Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Joana Rita Chora"'
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
Autor:
Joana Rita Chora, Helena Simões-Teixeira, Tiago Daniel Matos, Jorge Humberto Martins, Marisa Alves, Raquel Ferreira, Luís Silva, Carlos Ribeiro, Graça Fialho, Helena Caria
Publikováno v:
Case Reports in Genetics, Vol 2012 (2012)
Individual’s hearing performance after cochlear implant (CI) is variable and depends on different factors such as etiology of deafness, age at implantation, and social/family hearing environment. Here we report the case of dizygotic twins, boy and
Externí odkaz:
https://doaj.org/article/2feaf6e147924df5b85130b8d759d4d2
Autor:
Mafalda Bourbon, Joana Rita Chora
Publikováno v:
Current Opinion in Lipidology. 32:96-102
Purpose of review To collect evidence on statin pharmacogenomics, and review what is known in this field for familial hypercholesterolemia (FH) patients. Recent findings There are well-known associations between specific single nucleotide polymorphis
Autor:
Joana Rita Chora, Margaret Chen, Lukáš Tichý, Sarah Leigh, Tomáš Freiberger, Michael A. Iacocca, Michal Kramarek, Robert A. Hegele, Hannah Wand, Cinthia E. Jannes, Liam R. Brunham, Heather Zimmermann, ClinGen Familial Hypercholesterolemia Expert Panel, Tami Johnston, Eric J.G. Sijbrands, Steve E. Humphries, Serra Kim, C. Lisa Kurtz, Alexandre C. Pereira, Mafalda Bourbon, Amanda J. Hooper, Jessica Chonis, Jian Wang, Mark Trinder, Joshua W. Knowles, Premysl Soucek, Maggie Williams, Annette Leon, Alain Carrié
Publikováno v:
Genetics in Medicine, 24(2), 293-306. Lippincott Williams & Wilkins
The online version of this article (https://doi.org/10.1016/j. gim.2021.09.012) contains supplementary material, which is available to authorized users. Purpose: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Associatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::339fef96974d58015c82ac362e1f9381
https://hdl.handle.net/10400.18/8289
https://hdl.handle.net/10400.18/8289
Autor:
Cibelle Mariano, Steve E. Humphries, Marta Futema, Joana Rita Chora, Ana Margarida Medeiros, Mafalda Bourbon, Ana Catarina Alves, Marília Antunes
Publikováno v:
Clinical Genetics. 97:457-466
Familial Hypercholesterolaemia (FH) is a monogenic disorder characterised by high LDL-C concentrations and increased cardiovascular risk. However, in clinically defined FH cohorts worldwide, an FH-causing variant is only found in 40-50% of the cases.
Autor:
Tomáš Freiberger, Heather Zimmermann, Michael A. Iacocca, Lukas Tichy, Cinthia E. Jannes, Robert A. Hegele, Michal Kramarek, Alain Carrié, Alexandre C. Pereira, Sarah Leigh, Joana Rita Chora, Eric J.G. Sijbrands, Margaret Chen, Hannah Wand, Serra Kim, C. Lisa Kurtz, Tami Johnston, Amanda J. Hooper, Steve E. Humphries, Mark Trinder, Liam R. Brunham, Mafalda Bourbon, Jessica Chonis, Jian Wang, Joshua W. Knowles, Premysl Soucek, Maggie Williams, Annette Leon
PurposeIn 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) published consensus standardized guidelines for variant classification in Mendelian disorders. To increase accuracy and con
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a865356915fa0402144210d466fbb6d2
https://doi.org/10.1101/2021.03.17.21252755
https://doi.org/10.1101/2021.03.17.21252755
Autor:
Ana Catarina Alves, Christina Anne Austin-Tse, Mafalda Bourbon, Marcelo A. Carvalho, Ozge Ceyhan-Birsoy, George S. Charames, Joana Rita Chora, Mara Colombo, Xavier de la Cruz, Johan T. den Dunnen, Niels de Wind, Orland Diez, Anna B.R. Elias, D Gareth Evans, Lidia Feliubadaló, Vanessa C. Fernandes, Ivo F.A.C. Fokkema, Cristina Fortuno, Alice Garrett, Paolo Gasparini, Giorgia Girotto, Anna González-Neira, Karen W. Gripp, Sara Gutiérrez-Enríquez, Steven M. Harrison, Miguel de la Hoya, Jodie Ingles, Renee Johnson, Jordan Lerner-Ellis, Harvey Levy, Conxi Lázaro, Heather Mason-Suares, Ana Margarida Medeiros, Jessica L. Mester, Alejandro Moles-Fernández, Alvaro N.A. Monteiro, Anna Morgan, Thales C. Nepomuceno, Rocío Núñez-Torres, Selen Özkan, Natàlia Padilla, Michael T. Parsons, Tina F. Pesaran, Marta Pineda, Paolo Radice, Farrah Rajabi, Ebony Richardson, Peter Sabatini, Stephanie Sacharow, Amanda Spurdle, Bryony A. Thompson, Emma Tudini, Clare Turnbull, Lisa M. Vincent, Michael F. Walsh, Nicholas Watkins
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f994cfd2699d7dc17cf4ee5821374fc9
https://doi.org/10.1016/b978-0-12-820519-8.01002-4
https://doi.org/10.1016/b978-0-12-820519-8.01002-4
Autor:
Annette Leon, Marina Cuchel, Eric J.G. Sijbrands, Heather Zimmermann, Liam R. Brunham, M. Bourbon, Jian Wang, Alain Carrié, Steve E. Humphries, A.C. Alves, Maggie Williams, Pedro Mata, Robert A. Hegele, Josh Knowles, Joep C. Defesche, Iftikhar J. Kullo, Joana Rita Chora, Raul D. Santos, Hannah Wand, C.L. Kurtz, Lukas Tichy, Michael A. Iacocca, Tomáš Freiberger
Familial Hypercholesterolemia (FH): Lipid metabolism autosomal dominant condition; Patients present elevated low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) values since childhood → increased risk of atherosclerotic cardiovas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e779f5c0407b37d22ba1a7efb6f802ce
https://hdl.handle.net/10400.18/7695
https://hdl.handle.net/10400.18/7695
Publikováno v:
Genetics in Medicine. 20:591-598
PurposeFamilial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism presenting with increased cardiovascular risk. Although more than 1,700 variants have been associated with FH, the great majority have not been functionally proved
Publikováno v:
Current opinion in lipidology. 30(2)
Editorial Familial hypercholesterolaemia is an autosomal dominant disorder of lipid metabolism characterized by elevated levels of LDL-C and increased cardiovascular risk. Although the disorder can be diagnosed based on established clinical criteria,