Del 1p36 syndrome: a newly emerging clinical entity
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference31 articles.
1. Molecular mechanisms for constitutional chromosomal rearrangements in humans;Shaffer;Annu Rev Genet,2000
2. The highest gene concentrations in the human genome are in the telomeric bands of metaphase chromosomes;Saccone;Proc Natl Acad Sci USA,1992
3. Development and clinical application of an innovative fluorescence in situ hybridisation technique which detects submicroscopic rearrangements involving telomeres;Knight;Eur J Hum Genet,1997
4. Use of a set of highly polymorphic minisatellite probes for the identification of cryptic 1p36.3 deletions in a large collection of patients with idiopathic mental retardation;Giraudeau;J Med Genet,2001
5. Monosomy 1pter;Yunis;Hum Genet,1981
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