Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1987 • 64,270 citations

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

1987 • 45,673 citations

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

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

1961 • 3,881 citations

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation.

1992 • 1,686 citations

A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

1991 • 1,469 citations

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

1997 • 918 citations

X-chromosome inactivation: counting, choice and initiation

2001 • 678 citations

Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age

1996 • 453 citations

Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age

1996 • 452 citations

Localization of the X inactivation centre on the human X chromosome in Xq13

1991 • 380 citations

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

1997 • 290 citations

Turner syndrome: the case of the missing sex chromosome

1993 • 166 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

Human Cytogenetics

1992 • 129 citations

Evolutionary conservation of possible functional domains of the human and murine XIST genes

1993 • 107 citations

Ullrich‐Turner syndrome with a small ring X chromosome and presence of mental retardation

1992 • 95 citations

Three patients with ring (X) chromosomes and a severe phenotype.

1993 • 82 citations

Identification and characterization of the human XIST gene promoter: implications for models of X chromosome inactivation

1997 • 79 citations

Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations.

1994 • 77 citations

Position of the human X inactivation center on Xq

1979 • 62 citations

Ring chromosome X in a child with manifestations of Kabuki syndrome

1997 • 53 citations

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes

1993 • 52 citations

45X/46X,r(X) with syndactyly and severe mental retardation

1987 • 51 citations

Analysis of the origin of Turner's syndrome using polymorphic DNA probes.

1991 • 48 citations

Molecular Characterization of Tiny Ring X Chromosomes from Females with Functional X Chromosome Disomy and Lack of cis X Inactivation

1995 • 46 citations

Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes

1992 • 41 citations

Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis.

1996 • 39 citations

Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.

1998 • 39 citations

Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype

2000 • 38 citations

A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.

1994 • 35 citations

Social, communicational, and behavioral deficits associated with ring X Turner syndrome

1999 • 34 citations

Severe phenotypes associated with inactive ring X chromosomes

2000 • 28 citations

Pigmentary mosaicism in hypomelanosis of Ito

1998 • 28 citations

Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation.

1995 • 24 citations

Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization

1993 • 24 citations

Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lackingXIST

1997 • 23 citations

Characterization of a supernumerary small marker X chromosome in two females with similar phenotypes

1998 • 19 citations

Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study.

1998 • 15 citations

Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development

2000 • 15 citations

Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism

1998 • 15 citations

Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, + r(X)

1997 • 13 citations

22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125–DXS95 in human Xq12–q21.31

1998 • 7 citations