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1
Spatially explicit analysis reveals complex human genetic gradients in the Iberian Peninsula
Pimenta, J; Lopes, AM; Carracedo, A. - : Nature Publishing Group, 2019
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2
Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.
In: Autism research : official journal of the International Society for Autism Research, vol 11, iss 4 (2018)
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3
Non-invasive measurement of mRNA decay reveals translation initiation as the major determinant of mRNA stability
Chan, Leon Y; Mugler, Christopher F; Heinrich, Stephanie. - : eLife Sciences Publications, Ltd, 2018
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4
Paraplangia sinespeculo, a new genus and species of bush-cricket, with notes on its biology and a key to the genera of Phaneropterinae (Orthoptera: Tettigonioidea) from Madagascar
Heller, K.; Hemp, C.; Massa, B.. - : Orthopterists' Society, 2018. : country:US, 2018
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5
Y chromosomal evidence on the origin of northern Thai people.
In: PloS one, vol 12, iss 7 (2017)
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6
7p22.1 microduplication syndrome: Refinement of the critical region.
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7
Coevolution of genes and languages and high levels of population structure among the highland populations of Daghestan.
In: Journal of human genetics, vol 61, iss 3 (2016)
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8
A human neurodevelopmental model for Williams syndrome.
In: Nature, vol 536, iss 7616 (2016)
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9
A human neurodevelopmental model for Williams syndrome.
In: Nature, vol 536, iss 7616 (2016)
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10
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
In: American journal of human genetics, vol 99, iss 3 (2016)
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11
Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
In: Jama Psychiatry, vol. 73, no. 1, pp. 20-30 (2016)
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12
The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition.
In: Biological psychiatry, vol. 80, no. 2, pp. 129-139 (2016)
Abstract: Deletions and duplications of the 16p11.2 BP4-BP5 locus are prevalent copy number variations (CNVs), highly associated with autism spectrum disorder and schizophrenia. Beyond language and global cognition, neuropsychological assessments of these two CNVs have not yet been reported. This study investigates the relationship between the number of genomic copies at the 16p11.2 locus and cognitive domains assessed in 62 deletion carriers, 44 duplication carriers, and 71 intrafamilial control subjects. IQ is decreased in deletion and duplication carriers, but we demonstrate contrasting cognitive profiles in these reciprocal CNVs. Deletion carriers present with severe impairments of phonology and of inhibition skills beyond what is expected for their IQ level. In contrast, for verbal memory and phonology, the data may suggest that duplication carriers outperform intrafamilial control subjects with the same IQ level. This finding is reminiscent of special isolated skills as well as contrasting language performance observed in autism spectrum disorder. Some domains, such as visuospatial and working memory, are unaffected by the 16p11.2 locus beyond the effect of decreased IQ. Neuroimaging analyses reveal that measures of inhibition covary with neuroanatomic structures previously identified as sensitive to 16p11.2 CNVs. The simultaneous study of reciprocal CNVs suggests that the 16p11.2 genomic locus modulates specific cognitive skills according to the number of genomic copies. Further research is warranted to replicate these findings and elucidate the molecular mechanisms modulating these cognitive performances.
Keyword: 16p11.2; Adolescent; Adult; ASD; Autistic Disorder/diagnostic imaging; Autistic Disorder/genetics; Autistic Disorder/physiopathology; Child; Chromosome Deletion; Chromosome Disorders/diagnostic imaging; Chromosome Disorders/genetics; Chromosome Disorders/physiopathology; Chromosome Duplication/genetics; Chromosomes; Cognitive Dysfunction/diagnostic imaging; Cognitive Dysfunction/genetics; Cognitive Dysfunction/physiopathology; Copy number variation; DNA Copy Number Variations/genetics; Executive Function/physiology; Female; Heterozygote; Human; Humans; Inhibition; Intellectual Disability/diagnostic imaging; Intellectual Disability/genetics; Intellectual Disability/physiopathology; Intelligence/genetics; Language; Male; Memory; Memory/physiology; Middle Aged; Motor Skills/physiology; Pair 16/genetics; Pedigree; Preschool; Young Adult
URL: https://serval.unil.ch/notice/serval:BIB_9660DE6D30D1
https://serval.unil.ch/resource/serval:BIB_9660DE6D30D1.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_9660DE6D30D10
https://doi.org/10.1016/j.biopsych.2015.10.021
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13
Genetic heritage of the balto-slavic speaking populations: a synthesis of autosomal, mitochondrial and Y-chromosomal data
Kushniarevich, A.; Utevska, O.; Chuhryaeva, M.. - : Public Library of Science, 2015
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14
A novel multi-alignment pipeline for high-throughput sequencing data.
In: Database : the journal of biological databases and curation, vol 2014, iss 0 (2014)
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15
Increased prevalence of sex chromosome aneuploidies in specific language impairment and dyslexia.
In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2014)
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16
Genome-wide association analyses of child genotype effects and parent-of-origin effects in specific language impairment.
In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2014)
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17
Las leyes de la lingüística en los sistemas de comunicación
Hernández-Fernández, Antoni. - : Universitat de Barcelona, 2014
In: TDX (Tesis Doctorals en Xarxa) (2014)
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18
Las leyes de la lingüística en los sistemas de comunicación
Hernández-Fernández, Antoni. - : Universitat de Barcelona, 2014
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19
The XY gene hypothesis of psychosis: origins and current status.
In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2013)
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20
TM4SF20 ancestral deletion and susceptibility to a pediatric disorder of early language delay and cerebral white matter hyperintensities.
In: Symplectic Elements at Oxford ; Europe PubMed Central ; PubMed (http://www.ncbi.nlm.nih.gov/pubmed/) ; Web of Science (Lite) (http://apps.webofknowledge.com/summary.do) ; Scopus (http://www.scopus.com/home.url) ; CrossRef (2013)
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