Associated Papers
Functional analysis of SRY variants in individuals with 46,XY differences of sex development.
Idris FP et al.
Molecular and Cellular Endocrinology, 2025
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.
Gomes NL et al.
Clinical Endocrinology, 2018
Case report of whole genome sequencing in the XY female: identification of a novel SRY mutation and revision of a misdiagnosis of androgen insensitivity syndrome.
De Sousa SM et al.
Bmc Endocrine Disorders, 2016
Human Sex Determination at the Edge of Ambiguity: INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR.
Racca JD et al.
The Journal of Biological Chemistry, 2016
Unique karyotype: mos 46,X,dic(X;Y)(p22.33;p11.32)/ 45,X/45,dic(X;Y)(p22.33;p11.32) in an Egyptian patient with Ovotesticular disorder of sexual development.
Mazen IM et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013
SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype.
Hersmus R et al.
Bmc Medical Genetics, 2012
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
Hersmus R et al.
Plos One, 2012
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
Knower KC et al.
Plos One, 2011
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 et al.
Hormone Research in Paediatrics, 2011
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 et al.
Bmc Medical Genetics, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
46,XY disorders of sex development (DSD).
Mendonca BB et al.
Clinical Endocrinology, 2009
Human SRY inhibits beta-catenin-mediated transcription.
Bernard P et al.
The International Journal of Biochemistry & Cell Biology, 2008
Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.
Paris F et al.
Fertility and Sterility, 2007
Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis.
Gimelli G et al.
European Journal of Human Genetics : Ejhg, 2007
A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies.
Gimelli G et al.
American Journal of Medical Genetics. Part A, 2006
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 et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Molecular and cytogenetic characterization of a non-mosaic isodicentric Y chromosome in a patient with Klinefelter syndrome.
Heinritz W et al.
American Journal of Medical Genetics. Part A, 2005
A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency.
Correa RV et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients.
Domenice S et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2004
The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9].
Harley VR et al.
Endocrine Reviews, 2003
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 et al.
Journal of Molecular Medicine (berlin, Germany), 2002
Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.
Mitchell CL et al.
Molecular Genetics and Metabolism, 2002
Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father.
Jordan BK et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Human sex reversal due to impaired nuclear localization of SRY. A clinical correlation.
Li B et al.
The Journal of Biological Chemistry, 2001
Clinical expression and SRY gene analysis in XY subjects lacking gonadal tissue.
Zenteno JC et al.
American Journal of Medical Genetics, 2001
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 et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
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 et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal.
Okuhara K et al.
Journal of Human Genetics, 2000
Sry and Sox9: mammalian testis-determining genes.
Koopman P
Cellular and Molecular Life Sciences : Cmls, 1999
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 et al.
Human Genetics, 1998
Recurrence of a nonsense mutation in the conserved domain of SRY in a Brazilian patient with 46,XY gonadal dysgenesis.
Assumpção JG et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0