Zobrazeno 1 - 10 of 10 pro vyhledávání: '"Silvia Sequeira"'
1
Akademický článek
Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal
Autor: Ana Catarina Alves, Beatriz Miranda, Oana Moldovan, Raquel Espírito Santo, Raquel Gouveia Silva, Sandra Soares Cardoso, Luísa Diogo, Mónica Seidi, Silvia Sequeira, Mafalda Bourbon
Publikováno v: Frontiers in Genetics, Vol 13 (2023)
Background: Dyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C). Most hyp
Externí odkaz: https://doaj.org/article/12a0bc5a3f654ae398334f101a2be906
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2
Akademický článek
Phenylketonuria in Portugal: Genotype–phenotype correlations using molecular, biochemical, and haplotypic analyses
Autor: Filipa Ferreira, Luísa Azevedo, Raquel Neiva, Carmen Sousa, Helena Fonseca, Ana Marcão, Hugo Rocha, Célia Carmona, Sónia Ramos, Anabela Bandeira, Esmeralda Martins, Teresa Campos, Esmeralda Rodrigues, Paula Garcia, Luísa Diogo, Ana Cristina Ferreira, Silvia Sequeira, Francisco Silva, Luísa Rodrigues, Ana Gaspar, Patrícia Janeiro, António Amorim, Laura Vilarinho
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 3, Pp n/a-n/a (2021)
Abstract Background The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Per
Externí odkaz: https://doaj.org/article/9eab7f6ab4204d20b65d07db2cb1d539
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4
Akademický článek
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
Autor: Ana Margarida Medeiros, Ana Catarina Alves, Beatriz Miranda, Joana Rita Chora, Mafalda Bourbon, Quitéria Rato, Ana Catarina Gomes, Ana Cristina Ferreira, Ana Gaspar, Ana Margarida Marques, Ana Maria Garabal, Ana Paula Bogalho, Ana Rita Pereira, Anabela Raimundo, André Travessa, Andreia Lopes, António Afonso, António Furtado, António Guerra, António Monteiro, António Trindade, Armindo Ribeiro, Bernardo Dias Pereira, Bernardo Marques, Carla Laranjeira, Catarina Senra Moniz, Cecília Frutuoso, Cláudia Falcão Reis, Cláudia Rodrigues, Clementina Fernandes, Conceição Ferreira, Daniel Ferreira, Diogo Torres, Elisabete Martins, Elsa Gaspar, Fabiana Pimentel, Fernando Simões, Francisco Araújo, Francisco Silva, Goreti Lobarinhas, Graça Morais, Guida Gama, Guilherme Lourenço, Helena Mansilha, Helena Pereira, Heloísa Santos, Henedina Antunes, Inês Batista Gomes, Inês Colaço, Isabel Azevedo, Isabel Palma, João Anselmo, João Porto, João Ramos, João Sequeira Duarte, Jorge Pintado Alves, José Miguel Salgado, José Pereira de Moura, Leonor Sassetti, Lina Cardoso Ramos, Luísa Diogo Matos, Luísa Mota Vieira, Luísa Pires, Márcio de Moura, Margarida Bruges, Margarida Venâncio, Maria do Rosário Barroso, Maria João Virtuoso, Maria Luísa Gonçalves, Mário Martins Oliveira, Mendes Nunes, Miguel Costa, Miguel Mendes, Miguel Toscano Rico, Mónica Tavares, Natalina Miguel, Oana Moldovan, Olga Azevedo, Patrícia Lipari Pinto, Patrícia Pais, Patrícia Vasconcelos, Paula Garcia, Paula Martins, Pedro Marques da Silva, Piedade Lemos, Raquel Coelho, Raquel Gouveia da Silva, Raquel Ribeiro, Rita Jotta de Oliveira, Roberto Pinto, Sandra Pereira, Sérgio Ferreira Cristina, Sílvia Sequeira, Susana Correia, Tânia Vassalo, Tiago Pack, Vânia Martins, Vera Frazão Vieira
Publikováno v: Journal of Lipid Research, Vol 65, Iss 2, Pp 100490- (2024)
Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), polygenic hype
Externí odkaz: https://doaj.org/article/68a8ff206df9455cbff0bf939698e1bb
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5
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies
Autor: Silvia Sequeira, Kathryn Hendee, Eric Weh, Kala F. Schilter, John A. Phillips, Linda M. Reis, Albert Schinzel, Elena V. Semina, Rebecca C. Tyler
Publikováno v: Clinical Genetics. 90:378-382
The genetic basis of congenital glaucoma with systemic anomalies is largely unknown. Whole exome sequencing (WES) in 10 probands with congenital glaucoma and variable systemic anomalies identified pathogenic or likely pathogenic variants in three pro
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4309b3c95f308ed8fbd321cdee45aa45
https://doi.org/10.1111/cge.12816
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6
MEGDEL Syndrome: Expanding the Phenotype and New Mutations
Autor: Márcia Rodrigues, Silvia Sequeira, Saskia B. Wortmann, Sandra Jacinto, Ron A. Wevers
Publikováno v: Neuropediatrics, 48, 382-384
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Neuropediatrics, 48, 5, pp. 382-384
Neuropediatrics 48, 382-384 (2017)
3-MEthylGlutaconic aciduria, Deafness, Encephalopathy, neuroradiological evidence of Leigh-like disease (MEGDEL syndrome) was initially described in four children with additional features of defective oxidative phosphorylation. Loss of functional var
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0beca7742b55fbef4ea2d0dda290c19a
https://doi.org/10.1055/s-0037-1602833
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7
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis
Autor: Lambert P. van den Heuvel, G. Herma Renkema, Richard J. Rodenburg, Heike Olbrich, Heymut Omran, Huub J. M. Op den Camp, Marijn Oude Elberink, Ron A. Wevers, Christian Gilissen, Edwin Winkel, Albert Tangerman, K Otfried Schwab, Hanka Venselaar, J. Silvia Sequeira, Arjan Pol, Udo F. H. Engelke, Arjan P.M. de Brouwer, Kevin C K Lloyd, Jörn Oliver Sass, Renee S. Araiza, Hendrik Schäfer
Publikováno v: Nature Genetics, 50, 1, pp. 120-131
Nature Genetics, 50(1), 120-129. Nature Publishing Group
Nature genetics
Nature Genetics, 50, 120-131
Nature Genetics
Nature Genetics, vol 50, iss 1
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Selenium-binding protein 1 (SELENBP1) has been associated with several cancers, although its exact role is unknown. We show that SELENBP1 is a methanethiol oxidase (MTO), related to the MTO in methylotrophic bacteria, that converts methanethiol to H2
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81775b47c5158b411e529d0e67cb293a
https://hdl.handle.net/2066/183968
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8
Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect
Autor: Leo A. J. Kluijtmans, Eva Morava, Silvia Sequeira, Saskia B. Wortmann, Ron A. Wevers
Publikováno v: JIMD Reports ISBN: 9783662445860
Currently, six inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature are known. The “Primary 3-methylglutaconic aciduria,” 3-methylglutaconyl-CoA hydratase deficiency or AUH defect, is a disorder of leucine catabo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e515d34ce32b161d14be099195ad8aae
https://doi.org/10.1007/8904_2014_309
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9
Akademický článek
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients
Autor: Hana Pavlu-Pereira, Maria João Silva, Cristina Florindo, Sílvia Sequeira, Ana Cristina Ferreira, Sofia Duarte, Ana Luísa Rodrigues, Patrícia Janeiro, Anabela Oliveira, Daniel Gomes, Anabela Bandeira, Esmeralda Martins, Roseli Gomes, Sérgia Soares, Isabel Tavares de Almeida, João B. Vicente, Isabel Rivera
Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)
Abstract Background The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotyp
Externí odkaz: https://doaj.org/article/37f927c3888f4a17b355b563b8381907
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10
Akademický článek
Study of the Materials and Techniques of a Rare Papier-Mâché Mushroom Model Crafted in H. Arnoldi Factory
Autor: Maria J. Melo, Ana Freitas, Cristiana Vieira, Márcia Vilarigues, Márcia Vieira, Paula Nabais, Sílvia Sequeira, Mónica Lourenço, Gabriel Oliveira, Ana Rita Correia
Publikováno v: Molecules, Vol 28, Iss 3, p 1062 (2023)
The Natural History and Science Museum of the University of Porto houses a collection of 45 models of fungi in papier-mâché from the 19th-century, which were used at the university until 2015 as didactic models. For the first time, the materials an
Externí odkaz: https://doaj.org/article/6736fa6189d74a82861f68fa2aedb920
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