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Items: 1 to 20 of 114

1.

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

J├Ąger RJ, Harley VR, Pfeiffer RA, Goodfellow PN, Scherer G.

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

PMID:
1483689
2.

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
3.
4.

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.

5.

A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.

Battiloro E, Angeletti B, Tozzi MC, Bruni L, Tondini S, Vignetti P, Verna R, D'Ambrosio E.

Hum Genet. 1997 Oct;100(5-6):585-7.

PMID:
9341876
6.

Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers.

Schmitt-Ney M, Thiele H, Kaltwasser P, Bardoni B, Cisternino M, Scherer G.

Am J Hum Genet. 1995 Apr;56(4):862-9.

7.

A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.

Domenice S, Yumie Nishi M, Correia Billerbeck AE, Latronico AC, Aparecida Medeiros M, Russell AJ, Vass K, Marino Carvalho F, Costa Frade EM, Prado Arnhold IJ, Bilharinho Mendonca B.

Hum Genet. 1998 Feb;102(2):213-5.

PMID:
9521592
8.

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.

9.

Mutations and sequence variants in the testis-determining region of the Y chromosome in individuals with a 46,XY female phenotype.

Veitia R, Ion A, Barbaux S, Jobling MA, Souleyreau N, Ennis K, Ostrer H, Tosi M, Meo T, Chibani J, Fellous M, McElreavey K.

Hum Genet. 1997 May;99(5):648-52.

PMID:
9150734
10.
11.

An SRY mutation causing human sex reversal resolves a general mechanism of structure-specific DNA recognition: application to the four-way DNA junction.

Peters R, King CY, Ukiyama E, Falsafi S, Donahoe PK, Weiss MA.

Biochemistry. 1995 Apr 11;34(14):4569-76.

PMID:
7718558
12.

Mutational analysis of SRY in XY females.

Hawkins JR.

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

PMID:
8257986
13.

Evolutionary conservation in the DNA-binding and -bending properties of HMG-boxes from SRY proteins of primates.

Pontiggia A, Whitfield S, Goodfellow PN, Lovell-Badge R, Bianchi ME.

Gene. 1995 Mar 10;154(2):277-80.

PMID:
7890177
14.

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
15.

A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2.

Collignon J, Sockanathan S, Hacker A, Cohen-Tannoudji M, Norris D, Rastan S, Stevanovic M, Goodfellow PN, Lovell-Badge R.

Development. 1996 Feb;122(2):509-20.

16.

Sry and Sox9: mammalian testis-determining genes.

Koopman P.

Cell Mol Life Sci. 1999 Jun;55(6-7):839-56. Review.

PMID:
10412367
17.
18.

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.

Okuhara K, Tajima T, Nakae J, Fujieda K.

J Hum Genet. 2000;45(2):112-4.

PMID:
10721678
19.

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
20.

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.

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