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Christian R. Marshall et al.
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Hyung-Goo Kim et al.
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Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay
Alisa Nakamine et al.
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Lauren A. Weiss et al.
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F. R. Zahir et al.
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J. Melke et al.
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Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome
Jocelyn M. Bischof et al.
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Is ASMT a susceptibility gene for autism spectrum disorders?: A replication study in European populations
C. Toma et al.
MOLECULAR PSYCHIATRY (2007)
The imprinted gene Magel2 regulates normal circadian output
Serguei V. Kozlov et al.
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Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH:: Important role for increased gene dosage of XLMR genes
Guy Froyen et al.
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P. Jha et al.
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Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region
Jonathan S. Berg et al.
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C. Depienne et al.
JOURNAL OF MEDICAL GENETICS (2007)
COMT genotype and cognitive ability:: A longitudinal aging study
John M. Starr et al.
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Strong association of de novo copy number mutations with autism
Jonathan Sebat et al.
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Lorraine Potocki et al.
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Dorota A. Kwasnicka-Crawford et al.
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Amber Hogart et al.
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Mapping autism risk loci using genetic linkage and chromosomal rearrangements
Peter Szatmari et al.
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Lisa Edelmann et al.
JOURNAL OF MEDICAL GENETICS (2007)
qBase relative quantification framework and software for management and automated analysis of real-time quantitative PCR data
Jan Hellemans et al.
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Maria Kirchhoff et al.
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Childhood autism and associated comorbidities
Dimitrios I. Zafeiriou et al.
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Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation
Laura Torres-Juan et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders
M-L Jacquemont et al.
JOURNAL OF MEDICAL GENETICS (2006)
Prevalence of psychiatric disorders in 4 to 16-year-olds with Williams syndrome
Ovsanna T. Leyfer et al.
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The 22q11.2 deletion in children: High rate of autistic disorders and early onset of psychotic symptoms
Jacob A. S. Vorstman et al.
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Lauren A. Weiss et al.
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ITGB3 shows genetic and expression interaction with SLC6A4
Lauren A. Weiss et al.
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Necdin promotes GABAergic neuron differentiation in cooperation with Dlx homeodomain proteins
Takaaki Kuwajima et al.
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Genomic and functional profiling of duplicated chromosome 15 cell lines reveal regulatory alterations in UBE3A-associated ubiquitin-proteasome pathway processes
CA Baron et al.
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The inv dup(15) or idic(15) syndrome: A clinically recognisable neurogenetic disorder
A Battaglia
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Autism spectrum disorders and symptoms in children with molecularly confirmed 22q11.2 deletion syndrome
SE Fine et al.
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A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q 11.2 deletion syndrome in children
TJ Simon et al.
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Microduplication and triplication of 22q11.2: A highly variable syndrome
TM Yobb et al.
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Cytogenetic abnormalities and fragile-X syndrome in autism spectrum disorder
KS Reddy
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CMD Maranduba et al.
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D Castermans et al.
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LN Sellner et al.
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A comprehensive analysis of 22q11 gene expression in the developing and adult brain
TM Maynard et al.
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Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients
RE Ensenauer et al.
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Fine mapping of Autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes
YJ Shao et al.
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Prevalence of autism in a US metropolitan area
M Yeargin-Allsopp et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2003)
Disease susceptibility genes for autism
IN Bespalova et al.
ANNALS OF MEDICINE (2003)
TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment
M Gomot et al.
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Supernumerary marker chromosomes derived from chromosome 15:: analysis of 32 new cases
K Eggermann et al.
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FE Abidi et al.
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Mutation screening and transmission disequilibrium study of ATP10C in autism
SJ Kim et al.
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Association between a GABRB3 polymorphism and autism
JD Buxbaum et al.
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Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons
MA Pujana et al.
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Neuropsychiatric disorders in the 22q11 deletion syndrome
L Niklasson et al.
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A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation
R Zemni et al.
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