Agenesis of corpus callosum, ocular, and skeletal anomalies (X-linked dominant aicardi's syndrome) in a girl with balanced X/3 translocation

Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse

1975 • 783 citations

Preferential expression of the maternally derived X chromosome in the mouse yolk sac

1977 • 328 citations

Analysis of the β-δ-globin gene loci in normal and hb lepore DNA: Direct determination of gene linkage and intergene distance

1978 • 260 citations

Regional assignment of the steroid sulfatase—X-linked ichthyosis locus: Implications for a noninactivated region on the short arm of human X chromosome

1979 • 150 citations

Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223

1980 • 148 citations

Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21.

1981 • 147 citations

Organization of human δ- and β-globin genes in cellular DNA and the presence of intragenic inserts

1978 • 141 citations

A gene controlling H-Y antigen on the X chromosome

1980 • 100 citations

Mosaicism of peripheral blood lymphocyte populations in females heterozygous for the Lesch-Nyhan mutation

1974 • 85 citations

Preferential X inactivation in human placenta membranes: Is the paternal X inactive in early embryonic development of female mammals?

1978 • 81 citations

Genetic etiology for monozygotic twinning.

1978 • 75 citations

Regional assignment of the gene locus for steroid sulfatase

1980 • 57 citations

The Aicardi Syndrome

1972 • 50 citations

[The Aicardi syndrome].

1982 • 49 citations

Aicardi syndrome in a male infant

1980 • 43 citations

Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1→q24 in different offspring

1981 • 39 citations

[Spasma-in-flexion syndrome, callosal agenesis, chorioretinal abnormalities].

1969 • 38 citations

PNEUMOGRAPHIC DEMONSTRATION OF SUB-EPENDYMAL HETEROTOPIC CORTICAL GRAY MATTER IN CHILDREN

1967 • 23 citations

Steroid sulfatase activity in cultured fibroblasts of XX males

1981 • 21 citations

X-chromosome inactivation and selection in somatic cells.

1976 • 15 citations

A simple procedure for obtaining autoradiographs of G-banded chromosomes

1979 • 7 citations