177 related articles for article (PubMed ID: 19531589)
1. Familial frameshift SRY mutation inherited from a mosaic father with testicular dysgenesis syndrome.
Isidor B; Capito C; Paris F; Baron S; Corradini N; Cabaret B; Leclair MD; Giraud M; Martin-Coignard D; David A; Sultan C; Le Caignec C
J Clin Endocrinol Metab; 2009 Sep; 94(9):3467-71. PubMed ID: 19531589
[TBL] [Abstract][Full Text] [Related]
2. 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; 11():131. PubMed ID: 20849656
[TBL] [Abstract][Full Text] [Related]
3. 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; Baptista MT; Scolfaro MR; de Mello MP
J Mol Med (Berl); 2002 Dec; 80(12):782-90. PubMed ID: 12483463
[TBL] [Abstract][Full Text] [Related]
4. 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; 93(16):8590-4. PubMed ID: 8710915
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 10852465
[TBL] [Abstract][Full Text] [Related]
6. Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
Gimelli G; Gimelli S; Dimasi N; Bocciardi R; Di Battista E; Pramparo T; Zuffardi O
Eur J Hum Genet; 2007 Jan; 15(1):76-80. PubMed ID: 17063144
[TBL] [Abstract][Full Text] [Related]
7. 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; 49(6):494-8. PubMed ID: 16675314
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 10843173
[TBL] [Abstract][Full Text] [Related]
9. Functional Analysis of Mutations at Codon 127 of the SRY Gene Associated with 46,XY Complete Gonadal Dysgenesis.
Tajouri A; Ben Gaied D; Hizem S; Boujelben S; Maazoul F; M'rad R; Poulat F; Kharrat M
Sex Dev; 2017; 11(4):203-209. PubMed ID: 28787711
[TBL] [Abstract][Full Text] [Related]
10. A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis.
Filges I; Kunz C; Miny P; Boesch N; Szinnai G; Wenzel F; Tschudin S; Zumsteg U; Heinimann K
Fertil Steril; 2011 Oct; 96(4):851-5. PubMed ID: 21868002
[TBL] [Abstract][Full Text] [Related]
11. A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis.
Bilbao JR; Loridan L; Castaño L
Hum Genet; 1996 Apr; 97(4):537-9. PubMed ID: 8834258
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 12107262
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 9521592
[TBL] [Abstract][Full Text] [Related]
14. The role of sexual related Y gene detection in the diagnosis of patients with gonadal dysgenesis.
Yu Q; Huang S; Ye L; Feng L; He F; Ye J; Gu C; Ge Q
Chin Med J (Engl); 2001 Feb; 114(2):128-31. PubMed ID: 11780190
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 8864741
[TBL] [Abstract][Full Text] [Related]
16. Identification of a novel mutation (Ala66Thr) of SRY gene causes XY pure gonadal dysgenesis by affecting DNA binding activity and nuclear import.
Wang X; Xue M; Zhao M; He F; Li C; Li X
Gene; 2018 Apr; 651():143-151. PubMed ID: 29378242
[TBL] [Abstract][Full Text] [Related]
17. Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome.
Schumacher V; Gueler B; Looijenga LH; Becker JU; Amann K; Engers R; Dotsch J; Stoop H; Schulz W; Royer-Pokora B
Mol Reprod Dev; 2008 Sep; 75(9):1484-94. PubMed ID: 18271004
[TBL] [Abstract][Full Text] [Related]
18. A novel mutation (c. 341A>G) in the SRY gene in a 46,XY female patient with gonadal dysgenesis.
Helszer Z; Dmochowska A; Szemraj J; Słowikowska-Hilczer J; Wieczorek M; Jędrzejczyk S; Kałużewski B
Gene; 2013 Sep; 526(2):467-70. PubMed ID: 23624391
[TBL] [Abstract][Full Text] [Related]
19. Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations.
Scherer G; Held M; Erdel M; Meschede D; Horst J; Lesniewicz R; Midro AT
Cytogenet Cell Genet; 1998; 80(1-4):188-92. PubMed ID: 9678356
[TBL] [Abstract][Full Text] [Related]
20. The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.
Nishi MY; Costa EM; Oliveira SB; Mendonca BB; Domenice S
Horm Res Paediatr; 2011; 75(1):26-31. PubMed ID: 20699606
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
