An association analysis of microsatellite markers across the Prader-Willi/Angelman critical region on chromosome 15 (q11-13) and autism spectrum disorder

2005 ◽  
Vol 137B (1) ◽  
pp. 25-28 ◽  
Author(s):  
Sarah Curran ◽  
Sian Roberts ◽  
Simon Thomas ◽  
Marijcke Veltman ◽  
Josie Browne ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Microsatellite Markers ◽  
Association Analysis ◽  
Critical Region ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Chromosome 15

scholarly journals An association analysis of candidate genes on chromosome 15 q11–13 and autism spectrum disorder

2006 ◽  
Vol 11 (8) ◽  
pp. 709-713 ◽  
Author(s):  
S Curran ◽  
J Powell ◽  
B M Neale ◽  
K Dworzynski ◽  
T Li ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Candidate Genes ◽  
Association Analysis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Chromosome 15

Resequencing and association analysis of GAP43 with autism spectrum disorder and schizophrenia in a Japanese population

2021 ◽  
Vol 82 ◽  
pp. 101729
Author(s):  
Reza K. Arta ◽  
Yuichiro Watanabe ◽  
Emiko Inoue ◽  
Yoshihiro Nawa ◽  
Ryo Morikawa ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Association Analysis ◽  
Japanese Population ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Resequencing and association analysis ofOXTRwith autism spectrum disorder in a Japanese population

2014 ◽  
Vol 69 (3) ◽  
pp. 131-135 ◽  
Author(s):  
Jun Egawa ◽  
Yuichiro Watanabe ◽  
Masako Shibuya ◽  
Taro Endo ◽  
Atsunori Sugimoto ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Association Analysis ◽  
Japanese Population ◽  
Autism Spectrum ◽  
Spectrum Disorder

Association analysis of the GABRB3 promoter variant and susceptibility to autism spectrum disorder

Basal Ganglia ◽  
2018 ◽  
Vol 11 ◽  
pp. 4-7 ◽  
Author(s):  
Rezvan Noroozi ◽  
Mohammad Taheri ◽  
Abolfazl Movafagh ◽  
Soudeh Ghafouri-Fard ◽  
Arezou Sayad ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Association Analysis ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Critical region within 22q11.2 linked to higher rate of autism spectrum disorder

2017 ◽  
Vol 8 (1) ◽  
Author(s):  
Caitlin C. Clements ◽  
Tara L. Wenger ◽  
Alisa R. Zoltowski ◽  
Jennifer R. Bertollo ◽  
Judith S. Miller ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Critical Region ◽  
Autism Spectrum ◽  
Spectrum Disorder

scholarly journals Association Analysis of Noncoding Variants in Neuroligins 3 and 4X Genes with Autism Spectrum Disorder in an Italian Cohort

2016 ◽  
Vol 17 (10) ◽  
pp. 1765 ◽  
Author(s):  
Martina Landini ◽  
Ivan Merelli ◽  
M. Raggi ◽  
Nadia Galluccio ◽  
Francesca Ciceri ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Association Analysis ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Italian Cohort

scholarly journals Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder

2020 ◽  
Author(s):  
Yi Liang ◽  
Yinghong Lu ◽  
Sisi Ning ◽  
Guosheng Deng ◽  
Yulin Xie ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
High Resolution ◽  
Behavioral Problems ◽  
Motor Development ◽  
Clinical Symptoms ◽  
Karyotype Analysis ◽  
Partial Trisomy ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Chromosome 15

Abstract Background: Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by conventional cytogenetic analysis. Duplication of chromosome 15 might be account for 50% of the total sSMCs and usually leads to mental retardation, structural malformation, behavioral problems and epilepsy.Case presentation: An 11-month-old infant with an sSMC was referred to our clinic because of developmental retardation and autism spectrum disorder. After several months of rehabilitation treatment, the progress of motor development was obvious, but the consciousness was still far from satisfied. High-resolution karyotype analysis, multiplex ligation-dependent probe amplification and copy number variation sequencing (CNV-Seq) were conducted to confirm the identity of the sSMC. A bisatellited dicentric sSMC was observed clearly in high-resolution karyotype analysis and a 10.16-Mb duplication of 15q11.1q13.2 together with a 1.84-Mb duplication of 15q13.2q13.3 was showed by CNV-Seq in the proband. It suggested that the molecular cytogenetic karyotype was 47, XY,+inv dup(15)(pter/q13::q13/pter) which identify the proband was 15q duplication syndrome (dup15q). Furthermore, the clinical symptoms of the proband mostly fit this disease which is characterized by hypotonia motor delays, autism spectrum disorder (ASD), and intellectual disability.Conclusion: Our research indicates that CNV-seq is a robust, sensitive and economical way for diagnosis of dup15q and related disorders.

scholarly journals Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population

PLoS ONE ◽  
2015 ◽  
Vol 10 (12) ◽  
pp. e0144624 ◽  
Author(s):  
Emiko Inoue ◽  
Yuichiro Watanabe ◽  
Jingrui Xing ◽  
Itaru Kushima ◽  
Jun Egawa ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Association Analysis ◽  
Japanese Population ◽  
Autism Spectrum ◽  
Spectrum Disorder
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