Patterns of X chromosome inactivation in the rett syndrome

Detection of specific sequences among DNA fragments separated by gel electrophoresis

1975 • 33,059 citations

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

1983 • 26,063 citations

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases

1983 • 1,481 citations

ITALIAN AND ENGLISH SYSTEMS OF MEDICAL INSTRUCTION.

1824 • 665 citations

X‐CHROMOSOME INACTIVATION AND DEVELOPMENTAL PATTERNS IN MAMMALS

1972 • 657 citations

Clonal analysis using recombinant DNA probes from the X-chromosome.

1987 • 439 citations

Use of Restriction Fragment Length Polymorphisms to Determine the Clonal Origin of Human Tumors

1985 • 387 citations

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

Differential methylation of hypoxanthine phosphoribosyltransferase genes on active and inactive human X chromosomes.

1984 • 226 citations

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

1970 • 209 citations

Expression of the Gene Defect in X-Linked Agammaglobulinemia

1986 • 177 citations

Active X chromosome DNA is unmethylated at eight CCGG sites clustered in a guanine-plus-cytosine-rich island at the 5' end of the gene for phosphoglycerate kinase.

1986 • 164 citations

X-linked dominant inherited diseases with lethality in hemizygous males

1983 • 163 citations

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

1987 • 159 citations

Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation.

1987 • 154 citations

Nonrandom X chromosome inactivation in B cells from carriers of X chromosome-linked severe combined immunodeficiency.

1988 • 125 citations

ALLELIC EXCLUSION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN PLATELETS AND T LYMPHOCYTES FROM A WISKOTT-ALDRICH SYNDROME CARRIER

1980 • 95 citations

X-Chromosome inactivation in the Wiskott-Aldrich syndrome: A marker for detection of the carrier state and identfication of cell lineages expressing the gene defect

1989 • 94 citations

Selection against lethal alleles in females heterozygous for incontinentia pigmenti.

1989 • 76 citations

Genetic Aspects of Rett Syndrome

1988 • 60 citations

Extensive DNA polymorphism at the factor XIIIa (F13A) locus and linkage to HLA.

1988 • 45 citations

Computerized Real-Time Neuromuscular Sonography: A New Application, Techniques and Methods

1988 • 34 citations

Rett syndrome-search for genetic markers

1986 • 23 citations