Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation

Genetic evidence equating SRY and the testis-determining factor

Philippe Berta, J Hawkins, Andrew Sinclair et al. · Nature · 1990 · 984 citations

Genetic Analysis, Genetic Testing, Genetics +6

DNA Binding Activity of Recombinant SRY from Normal Males and XY Females

Vincent R. Harley, David I. Jackson, Patrick Hextall et al. · Science · 1992 · 456 citations

Spermatogenesis, Genetic Testing, Cytogenetics +21

Gonadal Determination and Adrenal Development Are Regulated by the Orphan Nuclear Receptor Steroidogenic Factor-1, in a Dose-Dependent Manner

John C. Achermann, Masafumi Ito, Utku Arman Örün et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 296 citations · Full text

Genetics, Molecular Genetics, Reproductive Biology +17

A familial mutation in the testis-determining gene SRY shared by both sexes

RalfJ. J�ger, Vincent R. Harley, RudolfA. Pfeiffer et al. · Human Genetics · 1992 · 155 citations

Genetic Analysis, Genetic Testing, Developmental Biology +12

Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain

Nabeel A. Affara, I.Jennifer Chalmers, M.A. Ferguson‐Smith · Human Molecular Genetics · 1993 · 106 citations

Open Reading Frame, Developmental Biology, Genetic Disorder +15