Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Ignacio, Arroyo Carrera"'
Autor:
Ignacio Arroyo Carrera, Carlos Manuel Ojeda Espino, Rafael Ayuso Velasco, Yoana Franco Rodríguez
Publikováno v:
Anales de Pediatría (English Edition), Vol 100, Iss 4, Pp e26-e27 (2024)
Externí odkaz:
https://doaj.org/article/b13bb7ca92f24e3393e7bd22a0ea7b15
Autor:
Ignacio Arroyo Carrera, Carlos Manuel Ojeda Espino, Rafael Ayuso Velasco, Yoana Franco Rodríguez
Publikováno v:
Anales de Pediatría, Vol 95, Iss 3, Pp 211-212 (2021)
Externí odkaz:
https://doaj.org/article/991cacdd2c6a4f828d65af620eaca22e
Autor:
Jair Tenorio, Pablo Lapunzina, Elena Márquez Isidro, Verónica Deyanira García Navas, Ignacio Arroyo Carrera, Miguel Fernández-Burriel
Publikováno v:
Clinical Genetics. 99:812-817
Missense and frameshift pathogenic variants and microdeletions involving TBL1XR1 gene have been described in patients with intellectual disability, autism, Rett-like features and schizophrenia, some of them with the clinical diagnosis of Pierpont syn
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7418cae496df02400679dacb59ebd9f
https://doi.org/10.1111/cge.13937
https://doi.org/10.1111/cge.13937
Autor:
Ignacio Arroyo Carrera, María Solo de Zaldívar Tristancho, Verónica Deyanira García-Navas Núñez, Alba Ramajo Polo, Marta Gutiérrez Agujetas
Publikováno v:
Revista de Neurología. 76:111
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::17b2b18e549f2df15cd2c95e08d1d530
https://doi.org/10.33588/rn.7603.2022165
https://doi.org/10.33588/rn.7603.2022165
Autor:
Yoana Franco Rodríguez, Ignacio Arroyo Carrera, Rafael Ayuso Velasco, Carlos Manuel Ojeda Espino
Publikováno v:
Anales de Pediatría, Vol 95, Iss 3, Pp 211-212 (2021)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88498dd2fe68f03a06b901649225a8c8
http://www.sciencedirect.com/science/article/pii/S1695403320305415
http://www.sciencedirect.com/science/article/pii/S1695403320305415
Autor:
Pablo Lapunzina, Jair Tenorio, Ignacio Arroyo Carrera, Verónica Deyanira García Navas, Miguel Fernández-Burriel, Elena Márquez Isidro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bec19424a44990857bec349dc7a9ad9
https://doi.org/10.1111/cge.13937/v2/response1
https://doi.org/10.1111/cge.13937/v2/response1
Autor:
María Angeles García Teresa, Raquel Porto Abal, Silvia Rodríguez Torres, Diego García Urabayen, Silvia García Martínez, Ha Trang, Angel Campos Barros, Ana Llorente de la Fuente, Arturo Hernández González, Amaya Bustinza Arriortua, Jesús de la Cruz Moreno, Martí Pons Odena, Purificación Ventura Faci, Laura Rubio Ortega, Estela Pérez Ruiz, Antonio Aguilar Fernández, Amaya Pérez Ocón, Borja Osona, Isabel Delgado Pecellin, Ignacio Arroyo Carrera, Javier Sayas Catalán, Elvira González Salas, Carlos Martin de Vicente
Publikováno v:
Anales de Pediatría, Vol 86, Iss 5, Pp 255-263 (2017)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname
Introducción El síndrome de hipoventilación central congénita (SHCC) es una enfermedad genética muy rara causada por mutaciones en PHOX2B; en 2010 se creó el Consorcio Europeo del Síndrome de Hipoventilación Central, que en 2012 implantó un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1e16ca76a83608b43be508db0767c1e
https://doi.org/10.1016/j.anpedi.2016.05.008
https://doi.org/10.1016/j.anpedi.2016.05.008
Publikováno v:
Molecular Syndromology. 8:219-223
The Xp22.31 duplication is a copy number variant which is challenging to categorize as pathogenic or benign. There is an increasing number of patients with the duplication and a neurobehavioral phenotype, but the duplication is almost always inherite
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b8e2382047e90b18ada86c24f95ca53
https://doi.org/10.1159/000475795
https://doi.org/10.1159/000475795
Autor:
María Angeles, García Teresa, Raquel, Porto Abal, Silvia, Rodríguez Torres, Diego, García Urabayen, Silvia, García Martínez, Ha, Trang, Angel, Campos Barros, Ana, Llorente de la Fuente, Arturo, Hernández González, Amaya, Bustinza Arriortua, Jesús, de la Cruz Moreno, Martí, Pons Odena, Purificación, Ventura Faci, Laura, Rubio Ortega, Estela, Pérez Ruiz, Antonio, Aguilar Fernández, Amaya, Pérez Ocón, Borja, Osona, Isabel, Delgado Pecellin, Ignacio, Arroyo Carrera, Javier, Sayas Catalán, Elvira, González Salas, Carlos Martin, de Vicente
Publikováno v:
Anales de pediatria (Barcelona, Spain : 2003). 86(5)
Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care.To determine the characteristics a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::37ba8f261e3d06aab916c5813744941a
https://pubmed.ncbi.nlm.nih.gov/27377324
https://pubmed.ncbi.nlm.nih.gov/27377324
Autor:
Thomas Eggermann, María Solo de Zaldívar, Matthias Begemann, Lukas Soellner, Ignacio Arroyo Carrera, Rebeca Martín
Publikováno v:
American journal of medical genetics. Part A. 170(3)
The association of maternal uniparental disomy of human chromosome 7 (upd(7) mat) and the growth retardation disorder Silver-Russell syndrome (SRS) is well established, but the causative gene or region is currently unknown. However, several observati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::380ebdc475ce0b50c1d5cafe348e5b6c
https://pubmed.ncbi.nlm.nih.gov/26663145
https://pubmed.ncbi.nlm.nih.gov/26663145