Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 332

1.

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
2.

Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes.

Assumpção JG, Benedetti CE, Maciel-Guerra AT, Guerra G Jr, Baptista MT, Scolfaro MR, de Mello MP.

J Mol Med (Berl). 2002 Dec;80(12):782-90. Epub 2002 Oct 1.

PMID:
12483463
3.

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
4.

A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives.

Domenice S, Yumie Nishi M, Correia Billerbeck AE, Latronico AC, Aparecida Medeiros M, Russell AJ, Vass K, Marino Carvalho F, Costa Frade EM, Prado Arnhold IJ, Bilharinho Mendonca B.

Hum Genet. 1998 Feb;102(2):213-5.

PMID:
9521592
5.

A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism.

Canto P, de la Chesnaye E, López M, Cervantes A, Chávez B, Vilchis F, Reyes E, Ulloa-Aguirre A, Kofman-Alfaro S, Méndez JP.

J Clin Endocrinol Metab. 2000 May;85(5):1908-11.

PMID:
10843173
6.

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.

8.

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
9.
10.

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
11.

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
12.

Mammalian sex determination: from gonads to brain.

Vilain E, McCabe ER.

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

PMID:
9787099
13.

Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.

Jordan BK, Jain M, Natarajan S, Frasier SD, Vilain E.

J Clin Endocrinol Metab. 2002 Jul;87(7):3428-32.

PMID:
12107262
14.

Mutational analysis of SRY in XY females.

Hawkins JR.

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

PMID:
8257986
15.

A novel frame shift mutation in the HMG box of the SRY gene in a patient with complete 46,XY pure gonadal dysgenesis.

Kellermayer R, Halvax L, Czakó M, Shahid M, Dhillon VS, Husain SA, Süle N, Gömöri E, Mammel M, Kosztolányi G.

Diagn Mol Pathol. 2005 Sep;14(3):159-63.

PMID:
16106197
16.

Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.

Mitchell CL, Harley VR.

Mol Genet Metab. 2002 Nov;77(3):217-25.

PMID:
12409269
17.

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
18.

A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient.

Shahid M, Dhillon VS, Khalil HS, Haque S, Batra S, Husain SA, Looijenga LH.

BMC Med Genet. 2010 Sep 19;11:131. doi: 10.1186/1471-2350-11-131.

19.

A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.

Okuhara K, Tajima T, Nakae J, Fujieda K.

J Hum Genet. 2000;45(2):112-4.

PMID:
10721678
20.

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

Supplemental Content

Support Center