Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Xavier Queralt"'
Autor:
Irene Mademont‐Soler, Susanna Esteba‐Castillo, Aida Jiménez‐Xifra, Berta Alemany, Núria Ribas‐Vidal, Maria Cutillas, Mònica Coll, Mel·lina Pinsach, Sara Pagans, Mireia Alcalde, Marina Viñas‐Jornet, Mercedes Montero‐Vale, Marta deCastro‐Miró, Jairo Rodríguez, Lluís Armengol, Xavier Queralt, María Obón
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 6, Pp n/a-n/a (2024)
Abstract Background Spastic paraplegia 11 (SPG11) is the most prevalent form of autosomal recessive hereditary spastic paraplegia, resulting from biallelic pathogenic variants in the SPG11 gene (MIM *610844). Methods The proband is a 36‐year‐old
Externí odkaz:
https://doaj.org/article/f8ae4d4c2eb84f83b89a1dd3212e22d2
Autor:
Marta Malagón, Sara Ramió-Pujol, Marta Serrano, Joan Amoedo, Lia Oliver, Anna Bahí, Josep Oriol Miquel-Cusachs, Manel Ramirez, Xavier Queralt-Moles, Pau Gilabert, Joan Saló, Jordi Guardiola, Virginia Piñol, Mariona Serra-Pagès, Antoni Castells, Xavier Aldeguer, L Jesús Garcia-Gil
Publikováno v:
PLoS ONE, Vol 15, Iss 12, p e0243158 (2020)
Guidelines recommend routine screening for colorectal cancer (CRC) in asymptomatic adults starting at age 50. The most extensively used noninvasive test for CRC screening is the fecal immunochemical test (FIT), which has an overall sensitivity for CR
Externí odkaz:
https://doaj.org/article/44934b6419c64f68b0a27a8895c1930d
Autor:
Elisabet Cuyàs, Maria Buxó, Maria José Ferri Iglesias, Sara Verdura, Sonia Pernas, Joan Dorca, Isabel Álvarez, Susana Martínez, Jose Manuel Pérez-Garcia, Norberto Batista-López, César A. Rodríguez-Sánchez, Kepa Amillano, Severina Domínguez, Maria Luque, Idoia Morilla, Agostina Stradella, Gemma Viñas, Javier Cortés, Jorge Joven, Joan Brunet, Eugeni López-Bonet, Margarita Garcia, Samiha Saidani, Xavier Queralt Moles, Begoña Martin-Castillo, Javier A. Menendez
Publikováno v:
Frontiers in Oncology, Vol 9 (2019)
Background: The minor allele (C) of the single-nucleotide polymorphism (SNP) rs11212617, located near the ataxia telangiectasia mutated (ATM) gene, has been associated with an increased likelihood of treatment success with metformin in type 2 diabete
Externí odkaz:
https://doaj.org/article/d2338fd8195c45919755b3df06f89a20
Autor:
Dolors Casellas‐Vidal, Irene Mademont‐Soler, Joana Sánchez, Alberto Plaja, Neus Castells, Maria Camós, Javier Nieto‐Moragas, Maria del Mar García, Celia Rodriguez‐Solera, Helena Rivera, Joan Brunet, Sara Álvarez, Josep Perapoch, Xavier Queralt, María Obón
Publikováno v:
American Journal of Medical Genetics Part A. 191:941-947
The phenotypic repercussion of ZDHHC15 haploinsufficiency is not well-known. This gene was initially suggested as a candidate for X-linked mental retardation, but such an association was later questioned. We studied a multiplex family with three memb
Autor:
Xavier Queralt, Dolors Casellas-Vidal, Dan Diego-Álvarez, Alberto Trujillo, Maria Del Mar García-González, Núria Espuña-Capote, Josep Perapoch, Anna Maroto, María Obón, María Dolores Ruiz, Irene Mademont-Soler
Publikováno v:
American Journal of Medical Genetics Part A. 185:476-485
GLYT1 encephalopathy is a form of glycine encephalopathy caused by disturbance of glycine transport. The phenotypic spectrum of the disease has not yet been completely described, as only four unrelated families with the disorder have been reported to
Autor:
Ana Zabalza, Georgina Arrambide, Susana Otero-Romero, Agustín Pappolla, Paula Tagliani, Samuel López-Maza, Simón Cárdenas-Robledo, Juliana Esperalba, Candela Fernández-Naval, Monica Martínez-Gallo, Mireia Castillo, Mercè Bonastre, Mireia Resina-Salles, Jordina Bertran, Marta Rodriguez-Barranco, Pere Carbonell-Mirabent, Marina Gonzalez, Miguel Merchan, Ana Quiroga-Varela, Albert Miguela, Imma Gómez, Gary Álvarez, René Robles, Dúnia Perez del Campo, Xavier Queralt, Maria José Soler, Irene Agraz, Fernando Martinez-Valle, Breogán Rodríguez-Acevedo, Luciana Midaglia, Ángela Vidal-Jordana, Álvaro Cobo-Calvo, Carmen Tur, Ingrid Galan, Joaquín Castillo, Jordi Río, Carmen Espejo, Manuel Comabella, Carlos Nos, Jaume Sastre-Garriga, Lluís Ramió-Torrentà, Mar Tintoré, Xavier Montalban
Publikováno v:
Multiple sclerosis (Houndmills, Basingstoke, England). 28(7)
Background: The effect of disease-modifying therapies on severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine response is unclear. Objectives: We aim to determine the immunological responses to SARS-CoV-2 in multiple sclerosis (MS) an
Autor:
Juan Carlos Calderón López, Ramon Orriols, Sara Rodriguez-Requejo, Josep-Maria Sirvent, Abelardo Hurtado-Ganoza, Delfi Faixedas-Brunsoms, Marc Bonnin-Vilaplana, Francesc Xavier Queralt Moles, Marc Comas-Cufí, Esteve Avellana-Revuelta, Ana del Cielo Pérez-Jaén, Jordi Solé Blanch, Ester Fages-Masmiquel, Maria Angels Gispert-Ametller, Gladis Sabater-Talaverano, Ruth Martí-Lluch, Ferran Santaularia-Font, Elisabet Balló, Anna Guell-Cargol, Carol Lorencio, Maria Rodriguez-Batista, Patricia Ortiz-Ballujera, Anna Ponjoan, Josep Miquel Morales-Pedrosa, Lia Alves-Cabratosa, Rafel Ramos, Antoni Castro-Guardiola, Maria Rexach-Fumaña
Publikováno v:
JMIR Public Health and Surveillance
Scientia
Scientia
Background A description of individuals with SARS-CoV-2 infection comparing the first and second waves could help adapt health services to manage this highly transmissible infection. Objective We aimed to describe the epidemiology of individuals with
Autor:
Xavier Queralt, Maria Buxó, María José Ferri, Isabel Serra, Carme López, Mercè Alsius, D. Acero
Publikováno v:
Gastroenterología y Hepatología (English Edition). 42:82-89
The cytoplasmic rods-rings (RR) pattern is found in hepatitis C (HCV) patients treated with interferon-ribavirin when studied with ANA-IIF. Ribavirin aggregates/induces antigenic changes in IMPDH-2, an enzyme necessary for ribavirin action.Prospectiv
Autor:
Lia Alves-Cabratosa, Marc Comas-Cufí, Jordi Blanch, Ruth Martí-Lluch, Anna Ponjoan, Antoni Castro-Guardiola, Abelardo Hurtado-Ganoza, Ana Pérez-Jaén, Maria Rexach-Fumaña, Delfi Faixedas-Brunsoms, Maria Angels Gispert-Ametller, Anna Guell-Cargol, Maria Rodriguez-Batista, Ferran Santaularia-Font, Ramon Orriols, Marc Bonnin-Vilaplana, Juan Carlos Calderón López, Gladis Sabater-Talaverano, Francesc Xavier Queralt Moles, Sara Rodriguez-Requejo, Esteve Avellana-Revuelta, Elisabet Balló, Ester Fages-Masmiquel, Josep-Maria Sirvent, Carol Lorencio, Josep Miquel Morales-Pedrosa, Patricia Ortiz-Ballujera, Rafel Ramos
BACKGROUND A description of individuals with SARS-CoV-2 infection comparing the first and second waves could help adapt health services to manage this highly transmissible infection. OBJECTIVE We aimed to describe the epidemiology of individuals with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1e321ad97fe4d2383fc2ecbce5e426c
https://doi.org/10.2196/preprints.30006
https://doi.org/10.2196/preprints.30006
Autor:
J O Miquel-Cusachs, Antoni Castells, Xavier Queralt-Moles, Anna Bahí, Lia Oliver, Pau Gilabert, Jordi Guardiola, Virginia Piñol, Manel Ramirez, L. Jesús Garcia-Gil, Joan Saló, Xavier Aldeguer, Mariona Serra-Pagès, Marta Serrano, Joan Amoedo, Marta Malagón, Sara Ramió-Pujol
Publikováno v:
PLoS One, 2020, vol. 15, núm. 12, p. e0243158
Articles publicats (D-B)
Malagón Rodríguez, Marta Ramió Pujol, Sara Serrano, Marta Amoedo, Joan Oliver, Lia Bahí, Anna Miquel Cusachs, Josep Oriol Ramírez, Manel Queralt Moles, Xavier Gilabert, Pau Saló, Joan Guardiola, Jordi Piñol Sánchez, Virgínia Serra Pagès, Mariona Castells, Antoni Aldeguer i Manté, Xavier Garcia-Gil, L. J. 2020 New fecal bacterial signature for colorectal cancer screening reduces the fecal immunochemical test false-positive rate in a screening population PLoS One 15 12 e0243158
DUGiDocs – Universitat de Girona
instname
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS ONE, Vol 15, Iss 12, p e0243158 (2020)
PLoS ONE
Articles publicats (D-B)
Malagón Rodríguez, Marta Ramió Pujol, Sara Serrano, Marta Amoedo, Joan Oliver, Lia Bahí, Anna Miquel Cusachs, Josep Oriol Ramírez, Manel Queralt Moles, Xavier Gilabert, Pau Saló, Joan Guardiola, Jordi Piñol Sánchez, Virgínia Serra Pagès, Mariona Castells, Antoni Aldeguer i Manté, Xavier Garcia-Gil, L. J. 2020 New fecal bacterial signature for colorectal cancer screening reduces the fecal immunochemical test false-positive rate in a screening population PLoS One 15 12 e0243158
DUGiDocs – Universitat de Girona
instname
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS ONE, Vol 15, Iss 12, p e0243158 (2020)
PLoS ONE
Guidelines recommend routine screening for colorectal cancer (CRC) in asymptomatic adults starting at age 50. The most extensively used noninvasive test for CRC screening is the fecal immunochemical test (FIT), which has an overall sensitivity for CR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7270f9f289880df742de405b2cc8c932
http://hdl.handle.net/10256/18762
http://hdl.handle.net/10256/18762