Description and molecular analysis of SRY and AR genes in a patient with 46,XY pure gonadal dysgenesis (Swyer syndrome)

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

Andrew Sinclair, Philippe Berta, Mark S. Palmer et al. · Nature · 1990 · 3.3K citations

Life Sciences, Genetics, Molecular Genetics +13

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

Helen Skaletsky, Tomoko Kuroda-Kawaguchi, Patrick Minx et al. · Nature · 2003 · 2.2K citations

Life Sciences, Genetics, Molecular Genetics +11

Assignment of an autosomal sex reversa– locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3–q25.1

Niels Tommerup, W. Schempp, Peter Meinecke et al. · Nature Genetics · 1993 · 194 citations

Life Sciences, Genetics, Molecular Genetics +12

Dysgenesis of testicular and streak gonads in the syndrome of mixed gonadal dysgenesis: Perspective derived from a clinicopathologic analysis of twenty-one cases

Stanley J. Robboy, Theodore T. Miller, Patricia K. Donahoe et al. · Human Pathology · 1982 · 168 citations

Medicine, Endocrinology, Urology +17

Clinical and Pathologic Spectrum of 46,XY Gonadal Dysgenesis

Gary D. Berkovitz, Patricia Y. Fechner, Howard W. Zacur et al. · Medicine · 1991 · 131 citations

Medicine, Developmental Biology, Genetics +17