Prospective study comparing HR-CGH and subtelomeric FISH for investigation of individuals with mental retardation and dysmorphic features and an update of a study using only HR-CGH
Author:
Funder
Ivan Nielsen Fond
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.20678/fullpdf
Reference43 articles.
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2. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies;Baker;Am J Med Genet,2002
3. The promise and pitfalls of telomere region-specific probes;Ballif;Am J Hum Genet,2000
4. Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q;Barber;Hum Genet,1998
5. Use of primed in situ labeling (PRINS) for the detection of telomeric deletions associated with mental retardation;Bonifacio;Cytogenet Cell Genet,2001
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4. A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology;Cytogenetic and Genome Research;2009
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