Format
Sort by
Items per page

Send to

Choose Destination

Links from Books

Items: 16

1.

Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene.

Biason-Lauber A, Konrad D, Meyer M, DeBeaufort C, Schoenle EJ.

Am J Hum Genet. 2009 May;84(5):658-63. doi: 10.1016/j.ajhg.2009.03.016. Epub 2009 Apr 9.

2.

Concordance of phenotypic expression and gender identity in a large kindred with a mutation in the androgen receptor.

Hooper HT, Figueiredo BC, Pavan-Senn CC, De Lacerda L, Sandrini R, Mengarelli JK, Japp K, Karaviti LP.

Clin Genet. 2004 Mar;65(3):183-90.

PMID:
14756668
3.

Two successful pregnancies in a 46,XY patient.

Kan AK, Abdalla HI, Oskarsson T.

Hum Reprod. 1997 Jul;12(7):1434-5.

PMID:
9262272
4.

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
5.

Mutational analysis of SRY in XY females.

Hawkins JR.

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

PMID:
8257986
6.
7.

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.

8.

An additional case of Smith-Lemli-Opitz syndrome in a 46,XY infant with female external genitalia.

Scarbrough PR, Huddleston K, Finley SC.

J Med Genet. 1986 Apr;23(2):174-5.

9.

Pregnancy in a 46, XY patient.

Frydman R, Parneix I, Fries N, Testart J, Raymond JP, Bouchard P.

Fertil Steril. 1988 Nov;50(5):813-4. No abstract available.

PMID:
3181493
10.

Metastatic germ cell tumour associated with XY gonadal dysgenesis: successful chemotherapy. Case report.

Adewole IF, Newlands ES, Lamki H, Nevin M.

Br J Obstet Gynaecol. 1987 Jun;94(6):589-91. No abstract available.

PMID:
3040073
11.

Exchange of terminal portions of X- and Y-chromosomal short arms in human XY females.

Levilliers J, Quack B, Weissenbach J, Petit C.

Proc Natl Acad Sci U S A. 1989 Apr;86(7):2296-300.

12.

Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe.

Cantrell MA, Bicknell JN, Pagon RA, Page DC, Walker DC, Saal HM, Zinn AB, Disteche CM.

Hum Genet. 1989 Aug;83(1):88-92.

PMID:
2570023
13.

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
14.

XY female athlete with Olympic potential.

Hill PT, Stepanas AV.

Aust N Z J Med. 1991 Apr;21(2):242-3.

PMID:
1872753
15.

Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype.

Meacham LR, Winn KJ, Culler FL, Parks JS.

Am J Med Genet. 1991 Dec 15;41(4):478-81.

PMID:
1844355
16.

Normal Y sequences in Smith-Lemli-Opitz syndrome with total failure of masculinization.

Fukazawa R, Nakahori Y, Kogo T, Kawakami T, Akamatsu H, Tanae A, Hibi I, Nagafuchi S, Nakagome Y, Hirayama T.

Acta Paediatr. 1992 Jun-Jul;81(6-7):570-2.

PMID:
1392379

Supplemental Content

Support Center