Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Nerea Gorria"'
Autor:
Yerai Vado, Javier Errea-Dorronsoro, Isabel Llano-Rivas, Nerea Gorria, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda, Guiomar Perez de Nanclares
Publikováno v:
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-7 (2018)
Abstract Background Silver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SR
Externí odkaz:
https://doaj.org/article/250a2e1e493d4eebb1acf7c8e58d9c14
Autor:
Nerea Gorria-Redondo, Arrate Pereda, Isabel Llano-Rivas, Guiomar Perez de Nanclares, Ignacio Díez, Yerai Vado
Publikováno v:
Genes, Vol 11, Iss 1461, p 1461 (2020)
Genes
Genes
Silver–Russell syndrome (SRS) is a rare growth-related genetic disorder that is mainly associated with prenatal and postnatal growth retardation. Molecular causes are not clear in all cases, the most common ones being loss of methylation on chromos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd42f95ee21a2a8168e635f78bcdf3ac
https://www.mdpi.com/2073-4425/11/12/1461
https://www.mdpi.com/2073-4425/11/12/1461
Autor:
Isabel Llano-Rivas, Arrate Pereda, Blanca Gener, Laura Garcia-Naveda, Guiomar Perez de Nanclares, Nerea Gorria, Yerai Vado, Javier Errea-Dorronsoro
Publikováno v:
Addi. Archivo Digital para la Docencia y la Investigación
instname
BMC Medical Genomics
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-7 (2018)
instname
BMC Medical Genomics
BMC Medical Genomics, Vol 11, Iss 1, Pp 1-7 (2018)
BackgroundSilver-Russell Syndrome (SRS) is a rare growth-related genetic disorder mainly characterized by prenatal and postnatal growth failure. Although molecular causes are not clear in all cases, the most common mechanisms involved in SRS are loss
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95f21cef9be4533e2941c84593d26ebe
http://hdl.handle.net/10810/30910
http://hdl.handle.net/10810/30910
Autor:
María Luz Angulo García, María Montesclaros Hortigüela Saeta, David Conejo Moreno, Nerea Gorria Redondo
Publikováno v:
Anales de Pediatría, Vol 84, Iss 6, Pp 341-343 (2016)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4230c3d52e4eeba5c112e8be467e4cf4
http://www.sciencedirect.com/science/article/pii/S1695403315004099
http://www.sciencedirect.com/science/article/pii/S1695403315004099
Autor:
María Luz Angulo García, Nerea Gorria Redondo, María Montesclaros Hortigüela Saeta, David Conejo Moreno
Publikováno v:
Anales de Pediatría (English Edition), Vol 84, Iss 6, Pp 341-343 (2016)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7756e879aeb0cc4a20c2de764bc133bb
http://www.sciencedirect.com/science/article/pii/S2341287916300680
http://www.sciencedirect.com/science/article/pii/S2341287916300680
Autor:
Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marín, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espinós
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 22, p 16400 (2023)
Cerebellar atrophy (CA) is a frequent neuroimaging finding in paediatric neurology, usually associated with cerebellar ataxia. The list of genes involved in hereditary forms of CA is continuously growing and reveals its genetic complexity. We investi
Externí odkaz:
https://doaj.org/article/c8660caec2e042389e3df754914ed614
Autor:
Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Cristina Tello, Clara Marco-Marín, Itxaso Martí-Carrera, María Jesús Martínez-González, Ainhoa García-Ribes, Raquel Baviera-Muñoz, Isabel Sastre-Bataller, Irene Martínez-Torres, Anna Duat-Rodríguez, Patrícia Janeiro, Esther Moreno, Leticia Pías-Peleteiro, Mar O’Callaghan Gordo, Ángeles Ruiz-Gómez, Esteban Muñoz, Maria Josep Martí, Ana Sánchez-Monteagudo, Candela Fuster, Amparo Andrés-Bordería, Roser Maria Pons, Silvia Jesús-Maestre, Pablo Mir, Vincenzo Lupo, Belén Pérez-Dueñas, Alejandra Darling, Sergio Aguilera-Albesa, Carmen Espinós
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 19, p 11847 (2022)
Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated c
Externí odkaz:
https://doaj.org/article/65e1319d27ad461db2e041f1cb14beef
Autor:
Marcos García-Howard, Mercedes Herranz-Aguirre, Laura Moreno-Galarraga, María Urretavizcaya-Martínez, Josune Alegría-Echauri, Nerea Gorría-Redondo, Laura Planas-Serra, Agatha Schlüter, Marta Gut, Aurora Pujol, Sergio Aguilera-Albesa
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: Non-febrile illness seizures may present in previously healthy children as afebrile seizures associated with minor infections, such as mild gastroenteritis or respiratory tract infections, and are linked to a genetic predisposition. For t
Externí odkaz:
https://doaj.org/article/a4e744d23d03433e838056c6f4410914
Autor:
Paula Sancho, Amparo Andrés-Bordería, Nerea Gorría-Redondo, Katia Llano, Dolores Martínez-Rubio, María Eugenia Yoldi-Petri, Luba Blumkin, Pablo Rodríguez de la Fuente, Fernando Gil-Ortiz, Leonor Fernández-Murga, Ana Sánchez-Monteagudo, Vincenzo Lupo, Belén Pérez-Dueñas, Carmen Espinós, Sergio Aguilera-Albesa
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5, p 2505 (2021)
(1) Background: A non-progressive congenital ataxia (NPCA) phenotype caused by β-III spectrin (SPTBN2) mutations has emerged, mimicking spinocerebellar ataxia, autosomal recessive type 14 (SCAR14). The pattern of inheritance, however, resembles that
Externí odkaz:
https://doaj.org/article/fc6a808cdc5c49769f2b6e655f50897f