Role of Cytogenetics and Molecular Cytogenetics in the Diagnosis of Genetic Imbalances
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Pediatrics, Perinatology and Child Health
Reference29 articles.
1. Detection of deletions and cryptic translocations in Miller-Dieker syndrome by in situ hybridization;Kuwano;Am J Hum Genet,1991
2. Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome;Nickerson;Am J Hum Genet,1995
3. Simultaneous, multilocus FISH analysis for detection of microdeletions in the diagnostic evaluation of developmental delay and mental retardation;Ligon;Am J Hum Genet,1997
4. Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres;Knight;Eur J Hum Genet,1997
5. Perfect endings: A review of subtelomeric probes and their use in clinical diagnosis;Knight;J Med Genet,2000
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