المؤلفون: Miriam Aza-Carmona, Veronica Barca-Tierno, Alfonso Hisado-Oliva, Alberta Belinchón, Darya Gorbenko-del Blanco, Jose Ignacio Rodriguez, Sara Benito-Sanz, Angel Campos-Barros, Karen E Heath

المصدر: PLoS ONE, Vol 9, Iss 1, p e83104 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24421874/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/89a138f2f118481c9cfa442111c15dd6

المؤلفون: Carmen-María García-Herrero, Oscar Rubio-Cabezas, Sharona Azriel, Angel Gutierrez-Nogués, Angel Aragonés, Olivier Vincent, Angel Campos-Barros, Jesús Argente, María-Angeles Navas

المصدر: PLoS ONE, Vol 7, Iss 1, p e30518 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/22291974/?tool=EBI; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/922a1fa58b42429c864ff12388c797d1

المؤلفون: Silvia Modamio-Høybjør, Isabel González-Casado, Angel Campos-Barros, Francisca Díaz-González, José Antonio Bermúdez de la Vega, Fernando Santos-Simarro, Atilano Carcavilla, Ana C Barreda-Bonis, Carolina de la Torre, Purificación Ros-Pérez, Inés Mulero-Collantes, Sara Benito-Sanz, Angela del Pozo, Mario Solís, Jesús González de Buitrago Amigo, Julián Nevado, Lucia Sentchordi-Montané, André M. Travessa, Pablo Prieto, Miriam Aza-Carmona, Pilar Bahíllo-Curieses, Elena Vallespín, Jaime Cruz-Rojo, Manuel Parrón-Pajares, Joaquín Ramírez-Fernández, Karen E. Heath, Pablo Ruiz-Ocaña, Carlos Goetz, Carolina Bezanilla-López

المصدر: European Journal of Endocrinology. 185:691-705

مصطلحات موضوعية: Male, Proband, Heterozygote, medicine.medical_specialty, Adolescent, Skeletal anomalies, Endocrinology, Diabetes and Metabolism, Dwarfism, Osteochondrodysplasias, Bioinformatics, Short stature, Bone and Bones, Endocrinology, Internal medicine, Prevalence, Humans, Medicine, Growth Plate, Child, Gene, High prevalence, Anthropometry, business.industry, Genetic Variation, High-Throughput Nucleotide Sequencing, Infant, General Medicine, medicine.disease, Body Height, Pedigree, PTPN11, Dysplasia, Child, Preschool, Female, medicine.symptom, business, General Economics, Econometrics and Finance

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfa82ec02866d87f9d31b040bb8675c7
https://doi.org/10.1530/eje-21-0557

المؤلفون: Rocio Garcia-Carbonero, Angel Campos-Barros, Juan Ángel Fresno Vara, Miriam Cuatrecasas, Rocío López-Vacas, Jaime Feliu, Laura G-Pastrián, Ricardo Ramos-Ruiz, Jaume Capdevila, Angelo Gámez-Pozo, Carles Conill, Cristina Peña, Pilar García-Alfonso, Ismael Ghanem, Carlos Llorens, Joan Maurel, Marta Mendiola, Victoria Heredia-Soto, Lucía Trilla-Fuertes

المساهمون: Institut Català de la Salut, [Trilla-Fuertes L] Biomedica Molecular Medicine SL, Madrid, Spain. [Gámez-Pozo A] Biomedica Molecular Medicine SL, Madrid, Spain. Molecular Oncology and Pathology Lab, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain. [Maurel J] Medical Oncology Department, Hospital Clinic of Barcelona, Translational Genomics and Targeted Therapeutics in Solid Tumors Group, IDIBAPS, University of Barcelona, Barcelona, Spain. [Garcia-Carbonero R] Medical Oncology Department, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), UCM, CNIO, CIBERONC, Hospital Universitario 12 de Octubre, Madrid, Spain. [Capdevila J] Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [G-Pastrián L] Pathology Department, Hospital Universitario La Paz, Madrid, Spain. Molecular Pathology and Therapeutic Targets Group, Hospital Universitario La Paz-IdiPAZ, Madrid, Spain, Vall d'Hebron Barcelona Hospital Campus

المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientific Reports
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Scientia

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, Anal Carcinoma, medicine.medical_treatment, Other subheadings::Other subheadings::/drug therapy [Other subheadings], 0302 clinical medicine, Antineoplastic Agents, Immunological, Antineoplastic Combined Chemotherapy Protocols, neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales::neoplasias del recto::neoplasias del ano [ENFERMEDADES], Copy-number variation, Molecular Targeted Therapy, Neoplasm Metastasis, Cancer, Aged, 80 and over, Clinical Trials as Topic, Multidisciplinary, Standard treatment, Panitumumab, Medical genetics, Middle Aged, Anus Neoplasms, Prognosis, Combined Modality Therapy, Genetic Phenomena::Genetic Variation [PHENOMENA AND PROCESSES], Treatment Outcome, 030220 oncology & carcinogenesis, Cohort, Carcinoma, Squamous Cell, Medicine, Female, medicine.drug, Adult, medicine.medical_specialty, Science, Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores], Predictive markers, Article, 03 medical and health sciences, Càncer - Anus - Aspectes genètics, Internal medicine, Càncer - Anus - Tractament, Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms::Rectal Neoplasms::Anus Neoplasms [DISEASES], fenómenos genéticos::variación genética [FENÓMENOS Y PROCESOS], Exome Sequencing, medicine, Biomarkers, Tumor, Humans, Aged, Neoplasm Staging, business.industry, Anal Squamous Cell Carcinoma, Genetic Variation, Clinical trial, Radiation therapy, 030104 developmental biology, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9a6dd54a011b21bead20456d7f650a5
https://doaj.org/article/d4fe26f9fdff4908953ce34c605cf410

المؤلفون: Pablo Lapunzina-Badía, Sabina Domene, Angel Campos Barros, Hector Jasper, Julia F Castro, Laura Ramirez, Ayelen Martin, Claudia Arberas, Barbara Casali, Julián Nevado Blanco, María Gabriela Ropelato, Estefania Landi, Debora Braslavsky, Ignacio Bergadá, Patricia Pennisi, Romina Armando, Ana Keselman, María Gabriela Ballerini, Mariana Gutierrez, Rodolfo Rey, Paula Scaglia, Graciela Del Rey, Horacio M. Domené, Nora Sanguineti, Hamilton Cassinelli

المصدر: European Journal of Endocrinology. 181:K43-K53

مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Microcephaly, Endocrinology, Diabetes and Metabolism, IGFBP3, Intrauterine growth restriction, 030209 endocrinology & metabolism, General Medicine, Gene mutation, Biology, medicine.disease, Short stature, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, 030220 oncology & carcinogenesis, Internal medicine, medicine, Small for gestational age, Missense mutation, medicine.symptom, hormones, hormone substitutes, and hormone antagonists, SNP array

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::931829250f0ae1f39d0d31b506ba05d0
https://doi.org/10.1530/eje-19-0563

المؤلفون: Isabel González Casado, Cristina Mora Palma, Luis Salamanca Fresno, Miguel Sáenz de Pipaón Marcos, Angel Campos Barros, Nerea Itza Martin

المصدر: Journal of the Endocrine Society

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Endocrinology, Diabetes and Metabolism, medicine.disease, Diabetes Mellitus and Glucose Metabolism, Ketotic hypoglycemia, Transient Hyperinsulinism, Endocrinology, Internal medicine, Metabolic Disease in Children, medicine, Diazoxide, business, AcademicSubjects/MED00250, After treatment, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::962bed05e02d8ff2dfe1ce264367e933
https://doi.org/10.1210/jendso/bvab048.924

المؤلفون: 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

المصدر: Anales de Pediatría, Vol 86, Iss 5, Pp 255-263 (2017)
Zaguán. Repositorio Digital de la Universidad de Zaragoza
instname

مصطلحات موضوعية: Congenital central hypoventilation syndrome, Registry, 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, 030225 pediatrics, Pediatrics, Perinatology and Child Health, Health care, PHOX2B, Rare disease, Pediatrics, RJ1-570

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1e16ca76a83608b43be508db0767c1e
https://doi.org/10.1016/j.anpedi.2016.05.008

المؤلفون: Silvia Rodríguez Torres, María Angeles García Teresa, Diego García Urabayen, Raquel Porto Abal, Ha Trang, Silvia García Martínez, Angel Campos Barros

المصدر: Anales de Pediatría (English Edition), Vol 86, Iss 5, Pp 255-263 (2017)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Cross-sectional study, Eye disease, Asistencia sanitaria, Late onset, Neonatal onset, Congenital central hypoventilation syndrome, PHOX2B, RJ1-570, Síndrome de hipoventilación central congénita, 03 medical and health sciences, 0302 clinical medicine, Management of Technology and Innovation, medicine, 030212 general & internal medicine, Young adult, business.industry, Enfermedad rara, medicine.disease, Hypoventilation, 030228 respiratory system, medicine.symptom, Registro, business, Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b7f4d8cf0a473069b1c54fb67cdd649
http://www.sciencedirect.com/science/article/pii/S234128791730073X

المؤلفون: Elena Vallespín, Sonia Rodríguez-Nóvoa, Angela del Pozo, Dolores Lledín, Pablo Lapunzina, Carmen Camarena, Rocío Mena, Carmen Rodríguez-Jiménez, Fernando Santos-Simarro, Angel Campos-Barros

المصدر: Molecular Genetics and Metabolism Reports, Vol 10, Iss C, Pp 52-55 (2017)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid

مصطلحات موضوعية: 0301 basic medicine, chemistry.chemical_classification, Genetics, lcsh:R5-920, In silico, New variant, Biology, medicine.disease, Molecular biology, DNA sequencing, Amino acid, 03 medical and health sciences, Exon, 030104 developmental biology, Endocrinology, chemistry, lcsh:Biology (General), medicine, Missense mutation, Glycogen storage disease, lcsh:Medicine (General), Molecular Biology, Gene, lcsh:QH301-705.5

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c13e45e453677bb754c2ecf3c6de034
http://www.sciencedirect.com/science/article/pii/S2214426916301112

المؤلفون: Francisco Javier Rodriguez-Contreras, Álvaro Martín-Rivada, Mª. Teresa Muñoz-Calvo, Angel Campos-Barros, Maria Guemes, J. Pozo, Jesús Argente, Isabel González-Casado

المصدر: Growth hormoneIGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society. 44

مصطلحات موضوعية: 0301 basic medicine, Male, Pathology, medicine.medical_specialty, animal structures, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Zinc Finger Protein Gli2, Genetic analysis, Hypopituitarism, Frameshift mutation, 03 medical and health sciences, Exon, 0302 clinical medicine, Endocrinology, GLI2, medicine, Humans, Abnormalities, Multiple, Frameshift Mutation, Gene, Polydactyly, business.industry, Infant, Newborn, Nuclear Proteins, Syndrome, medicine.disease, Prognosis, Phenotype, Cleft Palate, 030104 developmental biology, Mutation (genetic algorithm), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::444d2d9ce6d1c1a67c76f42c42f097e2
https://pubmed.ncbi.nlm.nih.gov/30583238