A first-generation X-inactivation profile of the human X chromosome

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

Gene Action in the X-chromosome of the Mouse (Mus musculus L.)

1961 • 3,881 citations

Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome

1998 • 2,163 citations

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

1997 • 918 citations

New Goals for the U.S. Human Genome Project: 1998-2003

1998 • 848 citations

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

1991 • 848 citations

A Physical Map of 30,000 Human Genes

1998 • 723 citations

X‐CHROMOSOME INACTIVATION AND DEVELOPMENTAL PATTERNS IN MAMMALS

1972 • 657 citations

THE NORMAL HUMAN FEMALE AS A MOSAIC OF X-CHROMOSOME ACTIVITY: STUDIES USING THE GENE FOR G-6-PD-DEFICIENCY AS A MARKER

1962 • 503 citations

Homologous ribosomal protein genes on the human X and Y chromosomes: Escape from X inactivation and possible implications for turner syndrome

1990 • 390 citations

DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS

1963 • 369 citations

A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy

1995 • 307 citations

ZFX has a gene structure similar to ZFY, the putative human sex determinant, and escapes X inactivation

1989 • 296 citations

A proposed path by which genes common to mammalian X and Y chromosomes evolve to become X inactivated

1998 • 196 citations

Expression of Genes from the Human Active and Inactive X Chromosomes

1997 • 188 citations

Escape from X inactivation in human and mouse

1995 • 187 citations

Heterogeneous gene expression from the inactive X chromosome: An X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others

1999 • 158 citations

Mosaic Expression of Dystrophin in Symptomatic Carriers of Duchenne's Muscular Dystrophy

1989 • 141 citations

Isolation, physical mapping, and Northern analysis of the X-linked human gene encoding methyl CpG-binding protein, MECP2

1996 • 141 citations

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

1989 • 136 citations

Differential expression of steroid sulphatase locus on active and inactive human X chromosome

1982 • 135 citations

The Spreading of X Inactivation into Autosomal Material of an X;autosome Translocation: Evidence for a Difference between Autosomal and X-Chromosomal DNA

1998 • 130 citations

X-chromosome inactivation may explain the difference in viability of XO humans and mice

1991 • 128 citations

Stabilization and Localization of Xist RNA are Controlled by Separate Mechanisms and are Not Sufficient for X Inactivation

1998 • 98 citations

Stability of X Chromosomal Inactivation in Human Somatic Cells

1972 • 94 citations

Evolution of the pseudoautosomal boundary in old world monkeys and great apes

1990 • 90 citations

Localized Derepression on the Human Inactive X Chromosone in Mouse-Human Cell Hybrids.

1975 • 85 citations

Polymorphic X-Chromosome Inactivation of the Human TIMP1 Gene

1999 • 78 citations

A human pseudoautosomal gene, ADP/ATP translocase, escapes X–inactivation whereas a homologue on Xq is subject to X–inactivation

1993 • 76 citations

X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse

1996 • 76 citations

Chromosomal basis of X chromosome inactivation: Identification of a multigene domain in Xp11.21-p11.22 that escapes X inactivation

1998 • 76 citations

Reactivation of inactive X‐linked genes

1994 • 67 citations

Conservation and reorganization of loci on the mammalian X chromosome: A molecular framework for the identification of homologous subchromosomal regions in man and mouse

1988 • 65 citations

Gene dosage in the evolution and function of mammalian sex chromosomes

1998 • 63 citations

Characterization ofCxorf5(71-7A), a Novel Human cDNA Mapping to Xp22 and Encoding a Protein Containing Coiled-Coil α-Helical Domains

1998 • 61 citations

Molecular cytological differentiation of active from inactive X domains in interphase: implications for X chromosome inactivation

1989 • 60 citations

Three genes that escape X chromosome inactivation are clustered within a 6 Mb YAC contig and STS map in Xp11.21-p11.22

1995 • 59 citations

The IL-9 receptor gene, located in the Xq/Yq pseudoautosomal region, has an autosomal origin, escapes X inactivation and is expressed from the Y

1997 • 57 citations

Isolation of a new gene from the distal short arm of the human X chromosome that escapes X-inactivation

1992 • 56 citations

X chromosome inactivation of the human TIMP gene

1990 • 51 citations

Inactivation of the Zfx gene on the mouse X chromosome.

1991 • 51 citations

Evolutionary Features of the 4-Mb Xq21.3 XY Homology Region Revealed by a Map at 60-kb Resolution

1997 • 51 citations

The origin and loss of the ubiquitin activating enzyme gene on the mammalian Y chromosome

1998 • 47 citations

Isolation of new genes in distal Xq28: transcriptional map and identification of a human homologue of the ARD1 N-acetyl transferase of Saccharomyces cerevisiae

1994 • 45 citations

Reactivation of XIST in normal fibroblasts and a somatic cell hybrid: Abnormal localization of XIST RNA in hybrid cells

1998 • 44 citations

A novel pseudoautosomal gene encoding a putative GTP-binding protein resides in the vicinity of the Xp/Yp telomere

1998 • 39 citations

Directed isolation of human genes that escape X inactivation

1992 • 39 citations

A novel pseudoautosomal human gene encodes a putative protein similar to Ac-like transposases

1999 • 35 citations

The X chromosome of marsupials shares a highly conserved region with eutherians

1991 • 34 citations

Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.

1996 • 30 citations

Differential Expression Pattern of XqPAR-Linked Genes SYBL1 and IL9R Correlates with the Structure and Evolution of the Region

1997 • 27 citations

Dystrophin analysis in clonal myoblasts derived from a Duchenne muscular dystrophy carrier.

1989 • 26 citations

Molecular and Genetic Studies of Human X Chromosome Inactivation

1993 • 25 citations

An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new CpG islands of the human X chromosome

1992 • 22 citations

A High-Resolution Interval Map of the q21 Region of the Human X Chromosome

1995 • 21 citations

Escape from X Inactivation of Two New Genes Associated with DXS6974E and DXS7020E

1997 • 17 citations

Pregnancy in a patient with 47,XX,i(Xq) karyotype.

1982 • 8 citations

Somatic and intellectual development in a patient with 47,XX,psu dic(X)(p11.2) chromosome constitution

1989 • 1 citations