Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

Autor: Liu Dahai, Dorrani Naghmeh, Driscoll Jennette, Wang Nicholas J, Wu David J, Sigman Marian, Schanen N Carolyn

Publikováno v: Molecular Cytogenetics, Vol 2, Iss 1, p 27 (2009)

Abstract Autism spectrum disorders have been associated with maternally derived duplications that involve the imprinted region on the proximal long arm of chromosome 15. Here we describe a boy with a chromosome 15 duplication arising from a 3:1 segre

Externí odkaz: https://doaj.org/article/ac4c8752f4b842bcba348ed65013a481

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

Autor: Pitcher, Meagan R, Herrera, José A, Buffington, Shelly A, Kochukov, Mikhail Y, Merritt, Jonathan K, Fisher, Amanda R, Schanen, N Carolyn, Costa-Mattioli, Mauro, Neul, Jeffrey L

Publikováno v: Pitcher, MR; Herrera, JA; Buffington, SA; Kochukov, MY; Merritt, JK; Fisher, AR; et al.(2015). Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene. Human Molecular Genetics, 24(9), 2662-2672. doi: 10.1093/hmg/ddv030. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/4hm9n3xs
Human molecular genetics, vol 24, iss 9

© The Author 2015. Rett syndrome (RTT) is a severe neurodevelopmental disorder that is usually caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). Four of the eight common disease causing mutations in MECP2 are nonsense mutations and are re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::eac5b8c1dd5eb247d3f169ea70d1e3d0
http://www.escholarship.org/uc/item/4hm9n3xs

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