Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Molecular Cloning: A Laboratory Manual

2001 • 133,517 citations

Molecular cloning: A laboratory manual

1990 • 85,659 citations

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation

1994 • 1,604 citations

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

1994 • 857 citations

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

1993 • 787 citations

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support

1989 • 747 citations

Illegitimate transcription: transcription of any gene in any cell type.

1989 • 647 citations

A Dosage Sensitive Locus at Chromosome Xp21 Is Involved in Male to Female Sex Reversal

1995 • 541 citations

Nonsense mutations in the human beta-globin gene affect mRNA metabolism.

1988 • 229 citations

Mutations in the connexin 32 gene in X-linked dominant Charcot- Marie - Tooth disease (CMTX1)

1994 • 175 citations

Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries.

1991 • 160 citations

Endocrinology in Preadolescents and Adolescents

1978 • 124 citations

Analyis of factor VIII mRNA reveals defects in everyone of 28 haemophilia A patients

1993 • 123 citations

Analysis of cosmids using linearization by phage lambda terminase

1985 • 105 citations

A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene

1993 • 100 citations

Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

1987 • 93 citations

Are cysteine-rich and COOH-terminal domains of dystrophin critical for sarcolemmal localization?

1992 • 47 citations

Isolation of the human Xp21 glycerol kinase gene by positional cloning

1993 • 43 citations

A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes

1992 • 38 citations

Yeast Artificial Chromosome Cloning in the Glycerol Kinase and Adrenal Hypoplasia Congenita Region of Xp21

1993 • 37 citations

Failure to induce puberty in a man with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism by pulsatile administration of low-dose gonadotropin-releasing hormone

1987 • 28 citations

A computer program package for restriction map analysis and manipulation

1986 • 26 citations

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia

1988 • 21 citations

Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci

1989 • 19 citations

Familial deletion of Xp21.2 with glycerol kinase deficiency and congenital adrenal hypoplasia

1987 • 12 citations

Gene deletion causing adrenal hypoplasia congenita and hypogonadotrophic hypogonadism

1994 • 10 citations