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

Year Number of Results
1987 2
1992 1
1994 1
1999 2
2000 2
2001 1
2002 1
2004 2
2005 1
2006 4
2007 1
2008 1
2011 2
2012 1
2013 1
2014 2
2015 1
2017 1
2020 1
2022 1
2023 0

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28 results

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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.
Several unusual Frasier syndrome cases have been reported in which male pseudohermaphroditism was absent. ...On the basis of our findings, we propose a new diagnostic algorithm for Frasier syndrome....
Several unusual Frasier syndrome cases have been reported in which male pseudohermaphroditism was absent. ...On the basis of o …
Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature.
Matsuoka D, Noda S, Kamiya M, Hidaka Y, Shimojo H, Yamada Y, Miyamoto T, Nozu K, Iijima K, Tsukaguchi H. Matsuoka D, et al. BMC Nephrol. 2020 Aug 24;21(1):362. doi: 10.1186/s12882-020-02007-0. BMC Nephrol. 2020. PMID: 32838737 Free PMC article. Review.
Identification of a de novo Wilms tumor 1 splice donor-site mutation in intron 9 (NM_024426.6:c.1447 + 4C > T) and 46,XY-gonadal dysgenesis led to the diagnosis of Frasier syndrome. CONCLUSIONS: Our findings, together with those of others, point to the importance …
Identification of a de novo Wilms tumor 1 splice donor-site mutation in intron 9 (NM_024426.6:c.1447 + 4C > T) and 46,XY-gonadal dysgenes …
Heterogeneity of human WT1 gene.
Bielińska E, Matiakowska K, Haus O. Bielińska E, et al. Postepy Hig Med Dosw (Online). 2017 Jul 11;71(0):595-601. doi: 10.5604/01.3001.0010.3840. Postepy Hig Med Dosw (Online). 2017. PMID: 28791954 Review.
The molecular basis of diseases such as Wilms tumor, WAGR, Denys-Drash or Frasier syndromes are congenital WT1 mutations, while somatic mutations of this gene occur in acute and chronic myeloid leukemia, myelodysplastic syndrome and also in some other blood neoplasm …
The molecular basis of diseases such as Wilms tumor, WAGR, Denys-Drash or Frasier syndromes are congenital WT1 mutations, while somat …
[Hermaphroditism pathology].
Jaubert F, Nihoul-Fékété C, Lortat-Jacob S, Josso N, Fellous M. Jaubert F, et al. Ann Pathol. 2004 Dec;24(6):499-509. doi: 10.1016/s0242-6498(04)94014-x. Ann Pathol. 2004. PMID: 15785398 Review. French.
The defects of sexual differentiation due to hormone deficiency are first studied: androgen insensitivity, steroid 5 alpha-reductase 2 deficiency, defects of testosterone synthesis, persistant mullerian ducts syndrome. Sexual determinism deficiencies are then presented: Tu …
The defects of sexual differentiation due to hormone deficiency are first studied: androgen insensitivity, steroid 5 alpha-reductase 2 defic …
WT1 and glomerular diseases.
Niaudet P, Gubler MC. Niaudet P, et al. Pediatr Nephrol. 2006 Nov;21(11):1653-60. doi: 10.1007/s00467-006-0208-1. Epub 2006 Aug 23. Pediatr Nephrol. 2006. PMID: 16927106 Review.
Patients with Frasier syndrome present with normal female external genitalia, streak gonads, XY karyotype and progressive nephropathy with proteinuria and nephrotic syndrome with focal and segmental glomerular sclerosis progressing to end-stage renal disease …
Patients with Frasier syndrome present with normal female external genitalia, streak gonads, XY karyotype and progressive neph …
WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.
Anderson E, Aldridge M, Turner R, Harraway J, McManus S, Stewart A, Borzi P, Trnka P, Burke J, Coman D. Anderson E, et al. Pediatr Nephrol. 2022 Oct;37(10):2369-2374. doi: 10.1007/s00467-022-05421-8. Epub 2022 Feb 24. Pediatr Nephrol. 2022. PMID: 35211794 Free PMC article. Review.
BACKGROUND: Intronic WT1 mutations are usually causative of Frasier syndrome with focal segmental glomerulosclerosis as the characteristic nephropathy. ...RESULTS: This report describes the kidney manifestations in 3 individuals from 2 unrelated families with Fra …
BACKGROUND: Intronic WT1 mutations are usually causative of Frasier syndrome with focal segmental glomerulosclerosis as the ch …
[Frasier syndrome].
Kohsaka T, Tagawa M, Koinuma S, Yamada M. Kohsaka T, et al. Nihon Rinsho. 2006 Jun 28;Suppl 2:499-504. Nihon Rinsho. 2006. PMID: 16817451 Review. Japanese. No abstract available.
Genetics of the nephrotic syndrome.
Salomon R, Gubler MC, Niaudet P. Salomon R, et al. Curr Opin Pediatr. 2000 Apr;12(2):129-34. doi: 10.1097/00008480-200004000-00008. Curr Opin Pediatr. 2000. PMID: 10763762 Review.
There are a large number of glomerular diseases that may be responsible for a nephrotic syndrome, the most frequent in childhood being minimal change disease. In the past few years, the molecular genetic basis of several conditions that may cause a nephrotic syndrome …
There are a large number of glomerular diseases that may be responsible for a nephrotic syndrome, the most frequent in childhood bein …
Alternative splicing and its role in pathologies of the endocrine system.
Piekiełko-Witkowska A, Nauman A. Piekiełko-Witkowska A, et al. Endokrynol Pol. 2011;62(2):160-70. Endokrynol Pol. 2011. PMID: 21528479 Free article. Review.
The examples given include endocrine-related tumours (pituitary tumours, cancers of the thyroid, prostate, ovary and breast, and insulinoma), isolated growth hormone deficiency, and Frasier syndrome. Non-endocrine pathologies in which aberrant alternative splicing o …
The examples given include endocrine-related tumours (pituitary tumours, cancers of the thyroid, prostate, ovary and breast, and insulinoma) …
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.
The association of WT1 gene mutations with most cases of Denys-Drash syndrome is well described. More recently WT1 mutations have also been described in a related condition, Frasier syndrome. We report a case where genetic analysis showed a WT1 mutation typic …
The association of WT1 gene mutations with most cases of Denys-Drash syndrome is well described. More recently WT1 mutations have als …
28 results