Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, McKusick) is at Xq28, distal to the G6PD locus

Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation.

1980 • 156 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

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

Two human X-autosome translocations identified by autoradiography and fluorescence.

1972 • 60 citations

A New probably X-Linked Inherited Syndrome:Congenital Muscular Torticollis, Multiple Keloids Cryptorchidism and Renal Dysplasia

1968 • 38 citations

Possible inactivation of part of chromosome 13 due to 13qXp translocation associated with retinoblastoma

1982 • 34 citations

Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X; autosome translocation

1982 • 31 citations

Mental retardation in association with a balanced X‐autosome translocation and random inactivation of the X chromosomes

1980 • 23 citations

Bilateral Retinoblastoma with a 13qXp Translocation

1980 • 22 citations

CHROMOSOMAL ABNORMALITIES IN MENDELIAN DISORDERS

1982 • 12 citations

H‐Y antigen expression in patients with X‐autosomal translocations and gonadal dysgenesis

1982 • 10 citations

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