| 1 | The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants . (20699606) | Nishi M.Y.... Domenice S. | 2011 | SRY |
| 2 | Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structur al and functional implications by computational methods. (21816240) | Das D.K.... Vasudevan L. | 2011 | DHH |
| 3 | A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternall y transmitted 46,XY complete gonadal dysgenesis. (21868002) | Filges I.... Heinimann K. | 2011 | SRY |
| 4 | Chromosome 9P deletion: Gonadal dysgenesis associate d with mental retardation and hypoplasia of the corpus callosum: A contiguous g ene syndrome? (20138017) | Climent AlcalA! F.J.... Gracia Bouthelier R. | 2010 | DMRT1 |
| 5 | Peripheral neuropathy and 46XY gonadal dysgenesis: a heterogeneous entity. (19167223) | Baets J.... Jonghe P.D. | 2009 | MFN2 |
| 6 | SF-1, a key player in adrenal and gonadal differenti ation: implications in gonadal dysgenesis and primary ovarian insufficiency (19878766) | Martinerie L.... Lombes M. | 2009 | NR5A1 |
| 7 | X-linked alpha thalassaemia/mental retardation syndro me: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene. (19444090) | Jezela-Stanek A.... Krajewska-Walasek M. | 2009 | ATRX |
| 8 | Gonadoblastoma-associated mixed germ cell tumour in 46,XY complete gonadal dysgenesis (Swyer syndrome): analysis of Y chromosomal genotype and OCT3/4 and TSPY expression profile. (18312345) | Ng S.B.... Looijenga L.H. | 2008 | TSPY1 |
| 9 | BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. (17826728) | Ledig S.... Wieacker P. | 2008 | GDF9, BMP15 |
| 10 | Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. (17504899) | Barbaro M.... Wedell A. | 2007 | NR0B1 |
| 11 | Mixed gonadal dysgenesis and Denys-Drash syndrome: urologists should screen for nephrotic syndrome. (18163932) | Shapiro O.... Upadhyay J. | 2007 | WT1 |
| 12 | Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation. (17493621) | Paris F.... Sultan C. | 2007 | SRY |
| 13 | Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. (17063144) | Gimelli G.... Zuffardi O. | 2007 | SRY |
| 14 | A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency. (17656604) | Reuter A.L.... Parker K.L. | 2007 | NR5A1 |
| 15 | Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis. (17309641) | Finelli P.... Larizza L. | 2007 | ZFPM2 |
| 16 | Isodicentric Y (p11.32) chromosome in an infant with mixed gonadal dysgenesis. (16530711) | Aktas D.... Tuncbilek E. | 2006 | SRY, DAZ4, AZF1 |
| 17 | Molecular evaluation of the SRY gene for gonads of patients with mixed gonadal dysgenesis. (16045561) | Mizuno K.... Kohri K. | 2005 | SRY |
| 18 | Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial gonadal dysgenesis. (15665984) | Tagliarini E.B.... Hackel C. | 2005 | WT1, SRY |
| 19 | A heterozygous mutation in the desert hedgehog gene in patients with mixed gonadal dysgenesis. (16390857) | Canto P.... Mendez J.P. | 2005 | DHH |
| 20 | Screening for mutations in the SRY gene in patients with mixed gonadal dysgenesis or with Turner syndrome and Y mosaicism. (15223166) | Canto P.... MAcndez J.P. | 2004 | SRY |
| 21 | Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis. (15356051) | Canto P.... Mendez J.P. | 2004 | DHH |
| 22 | Applicability of the SHBG androgen sensitivity test in the differential diagnosis of 46,XY gonadal dysgenesis, true hermaphroditism, and androgen insensitivity syndrome. (15146368) | Krause A.... Hoepffner W. | 2004 | SHBG |
| 23 | Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome). (15183752) | Iliopoulos D.... Voyiatzis N. | 2004 | SRY |
| 24 | Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis. (12919143) | Baldazzi L.... Nicolettic A. | 2003 | SRY |
| 25 | Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis. (12199335) | PAcrez de Nanclares G.... Martul P. | 2002 | WT1 |
| 26 | 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. (12483463) | Assumpcao J.G.... de Mello M.P. | 2002 | SRY |
| 27 | Molecular analysis of SRY gene in patients with mixed gonadal dysgenesis. (11694229) | Alvarez-Nava F.... Alvarez Z. | 2001 | SRY |
| 28 | No evidence of mutations in the follicle-stimulating hormone receptor gene in Mexican women with 46,XX pure gonadal dysgenesis. (11223847) | de la Chesnaye E.... Mendez J.P. | 2001 | FSHR |
| 29 | Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome. (11393579) | Cetinkaya E.... OrA1n E. | 2001 | WT1 |
| 30 | 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. (10852465) | Schaeffler A.... Palitzsch K.-D. | 2000 | SRY |
| 31 | A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. (11017805) | Umehara F.... Osame M. | 2000 | DHH |
| 32 | A concomitant decrease in cortical and trabecular bone mass in isolated hypogonadotropic hypogonadism and gonadal dysgenesis. (10565254) | Park K.H.... Kim J.W. | 1999 | BGLAP |
| 33 | SRY mutation and tumor formation on the gonads of XP pure gonadal dysgenesis patients. (10459352) | Uehara S.... Yajima A. | 1999 | SRY |
| 34 | Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis. (9450909) | Doerk T.... Schmidtke J. | 1998 | SRY |
| 35 | Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations. (9678356) | Scherer G.... Midro A.T. | 1998 | SRY |
| 36 | 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. (9521592) | Domenice S.... Mendonca B.B. | 1998 | SRY |
| 37 | Association of mixed gonadal dysgenesis and non-classic 21-hydroxylase deficiency (9033792) | Del Pino O.... Chaussain J.L. | 1996 | CYP21A2 |
| 38 | XY gonadal dysgenesis and gonadoblastoma: a study in two sisters with a cryptic deletion of the Y chromosome involving the SRY gene. (7814028) | Barbosa A.S.... Moreira-Filho C.A. | 1995 | SRY |
| 39 | Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis. (7607640) | NordenskjAPld A.... Anvret M. | 1995 | WT1 |
| 40 | Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis (8085778) | Boucekkine C.... Chaabouni S. | 1994 | SRY |
| 41 | Intact sex determining region Y (SRY) in a patient with XY pure gonadal dysgenesis and a twin brother. (7951580) | Tsutsumi O.... Nakagome Y. | 1994 | SRY |
| 42 | HLA-A, B and DR antigens in patients with gonadal dysgenesis. (7834897) | FilipoviA8 B.... VukoviA8 J. | 1994 | TG |
| 43 | Mixed gonadal dysgenesis: clinical, cytogenetic, endo crinological, and histopathological findings in 16 patients. (8488868) | MAcndez J.P.... PAcrez-Palacios G. | 1993 | CGB5 |
| 44 | A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. (8105086) | Zeng Y.... Huang S. | 1993 | SRY |
| 45 | 46,XX pure gonadal dysgenesis with growth hormone def iciency and impaired 3 beta-hydroxysteroid dehydrogenase activity. (1339198) | Sills I.N.... Horlick M.N. | 1992 | HSD3BP4 |
| 46 | Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. (1415266) | Hawkins J.R.... Berkovitz G.D. | 1992 | SRY |
| 47 | Mutations in the conserved domain of SRY are uncommon in XY gonadal dysgenesis. (1487248) | Pivnick E.K.... Bishop C.E. | 1992 | SRY |
| 48 | The presence of the testicular determining sequence, SRY, in 46,XY females with gonadal dysgenesis (Swyer syndrome). (1750489) | Behzadian M.A.... McDonough P.G. | 1991 | SRY |
| 49 | A case of mixed gonadal dysgenesis: examination of chromosomes in various parts of the body (2347420) | Mori A.... Miura K. | 1990 | CGB5 |
| 50 | Bilateral gonadoblastoma producing steroid hormones i n a patient with 45,X/46,XY gonadal dysgenesis. (1702401) | Fukamatsu Y.... Fukuta T. | 1990 | CGB |
