Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene

Methylation of the hypoxanthine phosphoribosyltransferase locus on the human X chromosome: implications for X-chromosome inactivation.

1984 • 305 citations

Adrenoleukodystrophy: evidence for X linkage, inactivation, and selection favoring the mutant allele in heterozygous cells.

1981 • 275 citations

Lyonization and the lines of Blaschko

1985 • 234 citations

Primordial cell pool size and lineage relationships of five human cell types*

1973 • 210 citations

Carrier Detection in X-Linked Agammaglobulinemia by Analysis of X-Chromosome Inactivation

1987 • 159 citations

The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA.

1987 • 141 citations

X-Chromosome localization of the functional gene for the E1α subunit of the human pyruvate dehydrogenase complex

1989 • 136 citations

Abnormal X chromosomes in man: Origin, behavior and effects

1974 • 135 citations

?Cerebral? lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis

1988 • 103 citations

X chromosome inactivation mosaicism in the mouse

1971 • 92 citations

Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11.22

1989 • 92 citations

Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase

1986 • 90 citations

Women heterozygous for deficiency of the (p21 ? pter) region of the X chromosome are fertile

1977 • 88 citations

USE OF X CHROMOSOME INACTIVATION ANALYSIS TO ESTABLISH CARRIER STATUS FOR X-LINKED SEVERE COMBINED IMMUNODEFICIENCY

1988 • 49 citations

Biological Sciences: Numerology of Development

1972 • 46 citations

Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency

1987 • 44 citations

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

1971 • 32 citations