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Frasier Syndrome
Known as:
Frasier Syndrome [Disease/Finding]
, Syndrome, Frasier
, frasiers syndrome
A syndrome characterized by CHRONIC KIDNEY FAILURE and GONADAL DYSGENESIS in phenotypic females with karyotype of 46,XY or female individual with a…
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National Institutes of Health
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Related topics
Related topics
17 relations
Autosomal dominant inheritance
Cryptophthalmos syndrome
Focal glomerulosclerosis
Gonadoblastoma
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2009
2009
Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT‐IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome
V. Subbiah
,
V. Huff
,
+5 authors
C. Herzog
Pediatric Blood & Cancer
2009
Corpus ID: 5301476
Frasier syndrome is characterized by a 46 XY disorder of sex development, nephropathy, and increased risk for gonadoblastoma due…
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Review
2008
Review
2008
Expanding the Clinical Spectrum of Frasier Syndrome
K. Gwin
,
M. Cajaiba
,
A. Caminoa-Lizarralde
,
M. Picazo
,
M. Nistal
,
M. Reyes-Múgica
Pediatric and Developmental Pathology
2008
Corpus ID: 11990089
Frasier syndrome is an uncommon genetic disorder featuring progressive glomerulopathy, male pseudohermaphroditism, and gonadal…
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2008
2008
Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome
V. Schumacher
,
B. Gueler
,
+7 authors
B. Royer-Pokora
Molecular Reproduction and Development
2008
Corpus ID: 19288298
Frasier syndrome (FS) is characterized by chronic renal failure in early adulthood, varying degrees of gonadal dysgenesis, and a…
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2003
2003
Gonad development in Drash and Frasier syndromes depends on WT1 mutations.
F. Jaubert
,
V. Vasiliu
,
+5 authors
M. Fellous
Arkhiv patologii
2003
Corpus ID: 32398264
The study of the gonads of 8 cases of Drash syndrome (6 ambiguous males, 2 females) and of 2 Frasier syndrome shows that WT1…
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Review
2002
Review
2002
Computer use and satisfaction by Great Plains producers: ordered logit model analysis
J. Ascough
,
Dana L. Hoag
,
Gregory S. McMaster
,
W. Frasier
2002
Corpus ID: 45980954
Agronomists rely increasingly on computers, and more than half of all producers have access to computers. Increasing farm…
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2001
2001
Frasier Syndrome with Childhood-Onset Renal Failure
F. Buzi
,
P. Mella
,
A. Pilotta
,
B. Felappi
,
G. Camerino
,
L. Notarangelo
Hormone Research in Paediatrics
2001
Corpus ID: 12412454
Background: The Wilms’ tumour 1 (WT1) gene encodes a protein which is believed to exert transcriptional and tumour-suppressor…
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2000
2000
Absent pubertal development in a child with chronic renal failure: the case of Frasier syndrome.
Anselm Bönte
,
Willibald Schröder
,
Erick Denamur
,
U. Querfeld
Nephrology, Dialysis and Transplantation
2000
Corpus ID: 15310030
Keywords: Denys-Drash syndrome; Frasier syndrome; no effect on proteinuria. A second renal biopsy per-gonadoblastoma; pubertal…
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Review
1999
Review
1999
Frasier and Denys-Drash syndromes: different disorders or part of a spectrum?
A. Koziell
,
R. Grundy
Archives of Disease in Childhood
1999
Corpus ID: 394092
Frasier and Denys-Drash syndromes are both characterised by renal disease, intersex, and a predisposition to develop tumours. The…
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1999
1999
A Japanese case with Frasier syndrome caused by the splice junction mutation of WT1 gene.
K. Okuhara
,
T. Tajima
,
+4 authors
K. Fujieda
Endocrine journal
1999
Corpus ID: 6884172
The Wilms' tumor suppressor gene, WT1, plays an important role in the development of the urogenital system and also subsequent…
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1992
1992
Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome.
P. Berta
,
D. Morin
,
+4 authors
R. Dumas
Hormone Research
1992
Corpus ID: 46852157
In the Frasier syndrome there is an association between XY gonadal dysgenesis and chronic renal failure. Owing to an observed sex…
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