Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.

Gene Action in the X-chromosome of the Mouse (Mus musculus L.)

Mary F. Lyon · Nature · 1961 · 4K citations

Life Sciences, Genetics, Molecular Genetics +12

A familial disorder of uric acid metabolism and central nervous system function

Michael Lesch, William L. Nyhan · The American Journal of Medicine · 1964 · 1.5K citations

Life Sciences, Neurology, Neuroscience +9

DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS

Ronald G. Davidson, Harold M. Nitowsky, Barton Childs · Proceedings of the National Academy of Sciences · 1963 · 369 citations

Life Sciences, Cell Biology, Genetics +7

Mammalian X-Chromosome Action: Inactivation Limited in Spread and in Region of Origin

Liane B. Russell · Science · 1963 · 246 citations

Life Sciences, Genetics, Molecular Genetics +10

Hemizygous Expression of Glucose-6-Phosphate Dehydrogenase in Erythrocytes of Heterozygotes for the Lesch-Nyhan Syndrome

William L. Nyhan, Bohdan Bakay, James D. Connor et al. · Proceedings of the National Academy of Sciences · 1970 · 209 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15