Zobrazeno 1 - 10
of 172
pro vyhledávání: '"Mercedes, Serrano"'
Autor:
Mercedes Serrano, Maria Elias, Marta Llorens, Mercè Bolasell, Helena Vall-Roqué, Laia Villalta
Publikováno v:
Trials, Vol 25, Iss 1, Pp 1-12 (2024)
Abstract Background Children with genetic conditions are at increased risk for mental health and neurodevelopmental problems, often accompanied by significant parental distress. Genetic and family factors can impact children and parents’ mental hea
Externí odkaz:
https://doaj.org/article/2d4e46f09ece48eda450aa2d1a4b7ae5
Stigma in homelessness and health care: reflections from a Housing First program in Barcelona, Spain
Autor:
Marta Llobet-Estany, Mercedes Serrano-Miguel, Araceli Muñoz, Adela Boixadós-Porquet, Belén Campomar
Publikováno v:
Salud Colectiva, Vol 20 (2024)
The experience of homelessness is associated with strong stigmatization processes, which are often reflected in the treatment received from professionals and the healthcare system itself. This article aims to analyze the experiences of participants i
Externí odkaz:
https://doaj.org/article/173300e9de514bbfaad9e1d569d147c9
Autor:
Louise Gallagher, Michael Absoud, Miguel Castelo-Branco, Tony Charman, Maja Hempel, Richard Delorme, Guiomar Oliveira, Roberta Battini, Sven Bölte, Claire S Leblond, Thomas Bourgeron, Alexandra Lautarescu, Mercedes Serrano, Federico Vigevano, Christian P Schaaf, Bethany Oakley, Julian Tillmann, Pierre Violland, Declan G M Murphy, Sarah Douglas, Paolo Bonanni, Grainne McAlonan, Roberta Milone, Josefina Castro-Fornieles, Madeleine Bloomfield, Síofra Heraty, Roderik Plas, Anjuli Ghosh, Katrien Van den Bosch, Eliza Eaton, Ana Blázquez Hinojosa, Nadia Bolshakova, Jacqueline Borg, Sara Calderoni, Rosa Calvo Escalona, Pilar Caro, Freddy Cliquet, Alberto Danieli, Maurizio Elia, Nuno Madeira, Ciara J Molloy, Susana Mouga, Virginia Montiel, Ana Pina Rodrigues, Kristiina Tammimies, Charlotte Tye, Beatrice Mazzone, Cara O’Neill, Julie Pender, Verena Romero, Christopher Chatham
Publikováno v:
BMJ Open, Vol 14, Iss 6 (2024)
Introduction Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed
Externí odkaz:
https://doaj.org/article/815fdc95324e48c4ab0f1f29dd80968c
Autor:
Florencia Epifani, Susana María Pujol Serra, Marta Llorens, Sol Balcells, Gregorio Nolasco, Mercè Bolasell, Sergio Aguilera-Albesa, Ramon Cancho Candela, José Luis Cuevas Cervera, Verónica García Sánchez, Oscar Garcia, María Concepción Miranda-Herrero, Pedro J. Moreno-Lozano, Bernabé Robles, Susana Roldán Aparicio, Ramón Velázquez Fragua, Mercedes Serrano
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-12 (2023)
Abstract Phosphomannomutase deficiency (PMM2-CDG) leads to cerebellar atrophy with ataxia, dysmetria, and intellectual deficits. Despite advances in therapy, the cognitive and adaptive profile remains unknown. Our study explores the adaptive profile
Externí odkaz:
https://doaj.org/article/0568809a129f48fbad0bdc994d49c60e
Autor:
Juliana Ribeiro-Constante, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalo
Externí odkaz:
https://doaj.org/article/166caca1761d48df939f150c72881fb8
Autor:
Maria Eugenia Amato, Silvia Ricart, Maria Asunción Vicente, Loreto Martorell, Judith Armstrong, Guerau Fernández Isern, José Manuel Mascaro, Sol Balsells, Itziar Alonso, Mercedes Serrano, Juan Darío Ortigoza‐Escobar
Publikováno v:
Clinical Case Reports, Vol 11, Iss 4, Pp n/a-n/a (2023)
Key Clinical Message The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particula
Externí odkaz:
https://doaj.org/article/272214c56e584787973dde41991b0204
Autor:
Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 18, p 13699 (2023)
The number of genes implicated in neurodevelopmental conditions is rapidly growing. Recently, variants in PPP2R1A have been associated with syndromic intellectual disability and a consistent, but still expanding, phenotype. The PPP2R1A gene encodes a
Externí odkaz:
https://doaj.org/article/1b68797967244e898233e77e9a3e3098
Autor:
Mercedes Serrano-Miguel
Publikováno v:
Quaderns de Psicología, Vol 24, Iss 2 (2022)
Este artículo tiene por objetivo mostrar la utilidad didáctica de una herramienta de investigación cualitativa, como es el relato autoetnográfico, en el proceso de formación y autoconocimiento de futuros profesionales del Trabajo social. Para el
Externí odkaz:
https://doaj.org/article/82778dbb536a48d98997bcdd7cdb0235
Autor:
Mercedes Serrano-Miguel
Publikováno v:
Cuadernos de Trabajo Social, Vol 35, Iss 2 (2022)
El presente artículo tiene como objetivo aproximar al lector/a, al paradigma de la salud mental colectiva, de largo recorrido en Latinoamérica, pero de un incipiente desarrollo en el contexto español, mostrando al mismo tiempo su posible aplicabil
Externí odkaz:
https://doaj.org/article/c99a41c6cab142b49ff6f49bad52afff
Autor:
Julián Nevado, Sixto García-Miñaúr, María Palomares-Bralo, Elena Vallespín, Encarna Guillén-Navarro, Jordi Rosell, Cristina Bel-Fenellós, María Ángeles Mori, Montserrat Milá, Miguel del Campo, Pilar Barrúz, Fernando Santos-Simarro, Gabriela Obregón, Carmen Orellana, Harry Pachajoa, Jair Antonio Tenorio, Enrique Galán, Juan C. Cigudosa, Angélica Moresco, César Saleme, Silvia Castillo, Elisabeth Gabau, Luis Pérez-Jurado, Ana Barcia, Maria Soledad Martín, Elena Mansilla, Isabel Vallcorba, Pedro García-Murillo, Franco Cammarata-Scalisi, Natálya Gonçalves Pereira, Raquel Blanco-Lago, Mercedes Serrano, Juan Dario Ortigoza-Escobar, Blanca Gener, Verónica Adriana Seidel, Pilar Tirado, Pablo Lapunzina, Spanish PMS Working Group, Mena Rocío, Lleguer Roser, Fernández-Montaño Victoria, Martín Rubén, Fernández Blanca, García-Santiago Fé, Gómez del Pozo Victoria, Peña Carolina, Alhambra Norma, García Carlos, Rodríguez Juan Ramón, Martínez-Bermejo Antonio, Málaga Ignacio, Martínez-Monseny Antonio Federico, Armstrong Judith, Anticona Jennifer, Hernando-Davalillo Cristina, San Martí Adrián Alcalá, Martorell Loreto, Yubero Delia, Nunes Tania, Callaghan Mar O´, Alonso Xenia, Ramos Federico, López Jesús Casas, López-González Vanesa, M Juliana Ballesta, Armengol Lluís, González-Meneses Antonio, Borrego Salud, Roselló Mónica, Suela Javier, Pérez-Granero Ángeles, Rodríguez-Revenga Laia
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Phelan-McDermid syndrome (PMS, OMIM# 606232) results from either different rearrangements at the distal region of the long arm of chromosome 22 (22q13.3) or pathogenic sequence variants in the SHANK3 gene. SHANK3 codes for a structural protein that p
Externí odkaz:
https://doaj.org/article/45e2ed9b52f940b0bd31664eea90cf57