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Items: 12

1.

A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis.

Zeng YT, Ren ZR, Zhang ML, Huang Y, Zeng FY, Huang SZ.

J Med Genet. 1993 Aug;30(8):655-7.

2.

Analysis of the SRY gene in two sex-reversed XY sisters identifies two new novel point mutations in the high mobility group box domain.

Shahid M, Dhillon VS, Hussain Z, Masa JF, Aslam M, Raish M, Ahmad A, Khan NJ, Prasad S, Batra S, Pasha ST, Husain SA.

Fertil Steril. 2008 Oct;90(4):1199.e1-8. doi: 10.1016/j.fertnstert.2007.11.062. Epub 2008 Mar 4. Review.

PMID:
18304538
3.

Mutational analysis of SRY in XY females.

Hawkins JR.

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

PMID:
8257986
4.

Mammalian sex determination: from gonads to brain.

Vilain E, McCabe ER.

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

PMID:
9787099
5.

Candidate genes in complete and partial XY sex reversal: mutation analysis of SRY, SRY-related genes and FTZ-F1.

Lim HN, Freestone SH, Romero D, Kwok C, Hughes IA, Hawkins JR.

Mol Cell Endocrinol. 1998 May 25;140(1-2):51-8. Review.

PMID:
9722168
6.

XY sex reversal and gonadal dysgenesis due to 9p24 monosomy.

McDonald MT, Flejter W, Sheldon S, Putzi MJ, Gorski JL.

Am J Med Genet. 1997 Dec 19;73(3):321-6. Review.

7.

Deletions of 9p and the quest for a conserved mechanism of sex determination.

Ottolenghi C, McElreavey K.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):397-404. Review.

PMID:
11001833
8.

46,XY pure gonadal dysgenesis (Swyer-James syndrome)--Y or Y not?: a review.

Guidozzi F, Ball J, Spurdle A.

Obstet Gynecol Surv. 1994 Feb;49(2):138-46. Review.

PMID:
8164912
9.

Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation.

Ninomiya S, Narahara K, Tsuji K, Yokoyama Y, Ito S, Seino Y.

Am J Med Genet. 1995 Mar 13;56(1):31-4. Review.

PMID:
7747782
10.

[XY female].

Tsutsumi O.

Nihon Rinsho. 2006 Jun 28;Suppl 2:515-8. Review. Japanese. No abstract available.

PMID:
16817454
11.

[Swyer syndrome (XY gonadal dysgenesis)].

Yoshino K, Takahashi K, Kitao M.

Ryoikibetsu Shokogun Shirizu. 1993;(1):807-9. Review. Japanese. No abstract available.

PMID:
7757748
12.

[Testicular regression syndrome].

Matsumiya K, Miyagawa Y, Namiki M.

Ryoikibetsu Shokogun Shirizu. 1993;(1):885-7. Review. Japanese. No abstract available.

PMID:
7757776

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