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Items: 1 to 20 of 361

1.

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
2.

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.

3.

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
4.

Analysis of the testis-determining gene SRY in patients with XY gonadal dysgenesis.

Tsutsumi O, Iida T, Nakahori Y, Taketani Y.

Horm Res. 1996;46 Suppl 1:6-10.

PMID:
8864741
5.

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.

McElreavy K, Vilain E, Abbas N, Costa JM, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F, et al.

Proc Natl Acad Sci U S A. 1992 Nov 15;89(22):11016-20.

6.

Evidence that the SRY protein is encoded by a single exon on the human Y chromosome.

Behlke MA, Bogan JS, Beer-Romero P, Page DC.

Genomics. 1993 Sep;17(3):736-9.

PMID:
8244390
7.

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
8.
9.

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
10.

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
11.

Mutational analysis of SRY in XY females.

Hawkins JR.

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

PMID:
8257986
12.

Familial case with sequence variant in the testis-determining region associated with two sex phenotypes.

Vilain E, McElreavey K, Jaubert F, Raymond JP, Richaud F, Fellous M.

Am J Hum Genet. 1992 May;50(5):1008-11.

13.

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
14.

Genetic evidence equating SRY and the testis-determining factor.

Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M.

Nature. 1990 Nov 29;348(6300):448-50.

PMID:
2247149
15.

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
16.

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
17.

XY sex reversal associated with a nonsense mutation in SRY.

McElreavey KD, Vilain E, Boucekkine C, Vidaud M, Jaubert F, Richaud F, Fellous M.

Genomics. 1992 Jul;13(3):838-40.

PMID:
1639410
18.

A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.

Jäger RJ, Anvret M, Hall K, Scherer G.

Nature. 1990 Nov 29;348(6300):452-4.

PMID:
2247151
19.

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
20.

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

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