TY  - JOUR
A1  - Freitag, Christine M.
A1  - Staal, Wouter
A1  - Klauck, Sabine M.
A1  - Duketis, Eftichia
A1  - Waltes, Regina
T1  - Genetics of autistic disorders : review and clinical implications
T2  - European child & adolescent psychiatry
N2  - Twin and family studies in autistic disorders (AD) have elucidated a high heritability of AD. In this literature review, we will present an overview on molecular genetic studies in AD and highlight the most recent findings of an increased rate of copy number variations in AD. An extensive literature search in the PubMed database was performed to obtain English published articles on genetic findings in autism. Results of linkage, (genome wide) association and cytogenetic studies are presented, and putative aetiopathological pathways are discussed. Implications of the different genetic findings for genetic counselling and genetic testing at present will be described. The article ends with a prospectus on future directions. Keywords: Autistic disorder , Linkage , Whole genome association , Copy number variation , Mutation
KW  - Autistic disorder
KW  - Linkage
KW  - Whole genome association
KW  - Copy number variation
KW  - Mutation
Y1  - 2010
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/20402
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30-65810
SN  - 1435-165X
SN  - 1018-8827
N1  - Open Access: This article is distributed under the terms of the Creative Commons Attribution Noncommercial License which permits any noncommercial use, distribution, and reproduction in any medium, provided the original author(s) and source are credited
VL  - 19
IS  - 3
SP  - 169
EP  - 178
PB  - Steinkopff ; Springer
CY  - Darmstadt ; Berlin ; Heidelberg
ER  -