Published articles related to dup15q syndrome

June 1, 2000
The syndrome of inv dup (15): clinical, electroencephalographic, and imaging findings

Buoni S, Sorrentino L, Farnetani MA, Pucci L, Fois A

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March 1, 2000
Symptomatic generalized epilepsy associated with an inverted duplication of chromosome 15

Takeda Y, Baba A, Nakamura F, Ito M, Honma H, Koyama T

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March 1, 2000
Genetic studies in autistic disorder and chromosome 15

Bass MP, Menold MM, Wolpert CM, Donnelly SL, Ravan SA, Hauser ER, Maddox LO, Vance JM, Abramson RK, Wright HH, Gilbert JR, Cuccaro ML, DeLong GRPericak-Vance MA

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September 7, 1998
Autistic symptoms among children and young adults with isodicentric chromosome 15

Rineer S, Finucane B, Simon EW

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June 1, 1998
Autism and maternally derived aberrations of chromosome 15q

Schroer, R. J., Phelan, M. C., Michaelis, R. C., Crawford, E. C., Skinner, S. A.,Cuccaro, M., Simensen, R. J., Bishop, J., et al. 

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April 1, 1997
The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy

Battaglia A, Gurrieri F, Bertini E, Bellacosa A, Pomponi MG, Paravatou-Petsotas M, Mazza S, Neri G

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January 1, 1997
Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

Cook EH JrLindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E 

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M52 - CONVERGENT METHYLOMIC SIGNATURES BETWEEN AUTISM ASSOCIATED WITH DUPLICATIONS OF CHROMOSOME 15Q AND IDIOPATHIC AUTISM

Autism Spectrum Disorder (ASD) includes a spectrum of genetically and clinically complex neurodevelopmental disorders. Findings from recent discordant monozygotic twins and post-mortem brain studies suggest that altered epigeneticprocesses, including DNA methylation and histone acetylation, are involved in the etiology of ASD. This study presents, to our knowledge, the largest post-mortem genome-wide DNA methylation analyses of autism patients, including idiopathic ASD and chromosome 15q11.2-13.1 duplication syndrome (dup15q) carriers, and matched controls.

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Deregulation of synaptic plasticity in autism

C. Hansel

A puzzling observation in the study of autism spectrum disorder (ASD) in mouse models has been the deregulation of long-term synaptic depression (LTD), a form of experience-dependent synaptic plasticity, across brain areas and across syndromic and non-syndromic forms of autism. This review attempts to approach this phenomenon from a largely, but not exclusively, cerebellar perspective. Three potential consequences of LTD deregulation are discussed that are relevant for ASD phenotypes: resulting impairment of proper developmental synaptic pruning, impairment of motor coordination and motor learning, and impairment of the processing sensory input.

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Chapter 23 - Pharmacoepigenetics and Toxicoepigenetics in Neurodevelopmental Disorders

Nguyen Quoc VuongTran⁎†KunioMiyake⁎

Neurodevelopmental disorders (NDDs) are multifactorial diseases involving complex interactions between the environment and genetics. The prenatal period is recognized as one of the most sensitive stages for normal nervous system development.

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