Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature-Reference-Cited by-同舟云学术

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Heterozygous deletion of CHL1 gene: Detailed array-CGH and clinical characterization of a new case and review of the literature

Published:2014-11 Issue:11-12 Volume:57 Page:626-629
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Tassano Elisa,Biancheri Roberta,Denegri Laura,Porta Simona,Novara Francesca,Zuffardi Orsetta,Gimelli Giorgio,Cuoco Cristina

Funder

Cinque per mille dell’IRPEF- Finanziamento della ricerca sanitaria

Finanziamento Ricerca Corrente, Ministero Salute

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference9 articles.

1. Microarray based analysis of an inherited terminal 3p26.3 deletion, containing only the CHL1 gene, from a normal father to his two affected children;Cuoco;Orphanet J Rare Dis,2011

2. Close homolog of L1 modulates area-specific neuronal positioning and dendrite orientation in the cerebral cortex;Demyanenko;Neuron,2004

3. Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals;DeScipio;Am J Med Genet A,2008

4. CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior;Frints;Hum Mol Genet,2003

5. A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay;Girirajan;Nat Genet,2010

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