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Items: 1 to 20 of 237

1.

[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
2.

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. Epub 2007 Mar 22.

PMID:
17378674
3.

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
4.

[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
5.

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
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.

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
8.

Denys-Drash syndrome.

Kucinskas L, Rudaitis S, Pundziene B, Just W.

Medicina (Kaunas). 2005;41(2):132-4.

9.

Variants in the Wilms' tumor gene are associated with focal segmental glomerulosclerosis in the African American population.

Orloff MS, Iyengar SK, Winkler CA, Goddard KA, Dart RA, Ahuja TS, Mokrzycki M, Briggs WA, Korbet SM, Kimmel PL, Simon EE, Trachtman H, Vlahov D, Michel DM, Berns JS, Smith MC, Schelling JR, Sedor JR, Kopp JB.

Physiol Genomics. 2005 Apr 14;21(2):212-21. Epub 2005 Feb 1.

10.

WT1 gene mutation responsible for male sex reversal and renal failure: the Frasier syndrome.

Saylam K, Simon P.

Eur J Obstet Gynecol Reprod Biol. 2003 Sep 10;110(1):111-3.

PMID:
12932885
11.

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
12.

Clinical and genetic findings of five patients with WT1-related disorders.

Andrade JG, Guaragna MS, Soardi FC, Guerra-Júnior G, Mello MP, Maciel-Guerra AT.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1236-43.

13.

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
14.

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
15.

Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis.

Pérez de Nanclares G, Castaño L, Bilbao JR, Vallo A, Rica I, Vela A, Martul P.

J Pediatr Endocrinol Metab. 2002 Jul-Aug;15(7):1047-50.

PMID:
12199335
16.

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.

17.

[A genetic childhood disease with consequences in adult life: the Denys-Drash syndrome].

Löwik MM, van den Berkmortel FW, Noordam C, van Hamersvelt HW, van den Heuvel LP, Levtchenko EN.

Ned Tijdschr Geneeskd. 2005 Jul 30;149(31):1751-5. Dutch. Erratum in: Ned Tijdschr Geneeskd. 2005 Oct 1;149(40):2260.

PMID:
16114294
18.

A girl with bilateral ovarian tumours: Frasier syndrome.

Shimoyama H, Nakajima M, Naka H, Park YD, Hori K, Morikawa H, Yoshioka A.

Eur J Pediatr. 2002 Feb;161(2):81-3.

PMID:
11954756
19.

Lack of puberty despite elevated estradiol in a 46,XY phenotypic female with Frasier syndrome.

Miyoshi Y, Santo Y, Tachikawa K, Namba N, Hirai H, Mushiake S, Nakajima S, Michigami T, Ozono K.

Endocr J. 2006 Jun;53(3):371-6. Epub 2006 May 23.

20.

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

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