The Behavioral Phenotype inMECP2Duplication Syndrome: A Comparison With Idiopathic Autism-Reference-Cited by-同舟云学术

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The Behavioral Phenotype inMECP2Duplication Syndrome: A Comparison With Idiopathic Autism

Published:2012-11-20 Issue:1 Volume:6 Page:42-50
ISSN:1939-3792
Container-title:Autism Research
language:en
Short-container-title:Autism Res

Author:

Peters Sarika U.,Hundley Rachel J.,Wilson Amy K.¹,Warren Zachary,Vehorn Alison¹,Carvalho Claudia M.B.²,Lupski James R.²,Ramocki Melissa B.³

Affiliation:

1. Vanderbilt Kennedy Center for Research on Human Development; Vanderbilt University; Nashville; Tennessee

2. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston; Texas

3. Department of Pediatrics, Section of Pediatric Neurology and Developmental Neuroscience; Baylor College of Medicine; Houston; Texas

Publisher

Wiley

Subject

Genetics (clinical),Neurology (clinical),General Neuroscience

Reference38 articles.

1. Real-time quantitative PCR as a routine method for screening large rearrangements in Rett syndrome: Report of one case of MECP2 deletion and one case of MECP2 duplication;Ariani;Human Mutation,2004

2. Convergent validity of the Mullen Scales of Early Learning and the differential ability scales in children with autism spectrum disorders;Bishop;American Association on Intellectual and Developmental Disabilities,2011

3. Identification of MeCP2 mutations in a series of females with autistic disorder;Carney;Pediatric Neurology,2003

4. Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome;Carvalho;Nature Genetics,2011

5. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching;Carvalho;Human Molecular Genetics,2009

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3. Dysregulation of mTOR signaling mediates common neurite and migration defects in both idiopathic and 16p11.2 deletion autism neural precursor cells;eLife;2024-03-25

4. Sensory experiences questionnaire unravels differences in sensory profiles between MECP2‐related disorders;Autism Research;2024-03-03

5. MECP2-related disorders while gene-based therapies are on the horizon;Frontiers in Genetics;2024-02-12

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