A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms-Reference-Cited by-同舟云学术

A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms

Published:2010-03 Issue:3 Volume:32 Page:248-252
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Coppola Antonietta,Striano Pasquale,Gimelli Stefania,Ciampa Clotilde,Santulli Lia,Caranci Ferdinando,Zuffardi Orsetta,Gimelli Giorgio,Striano Salvatore,Zara Federico

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

Reference11 articles.

1. Chromosome abnormalities and epilepsy;Elia;Epilepsia,2001

2. Epilepsies and chromosomal disorders;Gobbi,2002

3. Electro-clinical phenotypes of chromosome disorders associated with epilepsy in the absence of dysmorphism;Macleod;Brain Dev,2005

4. Duplication of 11p14.3-p15.1 in a mentally retarded proband and his mother detected by G-banding and confirmed by high-resolution CGH and BAC FISH;Wyandt;Exp Mol Pathol,2006

5. Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation;Fisher;Hum Genet,2002

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1. Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features;BRAIN;2017

2. Developmental neurogenetics and multimodal neuroimaging of sex differences in autism;Brain Imaging and Behavior;2016-01-19

3. A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene;American Journal of Medical Genetics Part A;2011-11-03