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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)
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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)
Abstract: Esta tesis se presenta como compendio de publicaciones. Se hace una breve revisión de la lingüística cuantitativa y algunas de sus leyes: la ley de Zipf, la ley de Menzerath-Altmann y la ley de brevedad. Se propone además el principio de compresión en ciencia cognitiva y lenguaje. Para empezar, se presenta la ley de Zipf y se revisa la relación entre el exponente de la distribución de frecuencias y el exponente de la relación potencial entre la frecuencia y su rango. Se demuestra que ambos exponentes coinciden únicamente cuando su valor es el número de oro. Tras revisar las desviaciones de la ley de Zipf en el lenguaje, se incluye el primer estudio de estas desviaciones realizado con corpus de enfermos de Alzheimer, con el ánimo de detectar la evolución verbal de la enfermedad, lo que en el futuro podría ayudar a mejorar la detección precoz de la patología. Al explicar la ley de Menzerath-Altmann se muestra su no trivialidad estadística, y se aplica al estudio del nivel cromosómico del genoma y su relación con los modelos de fragmentación aleatoria. Posteriormente, tras exponer la ley de brevedad, se corroboró su presencia en los corpus de siete lenguas y se exploró, con diversos resultados, en el repertorio de delfines y en las emisiones de primates no humanos y cuervos. Seguidamente se presentan algunos principios generales que rigen la comunicación, entre ellos el principio de compresión, que tiene como consecuencia la ley de brevedad. El principio de compresión, originario de la teoría de la información, se propone para la ciencia cognitiva y la comunicación. Por último, se explora el fenómeno de la comunicación química, más allá del ADN. Tras revisar los conceptos de infoquímico, feromona y aleloquímico, se analiza cuantitativamente la base de datos Pherobase, encontrando dos regímenes de la ley de Zipf en la distribución de infoquímicos según el grado o número de especies que utiliza cada sustancia, lo que demostraría que también hay un repertorio químico nuclear y otro periférico en la comunicación química, en analogía a lo que sucede en el lenguaje. ; vThis thesis is presented as a compendium of articles. It is a brief review of quantitative Linguistics and some of its laws: Zipf's law, Menzerath-Altmann’s law and brevity’s law. Also we propose and intend to integrate the principle of compression in cognitive science and language. First, we revisit Zipf’s law and the relationship between power law distribution of a magnitude and the corresponding power relationship between the magnitude of a certain element and its rank. We show that the exponents of the two power laws coincide when its value is the famous golden number. Deviations from the Zipf’s exponent in the words of mid-frequency for GDS5 patients with Alzheimer’s Disease (AD) have been observed, but not for GDS4 patients, showing that it is possible to predict the evolution from one disease stage to another in the AD and determine when syntax is altered, exploring the simple oral production of the patient. After that, we demonstrate that words follow Zipf’s law of brevity in human language, and conformity to this general pattern has been seen in the behavior of a number of other species. It has been argued that the presence of this law is a sign of efficient coding in the information theoretic sense, and the law has been connected with compression’s principle, the information theoretic principle of minimizing the expected length of a code. We argue that compression is a general principle of animal behavior that reflects selection for efficiency of coding. Finally, we explore Menzerath-Altmann’s law in genomes, aplying quantitative linguistics powerful tools for investigating nontrivial connections between human language and genomes. The distribution of infochemicals across species is investigated when they are ranked by their degree and we find that a double Zipf (a Zipf distribution with two regimes with a different exponent each) is the model yielding the best fit. This suggests that the world wide repertoire of infochemicals contains a chemical nucleus shared by many species and reminiscent of the core vocabularies found for human language in dictionaries or large corpora.
Keyword: 81; Alzheimer's disease; Animal communication; Chromosomes; Ciències Humanes i Socials; Comunicació animal; Comunicación animal; Cromosomas; Cromosomes; Enfermedad de Alzheimer; Ley de Menzerath–Altmann; Ley de Zipf; Llei de Menzerath–Altmann; Llei de Zipf; Malaltia d'Alzheimer; Menzerath–Altmann law; Psicolingüística; Psycholinguistics; Zipf's law
URL: http://hdl.handle.net/10803/145682
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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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