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Items: 1 to 20 of 95

1.

Molecular analysis of the sex-determining region from the Y chromosome in two patients with Frasier syndrome.

Berta P, Morin D, Poulat F, Taviaux S, Lobaccaro JM, Sultan C, Dumas R.

Horm Res. 1992;37(3):103-6.

PMID:
1478624
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.

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.

4.

SRY mutation and tumor formation on the gonads of XP pure gonadal dysgenesis patients.

Uehara S, Funato T, Yaegashi N, Suziki H, Sato J, Sasaki T, Yajima A.

Cancer Genet Cytogenet. 1999 Aug;113(1):78-84.

PMID:
10459352
5.

Laparoscopic surgery and DNA analysis in patients with XY pure gonadal dysgenesis.

Tsutsumi O, Iida T, Taketani Y.

J Obstet Gynaecol (Tokyo 1995). 1995 Feb;21(1):67-74.

PMID:
8591113
6.

Detection of SRY in a 46,XY female (Swyer's syndrome).

Imai A, Horibe S, Fuseya T, Takagi H, Tamaya T.

J Med. 1997;28(1-2):49-54.

PMID:
9249610
7.

Mutational analysis of SRY in XY females.

Hawkins JR.

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

PMID:
8257986
8.

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
9.

A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.

Hersmus R, van der Zwan YG, Stoop H, Bernard P, Sreenivasan R, Oosterhuis JW, Brüggenwirth HT, de Boer S, White S, Wolffenbuttel KP, Alders M, McElreavy K, Drop SL, Harley VR, Looijenga LH.

PLoS One. 2012;7(7):e40858. doi: 10.1371/journal.pone.0040858. Epub 2012 Jul 18.

10.

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
11.

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
12.

Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome--a commentary on reported cases.

Moorthy AV, Chesney RW, Lubinsky M.

Am J Med Genet Suppl. 1987;3:297-302. Review.

PMID:
3130865
13.

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.

14.

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
15.

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
16.

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.

17.

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
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

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