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Items: 1 to 20 of 116

1.

Malformation syndromes associated with disorders of sex development.

Hutson JM, Grover SR, O'Connell M, Pennell SD.

Nat Rev Endocrinol. 2014 Aug;10(8):476-87. doi: 10.1038/nrendo.2014.83. Epub 2014 Jun 10. Review.

PMID:
24913517
2.

45,X/46,XY mosaicism. A clinical review and report of ten cases.

Knudtzon J, Aarskog D.

Eur J Pediatr. 1987 May;146(3):266-71.

PMID:
3595646
3.

Etiological diagnosis of undervirilized male/XY disorder of sex development.

Atta I, Ibrahim M, Parkash A, Lone SW, Khan YN, Raza J.

J Coll Physicians Surg Pak. 2014 Oct;24(10):714-8. doi: 10.2014/JCPSP.714718.

PMID:
25327912
4.

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
5.

Syndromal (and nonsyndromal) forms of male pseudohermaphroditism.

Neri G, Opitz J.

Am J Med Genet. 1999 Dec 29;89(4):201-9. Review.

PMID:
10727995
6.

Partial androgen receptor deficiency and mixed gonadal dysgenesis in Drash syndrome.

Turleau C, Niaudet P, Sultan C, Rault G, Mahfoud A, Nihoul-Fekete C, Iris L, de Grouchy J.

Hum Genet. 1987 Jan;75(1):81-3.

PMID:
3026952
7.

Sex chromosome and chromatin examination in gynecology.

Ge QS, Huang LY, Tang MY, Zhang YW, Tang HS, Li JX, Zhou XT.

Gynecol Obstet Invest. 1980;11(1):17-36.

PMID:
7390274
8.

Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome.

Chiang PW, Aliaga S, Travers S, Spector E, Tsai AC.

Curr Opin Pediatr. 2008 Feb;20(1):103-6. doi: 10.1097/MOP.0b013e3282f357eb.

PMID:
18197048
9.

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
10.

Surgical options in disorders of sex development (dsd) with ambiguous genitalia.

Vidal I, Gorduza DB, Haraux E, Gay CL, Chatelain P, Nicolino M, Mure PY, Mouriquand P.

Best Pract Res Clin Endocrinol Metab. 2010 Apr;24(2):311-24. doi: 10.1016/j.beem.2009.10.004. Review.

PMID:
20541154
12.

46XY siblings with inadequate virilization and CNS deficiency.

Hoffman RP, Steele MW, Lee PA, Brown TR, Wenger SL, Skiba PL.

Horm Res. 1988;29(5-6):207-10.

PMID:
3220458
13.

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
14.

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.

Jezela-Stanek A, Fisher C, Szarras-Czapnik M, Olczak-Kowalczyk D, Gibbons RJ, Słowikowska-Hilczer J, Krajewska-Walasek M.

Clin Dysmorphol. 2009 Jul;18(3):168-71. doi: 10.1097/MCD.0b013e32832a9ea5. No abstract available.

PMID:
19444090
15.

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
16.

Complex rearrangement of the exon 6 genomic region among Opitz G/BBB Syndrome MID1 alterations.

Migliore C, Athanasakis E, Dahoun S, Wonkam A, Lees M, Calabrese O, Connell F, Lynch SA, Izzi C, Pompilii E, Thakur S, van Maarle M, Wilson LC, Meroni G.

Eur J Med Genet. 2013 Aug;56(8):404-10. doi: 10.1016/j.ejmg.2013.05.009. Epub 2013 Jun 19.

PMID:
23791568
17.

Complete sex reversal in a WAGR syndrome patient.

Le Caignec C, Delnatte C, Vermeesch JR, Boceno M, Joubert M, Lavenant F, David A, Rival JM.

Am J Med Genet A. 2007 Nov 15;143A(22):2692-5.

PMID:
17935232
18.

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.

Hersmus R, van der Zwan YG, Stoop H, Bernard P, Sreenivasan R, Oosterhuis JW, Brüggenwirth HT, de Boer S, White S, Wolffenbuttel KP, Alders M, McElreavy K, Drop SL, Harley VR, Looijenga LH.

PLoS One. 2012;7(7):e40858. doi: 10.1371/journal.pone.0040858. Epub 2012 Jul 18.

19.

[WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report].

Wasilewska A, Zoch-Zwierz W, Tenderenda E, Rybi-Szumińska A, Kołodziejczyk Z.

Pol Merkur Lekarski. 2009 Jun;26(156):642-4. Polish.

PMID:
19711733
20.

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

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