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Items: 1 to 20 of 136

1.
2.

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
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.

4.

Mutational analysis of SRY in XY females.

Hawkins JR.

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

PMID:
8257986
5.

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
6.

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
7.

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
8.

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.

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.

11.

Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother.

Tsutsumi O, Iida T, Taketani Y, Sugase M, Nakahori Y, Nakagome Y.

Endocr J. 1994 Jun;41(3):281-5.

12.

Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46,XY sex reversal.

Hines RS, Tho SP, Zhang YY, Plouffe L Jr, Hansen KA, Khan I, McDonough PG.

Fertil Steril. 1997 Apr;67(4):675-9.

PMID:
9093193
13.

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
14.

A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.

Helszer Z, Dmochowska A, Szemraj J, Słowikowska-Hilczer J, Wieczorek M, Jędrzejczyk S, Kałużewski B.

Gene. 2013 Sep 10;526(2):467-70. doi: 10.1016/j.gene.2013.04.027. Epub 2013 Apr 24.

PMID:
23624391
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.

Mammalian sex determination: from gonads to brain.

Vilain E, McCabe ER.

Mol Genet Metab. 1998 Oct;65(2):74-84. Review.

PMID:
9787099
17.

Characterization and sequencing of the sex determining region Y gene (Sry) in Akodon (Cricetidae) species with sex reversed females.

Bianchi NO, Bianchi MS, Bailliet G, de la Chapelle A.

Chromosoma. 1993 Jun;102(6):389-95.

PMID:
7916665
18.

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
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.
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