Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Maite Fernández-Urquiza"'
Publikováno v:
Brain Sciences, Vol 12, Iss 3, p 385 (2022)
Linguistic phenotypes of individuals with Fragile X (FXS) and Williams (WS) syndromes exhibit various degrees of pragmatic impairment, involving difficulties in social communication and in adapting to conversational principles. The goal of the presen
Externí odkaz:
https://doaj.org/article/6371dfb1824d4a99ab631560c508c7e0
Publikováno v:
Pragmalingüística, Iss 2 (2020)
Las cromosomopatías consisten en duplicaciones o deleciones de fragmentos cromosómicos que suelen conllevar alteraciones del lenguaje. Debido a su baja prevalencia, no se dispone aún de descripciones precisas del déficit lingüístico que llevan
Externí odkaz:
https://doaj.org/article/26081d7e37c641f39facd953b0557f22
Autor:
Antonio Benítez-Burraco, Montserrat Barcos-Martínez, Isabel Espejo-Portero, Maite Fernández-Urquiza, Raúl Torres-Ruiz, Sandra Rodríguez-Perales, Ma Salud Jiménez-Romero
Publikováno v:
Frontiers in Pediatrics, Vol 6 (2018)
The chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech an
Externí odkaz:
https://doaj.org/article/9d7c1ff6e99741ebbad07859b5d2d856
Publikováno v:
Frontiers in Psychology, Vol 8 (2018)
Narrative skills play a crucial role in organizing experience, facilitating social interaction and building academic discourse and literacy. They are at the interface of cognitive, social, and linguistic abilities related to school engagement. Despit
Externí odkaz:
https://doaj.org/article/b5914ca65f8b4347975a90c38e89adc7
Publikováno v:
Molecular Syndromology. 13:496-510
Introduction: Copy-number variations (CNVs) impacting on small DNA stretches and associated with language deficits provide a unique window to the role played by specific genes in language function. Methods: We report in detail on the cognitive, langu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6986bfed61b2690bfe4e69a2a4bd6d01
https://doi.org/10.1159/000524710
https://doi.org/10.1159/000524710
Purpose: Chromosome 16p11.2 deletion syndrome (OMIM #611913) is a rare genetic condition resulting from the partial deletion of approximately 35 genes located at Chromosome 16. Affected people exhibit a variable clinical profile, featuring mild dysmo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ff0b0e8b6b770e16b94722207c099a7
https://doi.org/10.31234/osf.io/dtcy2
https://doi.org/10.31234/osf.io/dtcy2
Copy-number variations (CNVs) impacting on small DNA stretches and that are associated to language deficits provide a unique window to the role played by specific genes in language function. We report in detail on the cognitive and language features
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::385b01b0f046d1c1f42bf83d4bedf4bc
https://doi.org/10.31234/osf.io/aw25n
https://doi.org/10.31234/osf.io/aw25n
Publikováno v:
Clinical linguisticsphonetics. 35(7)
Deletions and duplications of the distal region of the long arm of chromosome 1 are associated with brain abnormalities and developmental delay. Because duplications are less frequent than deletions, no detailed account of the cognitive profile of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::761a99d043a2351da903571adb613e61
https://pubmed.ncbi.nlm.nih.gov/32856472
https://pubmed.ncbi.nlm.nih.gov/32856472
Publikováno v:
Mol Syndromol
Duplications of the distal region of the short arm of chromosome 9 are rare, but are associated with learning disabilities and behavioral disturbances. We report in detail the cognitive and language features of a child with a duplication in the 9p24.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fcf3142da3b6b89258a38ddda3b8191d
https://pubmed.ncbi.nlm.nih.gov/33510598
https://pubmed.ncbi.nlm.nih.gov/33510598
Publikováno v:
Pragmalingüística. Monográfico Núm. 2 pp. 152-168
RODIN: Repositorio de Objetos de Docencia e Investigación de la Universidad de Cádiz
Universidad de Cádiz
RODIN: Repositorio de Objetos de Docencia e Investigación de la Universidad de Cádiz
Universidad de Cádiz
Las cromosomopatías consisten en duplicaciones o deleciones de fragmentos cromosómicos que suelen conllevar alteraciones del lenguaje. Debido a su baja prevalencia, no se dispone aún de descripciones precisas del déficit lingüístico que llevan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dff4e5a4d5d2ae210bab5e201bc39fe1