scholarly journals Frasier syndrome

2020 ◽  
Author(s):  
Keyword(s):  
Frasier Syndrome

WT1 GENE MUTATIONS IN DENYS‐DRASH AND FRASIER SYNDROME

Nephrology ◽  
2000 ◽  
Vol 5 (3) ◽  
pp. A110-A110
Author(s):  
McTaggart Sj ◽  
Algar E ◽  
Chow Cw ◽  
Powell Hr ◽  
Jones CL.
Keyword(s):  
Gene Mutations ◽  
Wt1 Gene ◽  
Frasier Syndrome

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

2009 ◽  
Vol 53 (7) ◽  
pp. 1349-1351 ◽  
Author(s):  
Vivek Subbiah ◽  
Vicki Huff ◽  
Johannes E.A. Wolff ◽  
Leena Ketonen ◽  
Frederick F. Lang ◽  
...  
Keyword(s):  
Pilocytic Astrocytoma ◽  
Frasier Syndrome ◽  
Phenotypic Female

Outcome of Kidney Transplantation in Children With WT1 Gene-Related Disease (Drash, Frasier Syndrome).

2014 ◽  
Vol 98 ◽  
pp. 499 ◽  
Author(s):  
S. Shishido ◽  
Y. Hamasaki ◽  
T. Kawamura ◽  
M. Muramatsu ◽  
H. Sato ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Wt1 Gene ◽  
Frasier Syndrome ◽  
Related Disease

Alport syndrome–like basement membrane changes in frasier syndrome: an electron microscopy study

2003 ◽  
Vol 41 (5) ◽  
pp. 1110-1115 ◽  
Author(s):  
Shu-ichi Ito ◽  
Hiroshi Hataya ◽  
Masahiro Ikeda ◽  
Ayako Takata ◽  
Haruhito Kikuchi ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Basement Membrane ◽  
Alport Syndrome ◽  
Microscopy Study ◽  
Electron Microscopy Study ◽  
Frasier Syndrome ◽  
Membrane Changes

scholarly journals Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?

1998 ◽  
Vol 35 (1) ◽  
pp. 45-48 ◽  
Author(s):  
H Kikuchi ◽  
A Takata ◽  
Y Akasaka ◽  
R Fukuzawa ◽  
H Yoneyama ◽  
...  
Keyword(s):  
Frasier Syndrome ◽  
Exon 9

scholarly journals Proteinuria in frasier syndrome

2013 ◽  
Vol 141 (9-10) ◽  
pp. 685-688
Author(s):  
Amira Peco-Antic ◽  
Fatih Ozaltin ◽  
Vojislav Parezanovic ◽  
Gordana Milosevski-Lomic ◽  
Verica Zdravkovic
Keyword(s):  
Renin Angiotensin System ◽  
Suppressor Gene ◽  
Tumour Suppressor Gene ◽  
Frasier Syndrome ◽  
Angiotensin System ◽  
Increased Risk ◽  
Risk Of Malignancy ◽  
End Stage ◽  
Ras Inhibitors

Introduction. Frasier syndrome (FS) is a genetic form of glomerulopathy, which results from mutations in the Wilms? tumour suppressor gene (WT1). Proteinuria in FS has been traditionally considered unresponsive to any medication and FS inevitably progresses to end stage renal failure. Case Outline. We present a patient with FS who had atypical clinical manifestation and unusual beneficial antiproteinuric response to renin-angiotensin system (RAS) inhibitors given in combination with indomethacin. After 13 years of follow-up, the patient is now 17-year old with normal renal functions and no proteinuria. Conclusion. RAS inhibitors combined with indomethacin showed beneficial effect in our patient. Thus, this combination might be the initial treatment of patients with FS. If this treatment strategy was not satisfied for at least 3 months, then CsA would be considered to be administered taking account of the nephrotoxicity and the increased risk of malignancy. Further prospective study is required to clarify this issue.

Recurrence of a dysgerminoma in Frasier syndrome

2011 ◽  
Vol 15 (3) ◽  
pp. e53-e55 ◽  
Author(s):  
Guillaume Mestrallet ◽  
Aurélia Bertholet-Thomas ◽  
Bruno Ranchin ◽  
Raymonde Bouvier ◽  
Didier Frappaz ◽  
...  
Keyword(s):  
Frasier Syndrome

Chronic renal failure and XY gonadal dysgenesis: “Frasier” syndrome—a commentary on reported cases

1987 ◽  
Vol 28 (S3) ◽  
pp. 297-302 ◽  
Author(s):  
A. Vishnu Moorthy ◽  
Russell W. Chesney ◽  
Mark Lubinsky ◽  
John M. Opitz ◽  
Jay Bernstein
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Gonadal Dysgenesis ◽  
Frasier Syndrome ◽  
Xy Gonadal Dysgenesis

Total Laparoscopic Colocolpopoiesis in a Kidney Transplant Recipient With Frasier Syndrome

2016 ◽  
Vol 22 (1) ◽  
pp. e11-e13 ◽  
Author(s):  
Mark-Bram Bouman ◽  
Wouter B. van der Sluis ◽  
Shaikh A. Nurmohamed ◽  
Anne van Tellingen ◽  
Wilhelmus JHJ. Meijerink
Keyword(s):  
Transplant Recipient ◽  
Kidney Transplant ◽  
Kidney Transplant Recipient ◽  
Frasier Syndrome
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