Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Alfredo Santana Rodríguez"'
Autor:
Yeray Nóvoa Medina, Ángela Domínguez García, Sofía Quinteiro González, Loida María García Cruz, Alfredo Santana Rodríguez
Publikováno v:
Anales de Pediatría, Vol 95, Iss 2, Pp 93-100 (2021)
Resumen: Introducción: El hiperinsulinismo congénito (HC) es una patología seria caracterizada por la aparición de hipoglucemias graves. Las mutaciones patogénicas en los genes ABCC8 y KCNJ11 son la causa más frecuente, aunque también se han d
Externí odkaz:
https://doaj.org/article/9455d4a2cbcf4ccdae6c4f8ce63ee2f1
Autor:
Yeray Nóvoa-Medina, Angela Domínguez García, Sofía Quinteiro González, Loida María García Cruz, Alfredo Santana Rodríguez
Publikováno v:
Anales de Pediatría (English Edition), Vol 95, Iss 2, Pp 93-100 (2021)
Introduction: Congenital hyperinsulinism (CH) is a severe disorder characterised by the appearance of severe hypoglycaemia. Pathogenic mutations in the ABCC8 and KCNJ11 genes are the most frequent cause, although its appearance also been associated t
Externí odkaz:
https://doaj.org/article/3ab0803ddd0f488c8a096991938f6789
Autor:
Angela Domínguez García, Yeray Nóvoa-Medina, Sofía Quinteiro González, Loida María García Cruz, Alfredo Santana Rodríguez
Publikováno v:
Anales de Pediatría (English Edition), Vol 95, Iss 2, Pp 93-100 (2021)
Introduction: Congenital hyperinsulinism (CH) is a severe disorder characterised by the appearance of severe hypoglycaemia. Pathogenic mutations in the ABCC8 and KCNJ11 genes are the most frequent cause, although its appearance also been associated t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df7a26fb147823d74012734bf2716480
https://doi.org/10.1016/j.anpede.2020.08.006
https://doi.org/10.1016/j.anpede.2020.08.006
Autor:
Jose Ángel García-Hernández, R. Garcia-Delgado, Loida María García Cruz, Raul Rodriguez-Rodriguez, Alfredo Santana Rodríguez, Raquel Garcia-Rodriguez, Azahar Romero-Requejo, Margarita Medina-Castellano
Publikováno v:
The Journal of Maternal-Fetal & Neonatal Medicine. 35:2162-2165
Greig Cephalopolysyndactyly Syndrome (GCPS) is a very rare multiple congenital anomaly with an estimated incidence of 1-9:1,000,000 in newborns with principal findings of macrocephaly, ocular hypertelorism, and polysyndactyly (preaxial or mixed preax
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b14d85e8f4d9ef864e78857dd03ed3a
https://doi.org/10.1080/14767058.2020.1774541
https://doi.org/10.1080/14767058.2020.1774541
Autor:
Ángeles Oviedo Santos, Ángel Ramos Macías, Alfredo Santana Rodríguez, Mercedes Valido Quintana, Silvia Borkoski Barreiro
Publikováno v:
Acta Otorrinolaringologica (English Edition). 68:157-163
Introduction and objective Sixty percent of prelingual hearing loss is of genetic origin. A family history of permanent childhood hearing loss is a risk factor. The objective of the study is to determine the relationship between this risk factor and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::51b50751fc543b32bfbce54b55bed8d2
https://doi.org/10.1016/j.otoeng.2016.08.001
https://doi.org/10.1016/j.otoeng.2016.08.001
Autor:
Alfredo Santana Rodríguez, Silvia Borkoski Barreiro, Ángel Ramos Macías, Ángeles Oviedo Santos, Mercedes Valido Quintana
Publikováno v:
Acta Otorrinolaringológica Española. 68:157-163
Resumen Introduccion y objetivo El 60% de las hipoacusias prelinguales tienen un origen genetico. Entre los factores de riesgo se encuentra el antecedente familiar de hipoacusia permanente en la infancia. El objetivo del estudio es conocer la relacio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f9e0e452beca3a92a6b971df3f1a1b8c
https://doi.org/10.1016/j.otorri.2016.08.001
https://doi.org/10.1016/j.otorri.2016.08.001
Autor:
Francisco Romero-Santana, Alfredo Santana-Rodríguez, Miguel Hervás-García, Loida García-Cruz, Nieves Jaén-Sánchez, José Luis Pérez-Arellano
Publikováno v:
Revista Española de Casos Clínicos en Medicina Interna. 3:127-129
La fiebre mediterránea familiar es una enfermedad autoinflamatoria caracterizada por episodios recurrentes de fiebre e inflamación estéril de membranas serosas, articulaciones y/o piel. El gen afectado es MEFV, que codifica una proteína denominad
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b5d1945ac9e5bdda4a24b17afedb1717
https://doi.org/10.32818/reccmi.a3n3a9
https://doi.org/10.32818/reccmi.a3n3a9
Autor:
Margarita Medina Castellano, Julio Perez Gonzalez, Alfredo Santana Rodríguez, Yeray Novoa Medina, Carmen Palma Milla, Raquel García Delgado, Raquel García Rodríguez, Loida María García Cruz, José Ángel García Hernández, Juan López Siles
Publikováno v:
Prenatal diagnosis. 39(6)
Solitary median maxillary central incisor (SMMCI) syndrome is a complex disorder consisting of multiple, developmental defects involving midline structures of the head, which includes the cranial bones, the maxilla, and its container dentition (speci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::949d789795028de10b7c11a3fce5068f
https://pubmed.ncbi.nlm.nih.gov/30900264
https://pubmed.ncbi.nlm.nih.gov/30900264
Publikováno v:
Medicina Clínica (English Edition). 152:242-243
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ffeca9c8d70fd71e405f958bcaa99543
https://doi.org/10.1016/j.medcle.2018.04.013
https://doi.org/10.1016/j.medcle.2018.04.013
Publikováno v:
Medicina Clínica. 152:242-243
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bc12cb6a84e8f86e0635f840e9679c03
https://doi.org/10.1016/j.medcli.2018.04.022
https://doi.org/10.1016/j.medcli.2018.04.022