Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Gloria Bueno-lozano"'
Autor:
Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, María Arnedo, Ilaria Parenti, Elena Llorente, Juan José Puente-Lanzarote, Ángel Matute-Llorente, Ariadna Ayerza-Casas, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié Juste, Gloria Bueno-Lozano
Publikováno v:
JCRPE, Vol 16, Iss 2, Pp 211-217 (2024)
The aim of this study was to expand knowledge about endocrine disorders in individuals with Cornelia de Lange syndrome (CdLS), a rare developmental genetic disorder with anomalies in multiple organs and systems. Hormone levels, clinical scores, anthr
Externí odkaz:
https://doaj.org/article/7bd73cdcf3334e3ab419baea7aaf29f1
Autor:
Ángela Ascaso, María Arnedo, Beatriz Puisac, Ana Latorre-Pellicer, Julia del Rincón, Gloria Bueno-Lozano, Juan Pié, Feliciano J. Ramos
Publikováno v:
Anales de Pediatría (English Edition), Vol 100, Iss 5, Pp 352-362 (2024)
Cornelia de Lange syndrome (CdLS) is a rare congenital developmental disorder with multisystemic involvement. The clinical presentation is highly variable, but the classic phenotype, characterized by distinctive craniofacial features, pre- and postna
Externí odkaz:
https://doaj.org/article/b32335af8e744f76992bc585fbcb8e14
Autor:
Gloria Pérez-Gimeno, Miguel Seral-Cortes, Sergio Sabroso-Lasa, Luis Mariano Esteban, Empar Lurbe, Laurent Béghin, Frederic Gottrand, Aline Meirhaeghe, Manon Muntaner, Anthony Kafatos, Dénes Molnár, Catherine Leclercq, Kurt Widhalm, Mathilde Kersting, Esther Nova, Diego F. Salazar-Tortosa, Marcela Gonzalez-Gross, Christina Breidenassel, Kathrin Sinningen, Thaïs De Ruyter, Idoia Labayen, Azahara I. Rupérez, Gloria Bueno-Lozano, Luis A. Moreno
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 10 (2023)
IntroductionFrom genome wide association study (GWAS) a large number of single nucleotide polymorphisms (SNPs) have previously been associated with blood pressure (BP) levels. A combination of SNPs, forming a genetic risk score (GRS) could be conside
Externí odkaz:
https://doaj.org/article/01412b0f74104bf292612ed01c030cee
Autor:
Gloria Pérez‐Gimeno, Azahara I. Ruperez, Mercedes Gil‐Campos, Concepción M. Aguilera, Augusto Anguita, Rocío Vázquez‐Cobela, Estela Skapino, Luis A. Moreno, Rosaura Leis, Gloria Bueno‐Lozano
Publikováno v:
The Journal of Clinical Hypertension, Vol 24, Iss 6, Pp 713-722 (2022)
Abstract Due to the absence of easily applicable cut‐off points to determine high blood pressure or hypertension in children, as in the adult population, blood pressure is rarely measured in the pediatrician's clinical routine. This has led to an u
Externí odkaz:
https://doaj.org/article/200f9ef4f0be40059ad60c082ff070ea
Autor:
Andrea Jimeno-Martínez, Ivie Maneschy, Luis A. Moreno, Gloria Bueno-Lozano, Pilar De Miguel-Etayo, Katherine Flores-Rojas, Jose Manuel Jurado-Castro, Carmela de Lamas, Rocio Vázquez-Cobela, Raúl Martinez-Lacruz, Olga Portoles, J. Alfredo Martínez, Santiago Navas-Carretero, Helmut Schröder, Montserrat Fitó, Nancy Babio, Jordi Salas-Salvadó, Rosaura Leis, Mercedes Gil-Campos, Azahara I. Rupérez
Publikováno v:
Frontiers in Psychology, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/6075f095cfca408cb80f4c8a5323bc3b
Autor:
Ana Latorre-Pellicer, Marta Gil-Salvador, Ilaria Parenti, Cristina Lucia-Campos, Laura Trujillano, Iñigo Marcos-Alcalde, María Arnedo, Ángela Ascaso, Ariadna Ayerza-Casas, Rebeca Antoñanzas-Pérez, Cristina Gervasini, Maria Piccione, Milena Mariani, Axel Weber, Deniz Kanber, Alma Kuechler, Martin Munteanu, Katharina Khuller, Gloria Bueno-Lozano, Beatriz Puisac, Paulino Gómez-Puertas, Angelo Selicorni, Frank J. Kaiser, Feliciano J. Ramos, Juan Pié
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Abstract Postzygotic mosaicism (PZM) in NIPBL is a strong source of causality for Cornelia de Lange syndrome (CdLS) that can have major clinical implications. Here, we further delineate the role of somatic mosaicism in CdLS by describing a series of
Externí odkaz:
https://doaj.org/article/44bd90137bd44131872e1f1eb901a15b
Autor:
Andrea Jimeno-Martínez, Ivie Maneschy, Luis A. Moreno, Gloria Bueno-Lozano, Pilar De Miguel-Etayo, Katherine Flores-Rojas, Jose Manuel Jurado-Castro, Carmela de Lamas, Rocio Vázquez-Cobela, Raúl Martinez-Lacruz, Olga Portoles, J. Alfredo Martínez, Santiago Navas-Carretero, Helmut Schröder, Montserrat Fitó, Nancy Babio, Jordi Salas-Salvadó, Rosaura Leis, Mercedes Gil-Campos, Azahara I. Rupérez
Publikováno v:
Frontiers in Psychology, Vol 13 (2022)
IntroductionEating behavior is often established during the first years of life. Therefore, it is important to make a research on it to understand the relationships that children have with food and how this can contribute to prevent the development o
Externí odkaz:
https://doaj.org/article/31347207a97143ab85a3cf8a749e94db
Autor:
María Arnedo, Ángela Ascaso, Ana Latorre-Pellicer, Cristina Lucia-Campos, Marta Gil-Salvador, Ariadna Ayerza-Casas, María Jesús Pablo, Paulino Gómez-Puertas, Feliciano J. Ramos, Gloria Bueno-Lozano, Juan Pié, Beatriz Puisac
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 17, p 9649 (2022)
The Schuurs–Hoeijmakers syndrome (SHMS) or PACS1 Neurodevelopment Disorder (PACS1-NDD) is a rare autosomal dominant disease caused by mutations in the PACS1 gene. To date, only 87 patients have been reported and, surprisingly, most of them carry th
Externí odkaz:
https://doaj.org/article/28b58b60dd944fd2a3f585ad958f3f86
Autor:
Lorena Desdentado, Jaime Navarrete, María Folgado-Alufre, Ana de Blas, Jéssica Navarro-Siurana, Francisco Ponce, Guadalupe Molinari, Andrea Jimeno-Martínez, Azahara I. Rupérez, Gloria Bueno-Lozano, Aida Cuenca-Royo, Emili Corbella, Zaida Agüera, Rosa M. Baños, Julio Álvarez-Pitti
Publikováno v:
Nutrients, Vol 14, Iss 2, p 305 (2022)
Disturbances in eating behaviors have been widely related to obesity. However, little is known about the role of obesity-related biomarkers in shaping habitual patterns of eating behaviors (i.e., eating styles) in childhood. The objective of the pres
Externí odkaz:
https://doaj.org/article/a59f2a47d56b483293a9430e8a018eda
Autor:
Ángel Matute-Llorente, Ángela Ascaso, Ana Latorre-Pellicer, Beatriz Puisac, Laura Trujillano, Elena Llorente, Juan José Puente-Lanzarote, Ariadna Ayerza-Casas, María Arnedo, Luis A. Moreno, Feliciano Ramos, Juan Pié, José A. Casajus, Gloria Bueno-Lozano
Publikováno v:
Applied Sciences, Vol 11, Iss 2, p 710 (2021)
The aim of this study was to evaluate bone health and body composition by dual-energy X-ray absorptiometry (DXA) in individuals with Cornelia de Lange Syndrome (CdLS). Overall, nine individuals with CdLS (five females, all Caucasian, aged 5–38 year
Externí odkaz:
https://doaj.org/article/c44e37c76150434abb8adb4dd102b100