Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Ariadna Ayerza-Casas"'
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:
Miguel Fogaça-da-Mata, Estefanía Martínez-Barrios, Lorenzo Jiménez-Montañés, José Cruzalegui, Fredy Chipa-Ccasani, Andrea Greco, Sergi Cesar, Núria Díez-Escuté, Patricia Cerralbo, Irene Zschaeck, Marcos Clavero Adell, Ariadna Ayerza-Casas, Daniel Palanca-Arias, Marta López, Oscar Campuzano, Josep Brugada, Georgia Sarquella-Brugada
Publikováno v:
Genes, Vol 15, Iss 5, p 638 (2024)
Brugada syndrome is a rare arrhythmogenic syndrome associated mainly with pathogenic variants in the SCN5A gene. Right ventricle outflow tract fibrosis has been reported in some cases of patients diagnosed with Brugada syndrome. Pulmonary atresia wit
Externí odkaz:
https://doaj.org/article/5065824ce87a4e329e9012add939d1ae
Autor:
Marcos Clavero-Adell, Daniel Palanca-Arias, Marta López-Ramón, Lorenzo Jimenez-Montañés, Itziar Serrano-Viñuales, Segundo Rite-Gracia, Ariadna Ayerza-Casas
Publikováno v:
The Egyptian Heart Journal, Vol 75, Iss 1, Pp 1-9 (2023)
Abstract Background Bronchopulmonary dysplasia (BPD) is still a major concern in preterm infants and adequate screening methods for secondary right ventricle (RV) failure are needed. Early detection could be aided by taking measurements of RV deforma
Externí odkaz:
https://doaj.org/article/3970d587cfd543c0908204f918861ab1
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:
Ana Latorre-Pellicer, Laura Trujillano, Julia del Rincón, Mónica Peña-Marco, Marta Gil-Salvador, Cristina Lucia-Campos, María Arnedo, Beatriz Puisac, Feliciano J. Ramos, Ariadna Ayerza-Casas, Juan Pié
Publikováno v:
Journal of Clinical Medicine, Vol 12, Iss 12, p 4052 (2023)
Background: PACS1 neurodevelopmental disorder (PACS1-NDD) (MIM# 615009) is a rare autosomal dominant disease characterized by neurodevelopmental delay, dysmorphic facial features, and congenital malformations. Heart disease (HD) is frequently present
Externí odkaz:
https://doaj.org/article/a859ebefea6a49318877fc27c5c206ab
Autor:
Jesús González, Marina Vilella, Sonia Ruiz, Iris Iglesia, Marcos Clavero-Adell, Ariadna Ayerza-Casas, Angel Matute-Llorente, Daniel Oros, Jose Antonio Casajús, Victoria Pueyo, Gerardo Rodriguez, Cristina Paules
Publikováno v:
Diagnostics, Vol 13, Iss 6, p 1101 (2023)
Introduction: Suspected preterm labor (SPL), defined as the presence of regular and painful uterine contractions and cervical shortening, represents a prenatal insult with potential long-term consequences. However, despite recent evidence demonstrati
Externí odkaz:
https://doaj.org/article/4c3c605214604510b34dbf88a66f9191
Autor:
Tamara Moliner-Morón, Rebeca Santiago-Cortés, Ariadna Ayerza-Casas, Marcos Clavero-Adell, Lorenzo Jiménez-Montañés, Daniel Palanca-Arias
Publikováno v:
Boletín Médico del Hospital Infantil de México, Vol 79, Iss 5 (2022)
Background: Atrial flutter is a rare condition in pediatrics that usually occurs as a late complication after surgery for congenital heart diseases, although it can also appear in structurally normal hearts. Clinical cases: We conducted a retrospecti
Externí odkaz:
https://doaj.org/article/a16a9b6f50464c2a96b20507e15b1562
Autor:
Ana Latorre‐Pellicer, Ángela Ascaso, Cristina Lucia‐Campos, Marta Gil‐Salvador, María Arnedo, Rebeca Antoñanzas, Ariadna Ayerza‐Casas, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Feliciano J. Ramos, Juan Pié, Beatriz Puisac
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Externí odkaz:
https://doaj.org/article/d2544346b8a54870926ddcae5b29c011
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:
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