144 related articles for article (PubMed ID: 8105086)
41. DNA binding activity studies and computational approach of mutant SRY in patients with 46, XY complete pure gonadal dysgenesis.
Sánchez-Moreno I; Canto P; Munguía P; de León MB; Cisneros B; Vilchis F; Reyes E; Méndez JP
Mol Cell Endocrinol; 2009 Feb; 299(2):212-8. PubMed ID: 19007850
[TBL] [Abstract][Full Text] [Related]
42. 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]
43. Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.
Paris F; Philibert P; Lumbroso S; Baldet P; Charvet JP; Galifer RB; Sultan C
Fertil Steril; 2007 Nov; 88(5):1437.e21-5. PubMed ID: 17493621
[TBL] [Abstract][Full Text] [Related]
44. A case report of 46,XY partial gonadal dysgenesis caused by a novel mutation in the sex-determining region gene.
Xu K; Su N; Zhang H; Zhu J; Cheng X
Transl Pediatr; 2020 Dec; 9(6):867-872. PubMed ID: 33457310
[TBL] [Abstract][Full Text] [Related]
45. Mutation in the 5' noncoding region of the SRY gene in an XY sex-reversed patient.
Poulat F; Desclozeaux M; Tuffery S; Jay P; Boizet B; Berta P
Hum Mutat; 1998; Suppl 1():S192-4. PubMed ID: 9452083
[No Abstract] [Full Text] [Related]
46. Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods.
Das DK; Sanghavi D; Gawde H; Idicula-Thomas S; Vasudevan L
Eur J Med Genet; 2011; 54(6):e529-34. PubMed ID: 21816240
[TBL] [Abstract][Full Text] [Related]
47. Novel DMRT1 3'UTR+11insT mutation associated to XY partial gonadal dysgenesis.
Mello MP; Coeli FB; Assumpção JG; Castro TM; Maciel-Guerra AT; Marques-de-Faria AP; Baptista MT; Guerra-Júnior G
Arq Bras Endocrinol Metabol; 2010 Nov; 54(8):749-53. PubMed ID: 21340164
[TBL] [Abstract][Full Text] [Related]
48. Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome).
Iliopoulos D; Volakakis N; Tsiga A; Rousso I; Voyiatzis N
Ann Genet; 2004; 47(2):185-90. PubMed ID: 15183752
[TBL] [Abstract][Full Text] [Related]
49. Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.
Marchina E; Gambera A; Spinelli E; Clerici P; Scagliola P; Sartori E; Barlati S
Fertil Steril; 2009 Mar; 91(3):932.e7-932.e11. PubMed ID: 18990383
[TBL] [Abstract][Full Text] [Related]
50. True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case.
Braun A; Kammerer S; Cleve H; Löhrs U; Schwarz HP; Kuhnle U
Am J Hum Genet; 1993 Mar; 52(3):578-85. PubMed ID: 8447323
[TBL] [Abstract][Full Text] [Related]
51. Characterisation of eight cattle with Swyer syndrome by whole-genome sequencing.
Berry DP; Herman EK; Carthy TR; Jennings R; Bandi-Kenari N; O'Connor RE; Mee JF; O'Donovan J; Mathews D; Stothard P
Anim Genet; 2023 Apr; 54(2):93-103. PubMed ID: 36504456
[TBL] [Abstract][Full Text] [Related]
52. 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. PubMed ID: 8591113
[TBL] [Abstract][Full Text] [Related]
53. XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region.
McElreavy K; Vilain E; Abbas N; Costa JM; Souleyreau N; Kucheria K; Boucekkine C; Thibaud E; Brauner R; Flamant F
Proc Natl Acad Sci U S A; 1992 Nov; 89(22):11016-20. PubMed ID: 1438307
[TBL] [Abstract][Full Text] [Related]
54. Three new novel point mutations localized within and downstream of high-mobility group-box region in SRY gene in three Indian females with Turner syndrome.
Shahid M; Dhillon VS; Aslam M; Husain SA
J Clin Endocrinol Metab; 2005 Apr; 90(4):2429-35. PubMed ID: 15687343
[TBL] [Abstract][Full Text] [Related]
55. [Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis].
Boucekkine C; Vilain E; McElreavey K; Jaubert F; Brauner R; Thibaud E; Battin J; Toublanc JE; Kucheria K; Chaabouni S
Ann Endocrinol (Paris); 1994; 54(5):315-21. PubMed ID: 8085778
[TBL] [Abstract][Full Text] [Related]
56. Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal.
Giuffrè M; Sammarco P; Fabiano C; Giardina F; Lunetta F; Corsello G
Am J Med Genet A; 2004 Jul; 128A(1):46-7. PubMed ID: 15211655
[TBL] [Abstract][Full Text] [Related]
57. A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis.
Fan W; Wang B; He S; Zhang T; Yin C; Chen Y; Zheng S; Zhang J; Li L
PLoS One; 2016; 11(12):e0168484. PubMed ID: 28030592
[TBL] [Abstract][Full Text] [Related]
58. Lack of mutational alteration in the conserved regions of ZFY and SRY genes of 46,XY females with gonadal dysgenesis.
Pao CC; Kao SM; Hor JJ; Chang SY
Hum Reprod; 1993 Feb; 8(2):224-8. PubMed ID: 8473424
[TBL] [Abstract][Full Text] [Related]
59. Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis.
Georg I; Bagheri-Fam S; Knower KC; Wieacker P; Scherer G; Harley VR
Sex Dev; 2010; 4(6):321-5. PubMed ID: 20838034
[TBL] [Abstract][Full Text] [Related]
60. 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. PubMed ID: 12111377
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]