1542-3. doi: 10.2215/CJN.06300710. No abstract available.

17.

A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9.

Fujita S, Sugimoto K, Miyazawa T, Yanagida H, Tabata N, Okada M, Takemura T.

Clin Nephrol. 2010 Jun;73(6):487-91.

PMID:
20497763
18.

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.

PMID:
16909243
19.

A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene.

Okuhara K, Tajima S, Nakae J, Sasaki S, Tochimaru H, Abe S, Fujieda K.

Endocr J. 1999 Oct;46(5):639-42.

20.

A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis.

Benetti E, Caridi G, Malaventura C, Dagnino M, Leonardi E, Artifoni L, Ghiggeri GM, Tosatto SC, Murer L.

Clin J Am Soc Nephrol. 2010 Apr;5(4):698-702. doi: 10.2215/CJN.05670809.

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