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
Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.
Bashamboo A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
Human sex-determination and disorders of sex-development (DSD).
Bashamboo A et al.
Seminars in Cell & Developmental Biology, 2015
Gene mutations associated with anomalies of human gonad formation.
Bashamboo A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013
Understanding the genetic aetiology in patients with XY DSD.
Ahmed SF et al.
British Medical Bulletin, 2013
Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development.
Ledig S et al.
European Journal of Endocrinology, 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
Clinical and genetic findings of five patients with WT1-related disorders.
Andrade JG et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 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
Identification of a new nonsense mutation (Tyr129Stop) of the SRY gene in a newborn infant with XY sex-reversal.
Giuffrè M et al.
American Journal of Medical Genetics. Part A, 2004
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 et al.
Molecular Human Reproduction, 2004
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
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 de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function.
Brown S et al.
American Journal of Human Genetics, 1998
True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene.
Maier EM et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 0