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Items: 1 to 20 of 149

1.

46, XY gonadal dysgenesis and chronic renal failure: first reported case with Frasier syndrome from Turkey.

Karabulut HG, Sayin BD, Bökesoy I.

Genet Couns. 2004;15(4):489-91. No abstract available.

PMID:
15658629
2.

Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome--a commentary on reported cases.

Moorthy AV, Chesney RW, Lubinsky M.

Am J Med Genet Suppl. 1987;3:297-302. Review.

PMID:
3130865
3.

Frasier syndrome comes full circle: genetic studies performed in an original patient.

Wang NJ, Song HR, Schanen NC, Litman NL, Frasier SD.

J Pediatr. 2005 Jun;146(6):843-4.

PMID:
15973330
4.

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
5.

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
6.

Gonadoblastoma and dysgerminoma associated with XY gonadal dysgenesis in an adolescent with chronic renal failure: a case of Frasier syndrome.

Joki-Erkkilä MM, Karikoski R, Rantala I, Lenko HL, Visakorpi T, Heinonen PK.

J Pediatr Adolesc Gynecol. 2002 Jun;15(3):145-9.

PMID:
12106750
7.

Renal failure wit XY gonadal dysgenesis: report of the second case.

Harkins PG, Haning RV Jr, Shapiro SS.

Obstet Gynecol. 1980 Dec;56(6):751-2.

PMID:
7443120
8.

A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male.

Yang Y, Feng D, Huang J, Nie X, Yu Z.

Eur J Pediatr. 2013 Jan;172(1):127-9. doi: 10.1007/s00431-012-1770-0. Epub 2012 Jul 5.

PMID:
22763603
9.

Denys-Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G>A mutation in the WT1 gene.

Furtado LV, Pysher T, Opitz J, Lamb R, Comstock J, Batish S, Mauch T, Nelson R, Zhou H.

Fetal Pediatr Pathol. 2011;30(4):266-72. doi: 10.3109/15513815.2011.555814. Epub 2011 Mar 24.

PMID:
21434831
10.

Different clinical presentations of WT1 gene mutations.

Aydin M, Hakan N, Zenciroglu A, Aydog O, Okumus N.

Eur J Pediatr. 2013 Dec;172(12):1705-6. doi: 10.1007/s00431-013-2085-5. Epub 2013 Jul 9. No abstract available.

PMID:
23835858
11.

Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome.

Berta P, Morin D, Poulat F, Taviaux S, Lobaccaro JM, Sultan C, Dumas R.

Horm Res. 1992;37(3):103-6.

PMID:
1478624
12.

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.

J Clin Endocrinol Metab. 2002 Jun;87(6):2500-5. Review.

PMID:
12050205
13.

Patients with different or identical genotypes of the WT1 gene present different phenotypes.

Yang Y, Zhao F, Huang J, Nie X, Yu Z.

Eur J Pediatr. 2013 Dec;172(12):1707-8. doi: 10.1007/s00431-013-2086-4. Epub 2013 Jul 9. No abstract available.

PMID:
23835859
14.

WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.

Aucella F, Bisceglia L, De Bonis P, Gigante M, Caridi G, Barbano G, Mattioli G, Perfumo F, Gesualdo L, Ghiggeri GM.

Pediatr Nephrol. 2006 Oct;21(10):1393-8. Epub 2006 Aug 15.

PMID:
16909243
15.

WT1 intron 9 splice acceptor site mutation in a 46,XY male with focal segmental glomerulosclerosis.

Kanemoto K, Ishikura K, Ariyasu D, Hamasaki Y, Hataya H, Hasegawa Y, Ikeda M.

Pediatr Nephrol. 2007 Mar;22(3):454-8. Epub 2006 Oct 24.

PMID:
17061122
16.

A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X.

Heathcott RW, Morison IM, Gubler MC, Corbett R, Reeve AE.

Hum Mutat. 2002 Apr;19(4):462. Review.

PMID:
11933209
17.

A syndrome of chronic renal failure and XY gonadal dysgenesis in young phenotypic females without genital ambiguity.

Haning RV Jr, Chesney RW, Moorthy AV, Gilbert EF.

Am J Kidney Dis. 1985 Jul;6(1):40-8.

PMID:
3895900
18.

Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect.

Cho HY, Lee BS, Kang CH, Kim WH, Ha IS, Cheong HI, Choi Y.

Pediatr Nephrol. 2006 Dec;21(12):1909-12. Epub 2006 Aug 25.

PMID:
16932893
19.

WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report.

Finken MJ, Hendriks YM, van der Voorn JP, Veening MA, Lombardi MP, Rotteveel J.

Horm Res Paediatr. 2015;83(3):211-6. doi: 10.1159/000368964. Epub 2015 Jan 20.

PMID:
25613702
20.

[A case of Denys-Drash syndrome with prophylactic bilateral nephrectomy].

Yamamoto K, Santo Y, Satomura K.

Nihon Jinzo Gakkai Shi. 2003;45(1):42-6. Review. Japanese.

PMID:
12680320

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