Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay
Open Access
- 18 July 2001
- journal article
- research article
- Published by Springer Nature in European Journal of Human Genetics
- Vol. 9 (7), 527-532
- https://doi.org/10.1038/sj.ejhg.5200670
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Perfect endings: a review of subtelomeric probes and their use in clinical diagnosisJournal of Medical Genetics, 2000
- Measurement of locus copy number by hybridisation with amplifiable probesNucleic Acids Research, 2000
- Subtle chromosomal rearrangements in children with unexplained mental retardationThe Lancet, 1999
- Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: Incidence, genetic variation, and stabilityAmerican Journal of Medical Genetics, 1999
- A complete set of human telomeric probes and their clinical applicationNature Genetics, 1996
- The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardationNature Genetics, 1995
- DETECTION OF BREAKPOINTS IN SUBMICROSCOPIC CHROMOSOMAL TRANSLOCATION, ILLUSTRATING AN IMPORTANT MECHANISM FOR GENETIC DISEASEThe Lancet, 1989
- Aetiology of mild mental retardation.Archives of Disease in Childhood, 1988
- Severe Mental Retardation in a Swedish County – II. Etiologic and Pathogenetic Aspects of Children Born 1959–1970Neuropediatrics, 1977
- An etiological survey of the severely retarded Hertfordshire children who were born between January 1, 1965 and December 31, 1967American Journal of Medical Genetics, 1977