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
Open Access
- 1 January 2002
- journal article
- case report
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 10 (1) , 44-51
- https://doi.org/10.1038/sj.ejhg.5200757
Abstract
No abstract availableKeywords
This publication has 39 references indexed in Scilit:
- Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes.Journal of Medical Genetics, 1998
- 22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125–DXS95 in human Xq12–q21.31Gene, 1998
- Imprinting moves to the centreNature Genetics, 1996
- Molecular Characterization of Tiny Ring X Chromosomes from Females with Functional X Chromosome Disomy and Lack of cis X InactivationGenomics, 1995
- 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.Journal of Medical Genetics, 1995
- A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.Journal of Medical Genetics, 1994
- Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridizationAmerican Journal of Medical Genetics, 1993
- Turner syndrome: the case of the missing sex chromosomeTrends in Genetics, 1993
- Analysis of the origin of Turner's syndrome using polymorphic DNA probes.Journal of Medical Genetics, 1991
- A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosomeNature, 1991