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Items: 1 to 20 of 99

1.

Analysis of the SRY gene in gonadal tissue of subjects with 46,XY gonadal dysgenesis.

Fuqua JS, McLaughlin J, Perlman EJ, Berkovitz GD.

J Clin Endocrinol Metab. 1997 Feb;82(2):701-2. No abstract available.

PMID:
9024280
2.

Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis.

Tagliarini EB, Assumpção JG, Scolfaro MR, Mello MP, Maciel-Guerra AT, Guerra Júnior G, Hackel C.

Braz J Med Biol Res. 2005 Jan;38(1):17-25. Epub 2005 Jan 18.

3.

Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.

Scherer G, Held M, Erdel M, Meschede D, Horst J, Lesniewicz R, Midro AT.

Cytogenet Cell Genet. 1998;80(1-4):188-92.

PMID:
9678356
4.

Novel mutation in the SRY gene results in 46,XY gonadal dysgenesis.

Cameron FJ, Smith MJ, Warne GL, Sinclair AH.

Hum Mutat. 1998;Suppl 1:S110-1. No abstract available.

PMID:
9452057
5.
6.

Complete XY gonadal dysgenesis and aspects of the SRYgenotype and gonadal tumor formation.

Uehara S, Hashiyada M, Sato K, Nata M, Funato T, Okamura K.

J Hum Genet. 2002;47(6):279-84.

PMID:
12111377
7.

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.

McElreavey K, Vilain E, Barbaux S, Fuqua JS, Fechner PY, Souleyreau N, Doco-Fenzy M, Gabriel R, Quereux C, Fellous M, Berkovitz GD.

Proc Natl Acad Sci U S A. 1996 Aug 6;93(16):8590-4.

8.

A novel mutation localized in the 3' non-HMG box region of the SRY gene in 46,XY gonadal dysgenesis.

Tajima T, Nakae J, Shinohara N, Fujieda K.

Hum Mol Genet. 1994 Jul;3(7):1187-9. No abstract available.

PMID:
7981695
9.

Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.

Mitchell CL, Harley VR.

Mol Genet Metab. 2002 Nov;77(3):217-25.

PMID:
12409269
10.

Mutation in the 5' noncoding region of the SRY gene in an XY sex-reversed patient.

Poulat F, Desclozeaux M, Tuffery S, Jay P, Boizet B, Berta P.

Hum Mutat. 1998;Suppl 1:S192-4. No abstract available.

PMID:
9452083
11.

Mutational analysis of SRY in XY females.

Hawkins JR.

Hum Mutat. 1993;2(5):347-50. Review.

PMID:
8257986
12.

Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis.

Dörk T, Stuhrmann M, Miller K, Schmidtke J.

Hum Mutat. 1998;11(1):90-1. No abstract available.

PMID:
9450909
13.

Mutation analysis of subjects with 46, XX sex reversal and 46, XY gonadal dysgenesis does not support the involvement of SOX3 in testis determination.

Lim HN, Berkovitz GD, Hughes IA, Hawkins JR.

Hum Genet. 2000 Dec;107(6):650-2. Epub 2000 Nov 14. Erratum in: Hum Genet. 2004 Aug;115(3):263.

PMID:
11153920
14.

Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.

Kwok C, Tyler-Smith C, Mendonca BB, Hughes I, Berkovitz GD, Goodfellow PN, Hawkins JR.

J Med Genet. 1996 Jun;33(6):465-8.

15.

Ascertainment and mutational studies of SRY in nine XY females.

Graves PE, Davis D, Erickson RP, Lopez M, Kofman-Alfaro S, Mendez JP, Speer IE.

Am J Med Genet. 1999 Mar 12;83(2):138-9. No abstract available.

PMID:
10190485
16.

Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.

Harley VR, Layfield S, Mitchell CL, Forwood JK, John AP, Briggs LJ, McDowall SG, Jans DA.

Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7045-50. Epub 2003 May 22.

17.

Detection of SRY in a 46,XY female (Swyer's syndrome).

Imai A, Horibe S, Fuseya T, Takagi H, Tamaya T.

J Med. 1997;28(1-2):49-54.

PMID:
9249610
18.

Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.

Jordan BK, Jain M, Natarajan S, Frasier SD, Vilain E.

J Clin Endocrinol Metab. 2002 Jul;87(7):3428-32.

PMID:
12107262
19.

Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis.

Hawkins JR, Taylor A, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD.

Am J Hum Genet. 1992 Nov;51(5):979-84.

20.

Localization of SRY by primed in situ labeling in XX and XY sex reversal.

Kadandale JS, Wachtel SS, Tunca Y, Wilroy RS Jr, Martens PR, Tharapel AT.

Am J Med Genet. 2000 Nov 6;95(1):71-4.

PMID:
11074498

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