Interstitial deletion in the ?critical region? of the long arm of the X chromosome in a mentally retarded boy and his normal mother

Agenesis of the corpus callosum: A study of the frequency of associated malformations

1979 • 160 citations

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

1980 • 148 citations

Abnormal X chromosomes in man: Origin, behavior and effects

1974 • 135 citations

X inactivation in man: a woman with t(Xq--;12q+).

1973 • 131 citations

Cleft lip±cleft palate: An overview of the literature and an analysis of Danish cases born between 1941 and 1968

1980 • 123 citations

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

1982 • 101 citations

Structural anomalies of the X chromosome and inactivation center

1981 • 82 citations

X chromosome constitution and the human female phenotype

1980 • 79 citations

Genetic etiology for monozygotic twinning.

1978 • 75 citations

Position of the human X inactivation center on Xq

1979 • 62 citations

Spreading of inactivation in an (X;14) translocation

1978 • 44 citations

Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation

1980 • 41 citations

Deletion mapping of the human X chromosome

2009 • 33 citations

X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter

1981 • 29 citations

The association between maternal influenza, drug consumption and oral clefts

1975 • 28 citations

A possible exception to the critical region hypothesis.

1981 • 22 citations

Inactivation centers in the human X chromosome.

1982 • 14 citations

Translocation t(X;1) and the ?critical region hypothesis?

1982 • 12 citations