Výsledky vyhledávání - "Neuromotor delay"

Akademický článek

Evolution of a System to Monitor Infant Neuromotor Development in the Home: Lessons from COVID-19

Autor: Manon Maitland Schladen, Hsin-Hung Kuo, Tan Tran, Achuna Ofonedu, Hanh Hoang, Robert Jett, Megan Gu, Kimberly Liu, Kai’lyn Mohammed, Yas’lyn Mohammed, Peter S. Lum, Yiannis Koumpouros

Publikováno v: Healthcare, Vol 11, Iss 6, p 784 (2023)

In the nine months leading up to COVID-19, our biomedical engineering research group was in the very early stages of development and in-home testing of HUGS, the Hand Use and Grasp Sensor (HUGS) system. HUGS was conceived as a tool to allay parents�

Externí odkaz: https://doaj.org/article/ba5feca5ac4246e4beb0ceeca313abbe

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Akademický článek

Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

Autor: Juan L. García-Hernández, Luis A. Corchete, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Carmen Fons, Pedro A. Lazo

Publikováno v: Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021)

Abstract Background Complex developmental encephalopathy syndromes might be the consequence of unknown genetic alterations that are likely to contribute to the full neurological phenotype as a consequence of pathogenic gene combinations. Methods To i

Externí odkaz: https://doaj.org/article/1e7d521c22ca40d9b075d128f52b3343

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Akademický článek

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome

Autor: Pedro A. Lazo, Juan L. García, Paulino Gómez-Puertas, Íñigo Marcos-Alcalde, Cesar Arjona, Alvaro Villarroel, Rogelio González-Sarmiento, Carmen Fons

Publikováno v: International Journal of Molecular Sciences, Vol 21, Iss 12, p 4447 (2020)

Complex neurodevelopmental syndromes frequently have an unknown etiology, in which genetic factors play a pathogenic role. This study utilizes whole-exome sequencing (WES) to examine four members of a family with a son presenting, since birth, with e

Externí odkaz: https://doaj.org/article/03fc879969354257aa2b9e14a8a6a498

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Akademický článek

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Akademický článek

Investigação das causas de atraso no neurodesenvolvimento: recursos e desafios Investigation of neurodevelopment delay etiology: resources and challenges

Autor: Luiza Helena Acerbi Caram, Carolina Araújo Rodrigues Funayama, Cleide Íris Spina, Liane de Rosso Giuliani, João Monteiro de Pina Neto

Publikováno v: Arquivos de Neuro-Psiquiatria, Vol 64, Iss 2b, Pp 466-472 (2006)

Com o objetivo de verificar o alcance da investigação de causas do retardo no desenvolvimento neuromotor (RDNM), apresenta-se a experiência no atendimento em Pediatria, Neurologia Infantil e Genética Clínica, em nível terciário, de 73 criança

Externí odkaz: https://doaj.org/article/e5cda0aa1ef2435a9ca7ba429993eb0e

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Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

Autor: Luis A. Corchete, Pedro A. Lazo, Iñigo Marcos-Alcalde, Juan L. García-Hernández, Carmen Fons, Paulino Gómez-Puertas

Publikováno v: Human Genomics
DDFV. Repositorio Institucional de la Universidad Francisco de Vitoria
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Digital.CSIC. Repositorio Institucional del CSIC
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021)

© The Author(s).
[Background]: Complex developmental encephalopathy syndromes might be the consequence of unknown genetic alterations that are likely to contribute to the full neurological phenotype as a consequence of pathogenic gene combinati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::824a12566ad5fb8a5b50caf119aa899a
http://europepmc.org/articles/PMC7871650

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Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

Autor: García-Hernández JL, Corchete LA, Marcos-Alcalde Í, Gómez-Puertas P, Fons-Estupina C, Lazo PA

Publikováno v: HUM GENOMICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

BACKGROUND: Complex developmental encephalopathy syndromes might be the consequence of unknown genetic alterations that are likely to contribute to the full neurological phenotype as a consequence of pathogenic gene combinations. METHODS: To identify

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8c81190e3d3d9cd32b56c58ca0191296
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19071

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