Výsledky vyhledávání - "Márcia E. Oliveira"

X-Linked Myotubular Myopathy: A Novel Mutation Expanding the Genotypic Spectrum of a Phenotypically Heterogeneous Myopathy

Autor: Márcia E. Oliveira, Carmen Costa, Ricardo Taipa, Ana L. Gonçalves, Moisés L. Pinto, Andreia F. Carvalho, Joana Ribeiro, Sofia Ferreira

Publikováno v: Journal of Pediatric Genetics.

X-linked myotubular myopathy (XLMTM), a centronuclear congenital myopathy secondary to pathogenic variants in the MTM1 gene encoding myotubularin, is typically recognized for its classic and severe phenotype which includes neonatal hypotonia, severe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7ff9ebacf4008566f8b6822af69fe3a0
https://doi.org/10.1055/s-0041-1728745

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Effectiveness of a combined surf and psychological preventive intervention with children and adolescents in residential childcare: A randomized controlled trial

Autor: Sara Tereso, Catarina Ferreira, José M.F. Ferreira, Ana I. Pereira, Márcia E. Oliveira, Magda Sofia Roberto, Ema Shaw Evangelista, Sofia Neves, Carla Crespo, Ana M. V. M. Pereira

Publikováno v: REDIUMH: Depósito Digital de la UMH
Universidad Miguel Hernández de Elche
Revista de Psicología Clínica con Niños y Adolescentes, Vol 7, Iss 2, Pp 22-31 (2020)
REDIUMH. Depósito Digital de la UMH
instname

Children and adolescents living in residential childcare have a higher prevalence of mental health problems as a result of a history of adverse childhood experiences. Therefore, this population should be a priority target for mental health preventive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6079f30976b063de077c9a4b7ab82599
http://hdl.handle.net/11000/6525

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Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (DMD)

Autor: Ana Gonçalves, Ana Fortuna, Yavuz Ariyurek, Márcia E. Oliveira, Goreti Nadais, Jorge Pinheiro, Johan T. den Dunnen, Mário Sousa, Jorge Oliveira, Rosário Santos

Publikováno v: International Journal of Molecular Sciences, Vol 23, Iss 59, p 59 (2022)
International Journal of Molecular Sciences, 23(1). MDPI
International Journal of Molecular Sciences

While in most patients the identification of genetic alterations causing dystrophinopathies is a relatively straightforward task, a significant number require genomic and transcriptomic approaches that go beyond a routine diagnostic set-up. In this w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87516ec8e3309c43d3c8db14d39eecf9
https://doi.org/10.3390/ijms23010059

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Characterization of CCDC103 expression profiles: further insights in primary ciliary dyskinesia and in human reproduction

Autor: T. Barbosa, Rute Pereira, P. Gonçalves, Márcia E. Oliveira, Ana Barros, Elsa Oliveira, Soraia Pinto, Jorge Oliveira, Rosário Santos, L. Ferraz, Tiago Santos, Mário Sousa

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
J Assist Reprod Genet

PROPOSE: To study CCDC103 expression profiles and understand how pathogenic variants in CCDC103 affect its expression profile at mRNA and protein level. METHODS: To increase the knowledge about the CCDC103, we attempted genotype-phenotype correlation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4489b3d385e865d7fb2988b4f85e47a
https://hdl.handle.net/10216/126667

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RECOMENDAÇÕES DE AÇÕES E TECNOLOGIAS PARA A ACESSIBILIDADE DE SURDOS EM CURSO DE PROGRAMAÇÃO A DISTÂNCIA

Autor: Gabriel Silva Nascimento, Jennifer Gonçalves do Amaral, Márcia E. Oliveira, Lucineia Barbosa da Costa, Anne Caroline Silva, Mônica Ferreira Silva Lopes

A programação de computadores é um conhecimento complexo porque para ser aprendido demanda a operacionalização de várias habilidades. No caso de estudantes surdos, o desafio é ainda maior pois a aprendizagem é dificultada pelas limitações n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::551a3a486bf83e0b543f81e4a37c8726
https://doi.org/10.22533/at.ed.75019010621

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New massive parallel sequencing approach improves the genetic characterization of congenital myopathies

Autor: Rosário Santos, Elmira Medeiros, Ricardo Taipa, José Luis Costa, Jorge Oliveira, Manuela M. Santos, Ana R. Gonçalves, José Carlos Machado, Márcia E. Oliveira, Mário Sousa, Manuel Melo-Pires, Teresa Coelho

Publikováno v: Journal of Human Genetics. 61:497-505

Congenital myopathies (CMs) are a heterogeneous group of muscle diseases characterized by hypotonia, delayed motor skills and muscle weakness with onset during the first years of life. The diagnostic workup of CM is highly dependent on the interpreta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63dfc09dc47a8f12b3a56e65cb973c09
https://doi.org/10.1038/jhg.2016.2

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LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP

Congenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. MDC1A usually presents as a severe neonatal hypotonia and failure to thriv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c04cd6b5e71af867bcdbbbc92a1fd80d
https://pubmed.ncbi.nlm.nih.gov/30055037

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Haplotype analysis of newly diagnosed Portuguese and Brazilian families with fibrinogen amyloidosis caused by the FGA p.Glu545Val variant

Autor: Rosário Santos, Isabel Tavares, Márcia E. Oliveira, Luciana Moreira, Pedro Castro Lacerda, Josefina Santos, Luísa Lobato, Nuno Maia, Paulo Costa

Publikováno v: Amyloid. 26:144-145

Background: Fibrinogen A alpha-chain (AFib) amyloidosis is an autosomal dominant disease with an endemic foci in the district of Braga, northern Portugal [1]. Among the 16 amyloidogenic mutations identified in the fibrinogen A alpha-chain gene (FGA)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::794c250e33667bf241d409357de0cd02
https://doi.org/10.1080/13506129.2019.1582500

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