Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1997 1
1999 1
2000 2
2001 1
2002 2
2006 4
2007 3
2008 3
2009 1
2011 1
2012 1
2014 1
2015 1
2016 1
2017 1
2019 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

21 results

Results by year

Filters applied: . Clear all
Page 1
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. Ezaki J, et al. Cancer Prev Res (Phila). 2015 Apr;8(4):271-6. doi: 10.1158/1940-6207.CAPR-14-0415. Epub 2015 Jan 26. Cancer Prev Res (Phila). 2015. PMID: 25623218 Review.
Type 1 Frasier syndrome is characterized by female external genitalia with 46,XY (n = 72); type 2 by male external genitalia with 46,XY (n = 8); and type 3 by female external genitalia with 46,XX (n = 8). Clinical course differs markedly among the types. Although type 1 is …
Type 1 Frasier syndrome is characterized by female external genitalia with 46,XY (n = 72); type 2 by male external genitalia with 46,XY (n = …
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. Koziell A, et al. Clin Endocrinol (Oxf). 2000 Apr;52(4):519-24. doi: 10.1046/j.1365-2265.2000.00980.x. Clin Endocrinol (Oxf). 2000. PMID: 10762296 Review.
In addition, it illustrates the increasing significance of genetic investigation within clinical practice for diagnostic, prognostic and therapeutic purposes and the importance of karyotype analysis in phenotypically normal girls with renal disease....
In addition, it illustrates the increasing significance of genetic investigation within clinical practice for diagnostic, prognostic …
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. Melo KF, et al. J Clin Endocrinol Metab. 2002 Jun;87(6):2500-5. doi: 10.1210/jcem.87.6.8521. J Clin Endocrinol Metab. 2002. PMID: 12050205 Review.
Automatic sequencing identified the IVS9 +4C>T mutation in the WT1 gene, which predicts a change in splice site utilization. WT1 transcript analysis showed reversal of the normal positive/negative KTS (lysine, threonine, and serine) isoform ratio, confirming the diagnos …
Automatic sequencing identified the IVS9 +4C>T mutation in the WT1 gene, which predicts a change in splice site utilization. WT1 t …
Once-Daily Low-Dose Cyclosporine A Treatment with Angiotensin Blockade for Long-Term Remission of Nephropathy in Frasier Syndrome.
Chiba Y, Inoue CN. Chiba Y, et al. Tohoku J Exp Med. 2019 Jan;247(1):35-40. doi: 10.1620/tjem.247.35. Tohoku J Exp Med. 2019. PMID: 30651406 Free article.
However, the efficacy of cyclosporine A depends on the degree of histopathological findings, and the relationship between long-term use and renal prognosis remains unknown. Frasier syndrome is a rare genetic disorder caused by intronic mutations in WT1, and is characterize …
However, the efficacy of cyclosporine A depends on the degree of histopathological findings, and the relationship between long-term use and …
Clinical spectrum of Denys-Drash and Frasier syndrome.
McTaggart SJ, Algar E, Chow CW, Powell HR, Jones CL. McTaggart SJ, et al. Pediatr Nephrol. 2001 Apr;16(4):335-9. doi: 10.1007/s004670000541. Pediatr Nephrol. 2001. PMID: 11354777
This suggests that both these conditions should be considered as part of the spectrum of disease due to WT1 gene mutations rather than as separate diseases. Clinical classification remains important for prognosis, as the underlying renal disease appears to predict t …
This suggests that both these conditions should be considered as part of the spectrum of disease due to WT1 gene mutations rather than as se …
Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome.
Yang Y, Zhao F, Tu X, Yu Z. Yang Y, et al. Genet Mol Res. 2016 Mar 11;15(1):15017559. doi: 10.4238/gmr.15017559. Genet Mol Res. 2016. PMID: 26985958 Free article.
No causative WT1 mutation was identified in any of the patients. The WT1 mutation, IVS4+14T>C, which is not predicted to affect splicing, was identified in one patient who achieved complete remission after 8 weeks of oral prednisone treatment, indicating that IVS4+14T&g …
No causative WT1 mutation was identified in any of the patients. The WT1 mutation, IVS4+14T>C, which is not predicted to affect sp …
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. Barbaux S, et al. Nat Genet. 1997 Dec;17(4):467-70. doi: 10.1038/ng1297-467. Nat Genet. 1997. PMID: 9398852
Here we demonstrate that FS is caused by mutations in the donor splice site in intron 9 of WT1, with the predicted loss of the +KTS isoform. Examination of WT1 transcripts indeed showed a diminution of the +KTS/-KTS isoform ratio in patients with FS....
Here we demonstrate that FS is caused by mutations in the donor splice site in intron 9 of WT1, with the predicted loss of the +KTS i …
Recurrence of a dysgerminoma in Frasier syndrome.
Mestrallet G, Bertholet-Thomas A, Ranchin B, Bouvier R, Frappaz D, Cochat P. Mestrallet G, et al. Pediatr Transplant. 2011 May;15(3):e53-5. doi: 10.1111/j.1399-3046.2010.01273.x. Pediatr Transplant. 2011. PMID: 20408995
We report on a patient followed for FS revealed by acute peritoneal syndrome because of ovarian dysgerminoma. Therapeutic options had led to an unusual course with recurrent neoplastic disease after renal transplantation....
We report on a patient followed for FS revealed by acute peritoneal syndrome because of ovarian dysgerminoma. Therapeutic options had led to …
Evolutive study of children with diffuse mesangial sclerosis.
Nso Roca AP, Peña Carrión A, Benito Gutiérrez M, García Meseguer C, García Pose A, Navarro M. Nso Roca AP, et al. Pediatr Nephrol. 2009 May;24(5):1013-9. doi: 10.1007/s00467-008-1063-z. Epub 2008 Dec 10. Pediatr Nephrol. 2009. PMID: 19066977
Karyotype and WT1 gene analysis should be performed because of the predisposition of patients to develop different types of tumors. This nephropathy has a poor prognosis, but the survival rate has improved in the last decade....
Karyotype and WT1 gene analysis should be performed because of the predisposition of patients to develop different types of tumors. This nep …
21 results