Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Izaskun Rubio"'
Autor:
Elena Aguirre, Santiago González-Santiago, Leire Andrés, Judith Balmaña, Gemma Llort, Izaskun Rubio, Maria-Isabel Tejada, Cristina Martínez-Bouzas, Eduardo Ibáñez-Feijoo, Hiart Maortua, Pilar Blay
Publikováno v:
Oncology. 91:171-176
Objective: Endometrial cancer is the second most frequent neoplasm in women with Lynch syndrome (LS). We sought to assess whether analyzing women with endometrial cancer would identify families with LS not identified with current clinical criteria. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51d5e862bb7ff16d1d65905293ee3fc7
https://doi.org/10.1159/000447972
https://doi.org/10.1159/000447972
Autor:
Izaskun Rubio, Encarna Guillen, Hiart Maortua, Maria-Rosario Domingo, Ainhoa García-Ribes, Miriam Guitart, Maria-Isabel Tejada, M. Martinez, María-Asunción López-Aríztegui, María-Teresa Calvo, María-Pilar Botella, Cristina Martínez-Bouzas, Elisabeth Gabau, Blanca Gener
Publikováno v:
The Journal of Molecular Diagnostics. 15:723-729
The MECP2 gene located on Xq28 is one of the most important genes contributing to the spectrum of neurodevelopmental disorders. Therefore, we present our experience in the molecular study of this gene. MECP2 was thoroughly tested for the presence of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8ef72693efeafa8eac951fc204d24ae4
https://doi.org/10.1016/j.jmoldx.2013.05.002
https://doi.org/10.1016/j.jmoldx.2013.05.002
Autor:
Izaskun Rubio Ollo, Cristina Prieto Valtuille, Miguel Rueda Gutiérrez, Arantza Arza Ruesga, Raquel Pérez Garay, Antonio López-Urrutia Fernández, Amaia García de Vicuña
Publikováno v:
Revista del Laboratorio Clínico. 3:37-39
Resumen Los cistoadenomas hepatobiliares (CB) son tumores quisticos infrecuentes del epitelio biliar hepatico. Debido a su clinica y pruebas de imagen inespecificas compatibles con otras lesiones quisticas hepaticas, el diagnostico preoperatorio es d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::415c29079e640fc6e1fa2ab6c527e666
https://doi.org/10.1016/j.labcli.2009.06.006
https://doi.org/10.1016/j.labcli.2009.06.006
Autor:
Izaskun Rubio Ollo, Mercedes Regulez Uranga, Cristina Prieto Valtuille, Raquel Pérez Garay, A. López-Urrutia Fernández, Begoña Basauri Elorza
Publikováno v:
Revista del Laboratorio Clínico. 1:68-70
Hemophagocytic syndrome or hemophagocytic lymphohistiocytosis is a severe, rare and possibly mis-diagnosed syndrome. It is characterized by an exaggerated inflammatory response due to the activation of macrophages and T lymphocytes, and diagnosis and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af5b02960efc3b3d718695f1bdf27705
https://doi.org/10.1016/j.labcli.2008.06.001
https://doi.org/10.1016/j.labcli.2008.06.001
Autor:
Hiart, Maortua, Cristina, Martínez-Bouzas, Ainhoa, García-Ribes, María-Jesus, Martínez, Encarna, Guillen, María-Rosario, Domingo, María-Teresa, Calvo, Miriam, Guitart, Elisabeth, Gabau, María-Pilar, Botella, Blanca, Gener, Izaskun, Rubio, María-Asunción, López-Aríztegui, María-Isabel, Tejada
Publikováno v:
The Journal of molecular diagnostics : JMD. 15(5)
The MECP2 gene located on Xq28 is one of the most important genes contributing to the spectrum of neurodevelopmental disorders. Therefore, we present our experience in the molecular study of this gene. MECP2 was thoroughly tested for the presence of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6befbabc2f8f8ead9914cf9b87564325
https://pubmed.ncbi.nlm.nih.gov/23810759
https://pubmed.ncbi.nlm.nih.gov/23810759
Autor:
Cristina Martínez-Bouzas, Maria-Isabel Tejada, M. Martinez, Maria-Rosario Domingo, Nerea Puente, María-Teresa Calvo, Feliciano J. Ramos, María-Asunción López-Aríztegui, Hiart Maortua, Ainhoa García-Ribes, Izaskun Rubio
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 13, Iss 1, p 68 (2012)
BMC Medical Genetics, Vol 13, Iss 1, p 68 (2012)
Background Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months. Methods We
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a59d8fd68c4439b1e87e0c52759dd12
https://doi.org/10.1186/1471-2350-13-68
https://doi.org/10.1186/1471-2350-13-68