The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.
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The Role of Epilepsy and Epileptiform EEGs in Autism Spectrum DisordersGabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: a potential model of autism spectrum disorderThe inv dup (15) or idic (15) syndrome (Tetrasomy 15q)Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes.Common neurological co-morbidities in autism spectrum disorders.A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment.A single-tube quantitative high-resolution melting curve method for parent-of-origin determination of 15q duplications.Epigenetic regulation of neuronal dendrite and dendritic spine developmentGβ5-RGS complexes are gatekeepers of hyperactivity involved in control of multiple neurotransmitter systems.Increased copy number for methylated maternal 15q duplications leads to changes in gene and protein expression in human cortical samplesTetrasomy 15q11-q13 diagnosed by FISH in a patient with autistic disorderFurther delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.Genetic testing in autism: how much is enough?Identification of a distinct developmental and behavioral profile in children with Dup15q syndromeFailure of neuronal homeostasis results in common neuropsychiatric phenotypes.The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature.A nine-month-old boy with isodicentric chromosome 15: a case report.Medical conditions in autism spectrum disordersLessons learned from studying syndromic autism spectrum disorders.Angelman Syndrome due to familial translocation: unexpected additional results characterized by Microarray-based Comparative Genomic Hybridization.Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity.Searching for autism symptomatology in children with epilepsy--a new approach to an established comorbidity.Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.Social responsiveness and competence in Prader-Willi syndrome: direct comparison to autism spectrum disorder.Spectrum of epilepsy and electroencephalogram patterns in idic (15) syndrome.Avoiding a second amniocentesis to corroborate prenatal diagnosis by using refrigerated samples.Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene.Karyotype/phenotype correlation in partial trisomies of the long arm of chromosome 16: Case report and review of literature
P2860
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P2860
The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
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2005年论文
@zh-cn
name
The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.
@ast
The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.
@en
type
label
The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.
@ast
The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.
@en
prefLabel
The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.
@ast
The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.
@en
P1476
The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.
@en
P2093
Agatino Battaglia
P304
P356
10.1016/J.BRAINDEV.2004.08.006
P577
2005-04-22T00:00:00Z