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Items: 1 to 20 of 139

1.

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
2.

Two novel mutations in SRY gene form Chinese sex reversal XY females.

Zhou C, Fu JJ, Li LY, Lu GX.

Yi Chuan Xue Bao. 2005 May;32(5):443-9.

PMID:
16018252
3.
4.

Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.

Assumpção JG, Benedetti CE, Maciel-Guerra AT, Guerra G Jr, Baptista MT, Scolfaro MR, de Mello MP.

J Mol Med (Berl). 2002 Dec;80(12):782-90. Epub 2002 Oct 1.

PMID:
12483463
5.

A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis.

Kellermayer R, Halvax L, Czakó M, Shahid M, Dhillon VS, Husain SA, Süle N, Gömöri E, Mammel M, Kosztolányi G.

Diagn Mol Pathol. 2005 Sep;14(3):159-63.

PMID:
16106197
6.

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
7.

A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis.

Filges I, Kunz C, Miny P, Boesch N, Szinnai G, Wenzel F, Tschudin S, Zumsteg U, Heinimann K.

Fertil Steril. 2011 Oct;96(4):851-5. doi: 10.1016/j.fertnstert.2011.07.1137. Epub 2011 Aug 24.

PMID:
21868002
8.

Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.

Gimelli G, Gimelli S, Dimasi N, Bocciardi R, Di Battista E, Pramparo T, Zuffardi O.

Eur J Hum Genet. 2007 Jan;15(1):76-80. Epub 2006 Oct 25.

9.

Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor.

Schäffler A, Barth N, Winkler K, Zietz B, Rümmele P, Knüchel R, Schölmerich J, Palitzsch KD.

J Clin Endocrinol Metab. 2000 Jun;85(6):2287-92.

PMID:
10852465
10.

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.

11.

Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal.

Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN.

Hum Genet. 1992 Feb;88(4):471-4.

PMID:
1339396
12.

Two new novel point mutations localized upstream and downstream of the HMG box region of the SRY gene in three Indian 46,XY females with sex reversal and gonadal tumour formation.

Shahid M, Dhillion VS, Jain N, Hedau S, Diwakar S, Sachdeva P, Batra S, Das BC, Husain SA.

Mol Hum Reprod. 2004 Jul;10(7):521-6. Epub 2004 May 21.

PMID:
15155818
13.

Identification of a novel mutation in the SRY gene in a 46, XY female patient.

Salehi LB, Scarciolla O, Vanni GF, Nardone AM, Frajese G, Novelli G, Stuppia L.

Eur J Med Genet. 2006 Nov-Dec;49(6):494-8. Epub 2006 Apr 17.

PMID:
16675314
14.

A de novo phe671eu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis.

Zenteno JC, Carranza-Lira S, Jiménez AL, Kofman S.

J Endocrinol Invest. 2003 Nov;26(11):1117-9.

PMID:
15008251
15.

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.

16.

A familial mutation in the testis-determining gene SRY shared by both sexes.

Jäger RJ, Harley VR, Pfeiffer RA, Goodfellow PN, Scherer G.

Hum Genet. 1992 Dec;90(4):350-5.

PMID:
1483689
17.

Mutational analysis of SRY in XY females.

Hawkins JR.

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

PMID:
8257986
18.

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.

19.

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.

20.

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

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