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Results: 1 to 20 of 137

Related Citations for PubMed (Select 8326498)

1.

Deletion 9p and sex reversal.

Bennett CP, Docherty Z, Robb SA, Ramani P, Hawkins JR, Grant D.

J Med Genet. 1993 Jun;30(6):518-20.

2.

A region of human chromosome 9p required for testis development contains two genes related to known sexual regulators.

Raymond CS, Parker ED, Kettlewell JR, Brown LG, Page DC, Kusz K, Jaruzelska J, Reinberg Y, Flejter WL, Bardwell VJ, Hirsch B, Zarkower D.

Hum Mol Genet. 1999 Jun;8(6):989-96.

3.

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.

PMID:
9415692
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.

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.

6.

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.

7.

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
8.

A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779.

Flejter WL, Fergestad J, Gorski J, Varvill T, Chandrasekharappa S.

Am J Hum Genet. 1998 Sep;63(3):794-802.

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.

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
11.

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
12.

Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA.

Barbaro M, Balsamo A, Anderlid BM, Myhre AG, Gennari M, Nicoletti A, Pittalis MC, Oscarson M, Wedell A.

Eur J Hum Genet. 2009 Nov;17(11):1439-47. doi: 10.1038/ejhg.2009.70. Epub 2009 May 6.

13.

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.

14.

Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.

Vinci G, Chantot-Bastaraud S, El Houate B, Lortat-Jacob S, Brauner R, McElreavey K.

Mol Hum Reprod. 2007 Sep;13(9):685-9. Epub 2007 Jul 20.

15.

Familial ovarian dysgerminomas (Swyer syndrome) in females associated with 46 XY-karyotype.

Kempe A, Engels H, Schubert R, Meindl A, van der Ven K, Plath H, Rhiem K, Schwanitz G, Schmutzler RK.

Gynecol Endocrinol. 2002 Apr;16(2):107-11.

PMID:
12012620
16.

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
17.

Deletions of distal 9p associated with 46,XY male to female sex reversal: definition of the breakpoints at 9p23.3-p24.1.

Veitia R, Nunes M, Brauner R, Doco-Fenzy M, Joanny-Flinois O, Jaubert F, Lortat-Jacob S, Fellous M, McElreavey K.

Genomics. 1997 Apr 15;41(2):271-4.

PMID:
9143505
18.

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.

19.

RB1 deletion in gonadoblastoma in an XY female.

Antonini S, Barbosa AS, Rosenberg C, Barbosa AC, Moreira-Filho AC, Vianna-Morgante AM.

Hum Genet. 1997 Dec;101(2):181-5.

PMID:
9402965
20.

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
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