Zobrazeno 1 - 6
of 6
pro vyhledávání: '"José M Cabezas-Agrícola"'
Autor:
David Araújo-Vilar, Samuel I. Pascual-Pascual, José M. Cabezas-Agrícola, Angel Díaz-Pérez, Ana M. Ramos-Leví, María-Jesús Sobrido, Patricia Blanco-Arias, Sergio Piñeiro-Hermida
Publikováno v:
Muscle & Nerve. 46:957-961
Introduction: Multiple endocrine neoplasia type 2 (MEN 2) is an uncommon autosomal dominant cancer syndrome which can be associated with nerve conduction abnormalities. Methods: A 14-year-old boy with a family history of consanguinity developed progr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8c02239844a1c2bfc8d914e10220c8a7
https://doi.org/10.1002/mus.23466
https://doi.org/10.1002/mus.23466
Autor:
José, Cameselle-Teijeiro, Carmen, Fachal, José M, Cabezas-Agrícola, Natividad, Alfonsín-Barreiro, Ihab, Abdulkader, Ana, Vega-Gliemmo, José Antonio, Hermo
Publikováno v:
American journal of clinical pathology. 144(2)
PTEN hamartoma tumor syndrome (PHTS) is a hereditary disorder caused by germline inactivating mutations of the PTEN gene. PHTS includes Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. We describe how the peculiar pathologic and immunohistochem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e11290fc4fe4af3dcc4f49635cb9a05c
https://pubmed.ncbi.nlm.nih.gov/26185318
https://pubmed.ncbi.nlm.nih.gov/26185318
Autor:
José M Cabezas-Agrícola, José L Otero-Cepeda, Maria J. López-Valladares, C. Capeans, Rogelio Conde-Freire, Rosario Touriño, Teresa Rodríguez-Aves
Publikováno v:
International Ophthalmology. 25:101-112
Several kinds of congenital hypertrophy of the retinal pigment epithelium (CHRPE) have been described in patients with familial adenomatous polyposis (FAP). This study aims to assess which properties of CHRPE better predict FAP and investigate whethe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0de251d35d9a3712c7ee97b642f6b90a
https://doi.org/10.1023/b:inte.0000031739.62559.ac
https://doi.org/10.1023/b:inte.0000031739.62559.ac
Autor:
Ana M, Ramos-Leví, Angel, Díaz-Pérez, María-Jesús, Sobrido, Sergio, Piñeiro-Hermida, Patricia, Blanco-Arias, José M, Cabezas-Agrícola, Samuel I, Pascual-Pascual, David, Araújo-Vilar
Publikováno v:
Musclenerve. 46(6)
Multiple endocrine neoplasia type 2 (MEN 2) is an uncommon autosomal dominant cancer syndrome which can be associated with nerve conduction abnormalities.A 14-year-old boy with a family history of consanguinity developed progressive gait clumsiness,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::853acdcd9ae88f52da066172b014989f
https://pubmed.ncbi.nlm.nih.gov/23225389
https://pubmed.ncbi.nlm.nih.gov/23225389
Autor:
José M, Cabezas Agrícola
Publikováno v:
Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion. 56
Gastroenteropancreatic neuroendocrine tumors are relatively rare neoplasms but their incidence has significantly increased in the last 30 years. These tumors are usually sporadic but can also occur as part of certain endocrine tumor susceptibility sy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ed21f9261d15b78bbe0742fb36645b9c
https://pubmed.ncbi.nlm.nih.gov/19627765
https://pubmed.ncbi.nlm.nih.gov/19627765
Autor:
Celsa Quinteiro, Lourdes Loidi, José M. Cabezas-Agrícola, Aurelio M. Sueiro, Domingo G. Lestón, Fernando Domínguez, Lidia Catro-Feijóo, David Araújo-Vilar, Jesus Barreiro, Manuel Pombo, Silvia Parajes, Javier Costas
Publikováno v:
Clinical endocrinology. 64(3)
Summary Objective To detect common as well as rare and novel CYP21A mutations in 21-hydroxylase deficiency patients. To estimate thedistribution of mutations and compare them with other Europeanstudies. To construct haplotypes linked to a recurrent
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d643d1ff493d7008f054420c15eb728d
https://pubmed.ncbi.nlm.nih.gov/16487445
https://pubmed.ncbi.nlm.nih.gov/16487445