A cytogenetic survey in Menkes disease: implications for the detection of chromosomal rearrangements in X linked disorders.
Open Access
- 1 April 1993
- journal article
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (4) , 314-315
- https://doi.org/10.1136/jmg.30.4.314
Abstract
No abstract availableThis publication has 17 references indexed in Scilit:
- Positional cloning: Let's not call it reverse anymoreNature Genetics, 1992
- Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X‐autosome translocations: A review of 122 casesAmerican Journal of Medical Genetics, 1992
- On the parental origin of de novo mutation in man.Journal of Medical Genetics, 1991
- Report of the committee on clinical disorders, chromosome aberrations and uniparental disomyCytogenetic and Genome Research, 1991
- Clinical expression of Menkes syndrome in femalesClinical Genetics, 1990
- The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27ß methylation analysisGenetics Research, 1990
- Menkes syndrome in a girl with X‐autosome translocationAmerican Journal of Medical Genetics, 1987
- Constitutional karyotypes in retinoblastomaOphthalmic Paediatrics and Genetics, 1987
- Contiguous gene syndromes: A component of recognizable syndromesThe Journal of Pediatrics, 1986
- High resolution chromosomes from first trimester trophoblast culturesPrenatal Diagnosis, 1985