المؤلفون: Nicolás Lundahl Ciano-Petersen, Omar Hamad-Cueto, Hania Drissi-Reyes, Álvaro Doña-Díaz, Guillermina García-Martín

المساهمون: [Ciano-Petersen,NL, García-Martín,G] Neuroimmunology and Neuroinflammation Group, Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, Spain. [Ciano-Petersen,NL, García-Martín,G] Servicio de Neurología, Hospital Regional Universitario de Málaga, Málaga, Spain. [Ciano-Petersen,NL] Andalucía Tech, Facultad de Medicina, Universidad de Málaga, Málaga, Spain. [Ciano-Petersen,NL, García-Martín,G] Red Andaluza de Investigación Clínica y Traslacional en Neurología (Neuro-Reca), Málaga, Spain. [Hamad-Cueto,O] Servicio de Neurología, Hospital Clínico Universitario Virgen de la Victoria, Málaga, Spain. [Drissi-Reyes,H] Servicio de Urgencias, Hospital El Ángel, Málaga, Spain. [Doña-Díaz,Á] UGC Salud Mental, Hospital Universitario Virgen de la Victoria, Málaga, Spain.

المصدر: Frontiers in Immunology
Frontiers in Immunology, Vol 12 (2021)

مصطلحات موضوعية: autoimmune psychosis, Psychosis, Trastornos psicóticos, medicine.medical_treatment, chromosome 22q112 deletion syndrome, Immunology, Arthritis, Case Report, Chromosome 22q112 deletion syndrome, Persons::Persons::Age Groups::Adolescent [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Immune system, Enfermedades autoinmunes, Diseases::Immune System Diseases::Autoimmune Diseases [Medical Subject Headings], medicine, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Chromosome Disorders::22q11 Deletion Syndrome::DiGeorge Syndrome [Medical Subject Headings], Psychiatry and Psychology::Mental Disorders::Schizophrenia and Disorders with Psychotic Features::Psychotic Disorders [Medical Subject Headings], Immunology and Allergy, psychosis, Autoimmune encephalitis, Publication Type::Study Characteristics::Case Reports [Medical Subject Headings], Síndrome de DiGeorge, Diseases::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Encephalitis [Medical Subject Headings], cognitive impairment, business.industry, Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Physiological Effects of Drugs::Immunologic Factors [Medical Subject Headings], Encefalitis, Immunotherapy, RC581-607, medicine.disease, Autoimmune psychosis, Thrombocytopenic purpura, autoimmune encephalitis, Cognitive impairment, Check Tags::Female [Medical Subject Headings], Etiology, Disfunción cognitiva, Immunologic diseases. Allergy, business, Developmental regression

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da2034e74175c309d2f11a79296291d5Test
https://doi.org/10.3389/fimmu.2021.708625Test

المؤلفون: Suarez-Villadat, Borja, Villagra, Ariel, Veiga, Oscar L., Cabanas Sanchez, Veronica, Izquierdo Gómez, Rocío, UP&DOWN Study Group

المساهمون: Didáctica de la Educación Física, Plástica y Musical, On Behalf Of The Up Down Study Group, [Suarez-Villadat,B] Department of Physical Activity and Sport Sciences, Alfonso X el Sabio University, Madrid, Spain. [Villagra,A, Veiga,OL] Department of Physical Education, Sport and Human Movement, Autonomous University of Madrid, Madrid, Spain. [Cabanas-Sanchez,V] IMDEA Food Institute, CEI UAM+CSIC, Madrid, Spain. [Izquierdo-Gomez,R] GALENO Research Group, Department of Physical Education, Faculty of Education Sciences, University of Cádiz, Puerto Real, Cádiz, Spain. [Izquierdo-Gomez,R] Instituto de Investigación e Innovación Biomédica de Cádiz (INiBICA), Cádiz, Spain., This study was supported by the DEP 2010-21662-C04-00 grant from the National Plan for Research, Development and Innovation (R+D+I) MICINNV. V.C.-S. is supported by the Spanish Ministry of Science, Innovation and Universities (IJC2018-038008-I), UAM. Departamento de Educación Física, Deporte y Motricidad Humana

المصدر: Int. J. Environ. Res. Public Health 2021, 18(11), 5521
International Journal of Environmental Research and Public Health, Vol 18, Iss 5521, p 5521 (2021)
RODIN. Repositorio de Objetos de Docencia e Investigación de la Universidad de Cádiz
instname
International Journal of Environmental Research and Public Health
Biblos-e Archivo. Repositorio Institucional de la UAM

مصطلحات موضوعية: Male, Gerontology, Longitudinal study, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Chromosome Disorders::Down Syndrome [Medical Subject Headings], Educación, Health, Toxicology and Mutagenesis, Down syndrome, Physical fitness, Estudios longitudinales, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], 0302 clinical medicine, Aptitud física, Longitudinal Studies, Prospective Studies, 030212 general & internal medicine, accelerometer-based PA, Child, longitudinal study, Ejercicio físico, Large sample, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cross-Sectional Studies [Medical Subject Headings], Anthropology, Education, Sociology and Social Phenomena::Human Activities::Leisure Activities::Recreation::Sports::Athletic Performance::Physical Fitness [Medical Subject Headings], Cardiorespiratory Fitness, Medicine, Persons::Persons::Age Groups::Adult::Young Adult [Medical Subject Headings], Adult, Adolescent, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies::Longitudinal Studies::Prospective Studies [Medical Subject Headings], Physical activity, Check Tags::Male [Medical Subject Headings], Article, Persons::Persons::Age Groups::Adolescent [Medical Subject Headings], Young Adult, 03 medical and health sciences, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies::Longitudinal Studies [Medical Subject Headings], Anthropology, Education, Sociology and Social Phenomena::Human Activities::Exercise [Medical Subject Headings], medicine, Humans, Persons::Persons::Age Groups::Child [Medical Subject Headings], Persons::Persons::Age Groups::Adult [Medical Subject Headings], Exercise, business.industry, Public Health, Environmental and Occupational Health, Health related, Cardiorespiratory fitness, 030229 sport sciences, medicine.disease, Capacidad cardiovascular, Cross-Sectional Studies, Asociación, Síndrome de Down, physical fitness, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0827edda1746f7a22356759a7837939bTest
http://hdl.handle.net/10498/25302Test

المؤلفون: Olveira Casilda, Abuín-Fernández José, Sánchez-Torralvo Francisco José, García-Olivares María, Porras Nuria, Contreras-Bolívar Victoria, Girón María Victoria, Ruiz-García Ignacio, Olveira Gabriel

المساهمون: [Contreras-Bolívar,V, Porras,N, Abuín-Fernández,J, García-Olivares,M, Sánchez-Torralvo,FJ, Ruiz-García,I, Olveira,G] Servicio de Endocrinología y Nutrición, Hospital Regional Universitario de Málaga/Universidad de Málaga, Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, Spain. [Olveira,C, Girón,MV] Servicio de Neumología, Hospital Regional Universitario de Málaga/Universidad de Málaga, Instituto de Investigación Biomédica de Málaga (IBIMA), Málaga, Spain. [Olveira,G] Centro de Investigación Biomédica en Red-Diabetes y Enfermedades Metabólicas asociadas (CIBERDEM), Barcelona, Spain, This research was partially funded by FIMABIS, Fundación Pública Andaluza para la Investigación de Málaga en Biomedicina y Salud.

المصدر: Nutrients
Volume 13
Issue 2
Nutrients, Vol 13, Iss 669, p 669 (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Desnutrición, Chemicals and Drugs::Carbohydrates [Medical Subject Headings], Cystic Fibrosis, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Chemistry Techniques, Analytical::Photometry::Densitometry [Medical Subject Headings], medicine.medical_treatment, Respiratory System, Índice de masa corporal, Cystic fibrosis, Vitaminas, Bone remodeling, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Eating, 0302 clinical medicine, Estado nutricional, Chemicals and Drugs::Lipids::Fatty Acids::Fatty Acids, Unsaturated::Fatty Acids, Omega-3 [Medical Subject Headings], Phenomena and Processes::Digestive System and Oral Physiological Phenomena::Digestive System Physiological Phenomena::Digestive System Processes::Eating [Medical Subject Headings], 030212 general & internal medicine, Phenomena and Processes::Physiological Phenomena::Nutritional Physiological Phenomena::Nutritional Status [Medical Subject Headings], Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Physiological Effects of Drugs::Growth Substances::Micronutrients::Vitamins [Medical Subject Headings], Phenomena and Processes::Metabolic Phenomena::Body Composition [Medical Subject Headings], Body mass index, Bone mineral, Chemicals and Drugs::Macromolecular Substances::Polymers::Biopolymers::Collagen::Fibrillar Collagens::Collagen Type I [Medical Subject Headings], Chemicals and Drugs::Heterocyclic Compounds::Heterocyclic Compounds, 2-Ring::Benzopyrans::Vitamin E::Tocopherols [Medical Subject Headings], Nutrition and Dietetics, biology, Vitamins, Micronutrient, Phenomena and Processes::Physiological Phenomena::Nutritional Physiological Phenomena::Diet::Energy Intake [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cross-Sectional Studies [Medical Subject Headings], nutrition, Nutrición, Technology and Food and Beverages::Food and Beverages::Food::Dietary Supplements [Medical Subject Headings], Osteocalcin, Body Composition, Female, Bone Remodeling, lcsh:Nutrition. Foods and food supply, Chemicals and Drugs::Biological Factors::Biological Markers::Biomarkers, Pharmacological [Medical Subject Headings], Adult, medicine.medical_specialty, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::Calcium-Binding Proteins::Osteocalcin [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Physical Examination::Body Constitution::Body Weights and Measures::Body Size::Body Weight [Medical Subject Headings], Check Tags::Male [Medical Subject Headings], Anatomy::Respiratory System [Medical Subject Headings], Diseases::Nutritional and Metabolic Diseases::Nutrition Disorders::Malnutrition::Deficiency Diseases::Avitaminosis::Vitamin D Deficiency [Medical Subject Headings], Nutritional Status, lcsh:TX341-641, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Physical Examination::Body Constitution::Body Weights and Measures::Body Mass Index [Medical Subject Headings], Chemicals and Drugs::Lipids [Medical Subject Headings], malnutrition, vitamin D deficiency, Article, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Peptides::Intercellular Signaling Peptides and Proteins::Cytokines::Tumor Necrosis Factors::RANK Ligand [Medical Subject Headings], 03 medical and health sciences, Remodelación ósea, Internal medicine, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Physical Examination::Muscle Strength [Medical Subject Headings], medicine, Humans, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Cystic Fibrosis [Medical Subject Headings], Muscle Strength, Persons::Persons::Age Groups::Adult [Medical Subject Headings], Composición corporal, 030109 nutrition & dietetics, Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Musculoskeletal Physiological Phenomena::Bone Density [Medical Subject Headings], business.industry, Vitamin E, Peso corporal, Body weight, medicine.disease, Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Musculoskeletal Physiological Phenomena::Musculoskeletal Physiological Processes::Bone Remodeling [Medical Subject Headings], Osteocalcina, Fibrosis quística, Endocrinology, Fat-Soluble Vitamin, Biomarcadores, Check Tags::Female [Medical Subject Headings], oral nutritional supplements (ONS), Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Physiological Effects of Drugs::Growth Substances::Micronutrients [Medical Subject Headings], Dietary Supplements, biology.protein, business, Energy Intake, Biomarkers, Food Science

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fe82197f0155eb88d271cdf2a15c54c9Test
https://www.mdpi.com/2072-6643/13/2/669/pdf?version=1616662473Test

المؤلفون: Joaquín Sánchez-Prieto, Víctor Manuel Becerra-Muñoz, Luis Rodríguez-Padial, Fernando Sabatel-Pérez, J H Alonso-Briales, Pedro Mata

المساهمون: [Sabatel-Pérez,F, Sánchez-Prieto,J, Rodríguez-Padial,L] Department of Cardiology, Complejo Hospitalario Universitario de Toledo, Toledo, Spain. [Sabatel-Pérez,F, Becerra-Muñoz,VM, Alonso-Briales,JH] Unidad de Gestión Clínica Área del Corazón, Instituto de Investigación Biomédica de Málaga (IBIMA), Hospital Universitario Virgen de la Victoria de Málaga, Universidad de Málaga (UMA), Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Málaga, Spain. [Mata,P] Fundación Hipercolesterolemia Familiar, Madrid, Spain., This research received funding support for genetic testing from Sanofi-Aventis España SA and Amgen España SA, as well as support for statistical analysis and translation from the Chair of Advanced Therapies in Cardiovascular Pathologies, University of Málaga.

المصدر: Journal of Clinical Medicine
Volume 10
Issue 4
Journal of Clinical Medicine, Vol 10, Iss 749, p 749 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings], lcsh:Medicine, Chemicals and Drugs::Lipids [Medical Subject Headings], Cascade screening, Familial hypercholesterolemia, 030204 cardiovascular system & hematology, Rational use, atherosclerosis prevention, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Confidence Intervals [Medical Subject Headings], Article, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], 03 medical and health sciences, Diagnóstico precoz, 0302 clinical medicine, Internal medicine, medicine, 030212 general & internal medicine, Prevención primaria, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Prevalence [Medical Subject Headings], early detection, Index case, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Lipid Metabolism, Inborn Errors::Hyperlipoproteinemia Type II [Medical Subject Headings], Lipid clinic, Aterosclerosis, Lipoprotein cholesterol, Chemicals and Drugs::Lipids::Lipoproteins::Lipoproteins, LDL [Medical Subject Headings], familial hypercholesterolemia, business.industry, lcsh:R, Hiperlipoproteinemia tipo II, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing [Medical Subject Headings], General Medicine, genetic screening, medicine.disease, Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Lipid Metabolism Disorders::Dyslipidemias::Hyperlipidemias::Hypercholesterolemia [Medical Subject Headings], Chemicals and Drugs::Lipids::Sterols::Cholesterol [Medical Subject Headings], Confidence interval, business, Genetic diagnosis, Pruebas genéticas

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94a12181833b421bacdefea20da7e437Test
https://pubmed.ncbi.nlm.nih.gov/33668494Test

المؤلفون: Raul del Castillo, Manuela Moreno, Adriana Iriarte, Antoni Riera-Mestre, Daniel López-Wolf

المساهمون: [Riera-Mestre,A, Iriarte,A] Hereditary Hemorrhagic Telangiectasia Unit, Internal Medicine Department, Hospital Universitari de Bellvitge – IDIBELL, L’Hospitalet de Llobregat, Barcelona, Spain. [Riera-Mestre,A] Faculty of Medicine and Health Sciences, Universitat de Barcelona, Barcelona, Spain. [Riera-Mestre,A, Iriarte,A, Moreno,M, Del Castillo,R, López-Wolf,D] RiHHTa (Computerized Registry of Hereditary Hemorrhagic Telangiectasia) Investigators. Rare Diseases Working Group of the Spanish Society of Internal Medicine, Madrid, Spain. [Moreno,M] Internal Medicine Department, Hospital Clínico Universitario San Cecilio, Granada, Spain. [Del Castillo,R] Otorhinolaryngology Department, Hospital Universitario Ramón y Cajal, Madrid, Spain. [López-Wolf,D] Internal Medicine Department, Hospital Universitario Fundación Alcorcón, Madrid, Spain.

المصدر: Angiogenesis

مصطلحات موضوعية: 0301 basic medicine, Cancer Research, Letter, Angiogenesis, Physiology, Activin Receptors, Type II, Neovascularización Patológica, medicine.medical_treatment, Clinical Biochemistry, Telangiectasia Hemorrágica Hereditaria, Pathologic Angiogenesis, Disease, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Patient Admission, 0302 clinical medicine, Surveys and Questionnaires, Prevalence, Prospective Studies, Registries, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Prevalence [Medical Subject Headings], Telangiectasia, Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Metaplasia::Neovascularization, Pathologic [Medical Subject Headings], Persons::Persons::Age Groups::Adult::Aged [Medical Subject Headings], Neovascularization, Pathologic, Rare diseases, Hereditary hemorrhagic telangiectasia, 030220 oncology & carcinogenesis, Female, Telangiectasia, Hereditary Hemorrhagic, medicine.symptom, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Enfermedades Raras, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies::Longitudinal Studies::Prospective Studies [Medical Subject Headings], Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [Medical Subject Headings], 03 medical and health sciences, Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Serine-Threonine Kinases::Activin Receptors::Activin Receptors, Type II [Medical Subject Headings], Internal medicine, otorhinolaryngologic diseases, medicine, Humans, Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2), Aged, Geographical Locations::Geographic Locations::Europe::Spain [Medical Subject Headings], Mechanical ventilation, business.industry, COVID-19, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Cardiovascular Abnormalities::Vascular Malformations::Telangiectasia, Hereditary Hemorrhagic [Medical Subject Headings], medicine.disease, Diseases::Virus Diseases::RNA Virus Infections::Nidovirales Infections::Coronaviridae Infections::Coronavirus Infections [Medical Subject Headings], Pneumonia, Health Care::Health Care Facilities, Manpower, and Services::Health Services::Patient Care::Hospitalization::Patient Admission [Medical Subject Headings], 030104 developmental biology, Check Tags::Female [Medical Subject Headings], Spain, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries [Medical Subject Headings], business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c67df572142ec15fd533ee583c659e5Test

المؤلفون: Itziar Benito, Jesús David Urbano-Gámez, Juan José Casañas, María Luz Montesinos

المساهمون: Universidad de Sevilla. Departamento de Ingeniería Eléctrica, European Commission (EC). Fondo Europeo de Desarrollo Regional (FEDER), Fondation Jérôme Lejeune (Francia), [Urbano-Gámez,JD, Casañas,JJ, Benito,I, Montesinos,ML] Departamento de Fisiología Médica Y Biofísica, Universidad de Sevilla, Sevilla, Spain. [Urbano-Gámez,JD, Montesinos,ML] Instituto de Biomedicina de Sevilla, IBIS/Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. [Benito,I] Servicio de Animalario, Hospital Universitario Virgen Macarena (HUVM), Sevilla, Spain, This work was funded by the Junta de Andalucía (Spain, Grant P12-CTS-1818), the Ministerio de Economía, Industria y Competitividad (Spain, Grant: SAF2015-65032-R), the Fondo Europeo de Desarrollo Regional (FEDER) and the Fondation Jérôme Lejeune (France)., Junta de Andalucía, Ministerio de Economía, Industria y Competitividad (España), European Commission, Jérôme Lejeune Foundation

المصدر: Molecular Brain
Molecular Brain, Vol 14, Iss 1, Pp 1-16 (2021)
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: 0301 basic medicine, Proteomics, Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings], Dendritic spine, Trisomy 21, Down syndrome, Diseases::Nervous System Diseases::Neurologic Manifestations::Neurobehavioral Manifestations::Intellectual Disability [Medical Subject Headings], Intellectual disability, Anatomy::Nervous System::Synapses [Medical Subject Headings], Hippocampus, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Mitochondrial Proteins [Medical Subject Headings], Hippocampal formation, Receptors, Metabotropic Glutamate, Dendritic spines, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Models, Theoretical [Medical Subject Headings], Fragile X Mental Retardation Protein, 0302 clinical medicine, Organisms::Eukaryota::Animals [Medical Subject Headings], Sinapsis eléctricas, Medicine, Organisms::Eukaryota::Animals::Animal Population Groups::Animals, Genetically Modified::Mice, Transgenic [Medical Subject Headings], Long-term depression, Synaptoneurosomes, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Chromosome Disorders::Down Syndrome [Medical Subject Headings], Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Nervous System Physiological Phenomena::Nervous System Physiological Processes::Neuronal Plasticity [Medical Subject Headings], mGluR-LTD, Anatomy::Nervous System::Central Nervous System::Brain::Limbic System::Hippocampus::Pyramidal Cells [Medical Subject Headings], Receptores de glutamato metabotrópico, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Receptors, Cell Surface::Receptors, G-Protein-Coupled::Receptors, Metabotropic Glutamate [Medical Subject Headings], Neuronal Plasticity, Pyramidal Cells, Glutamate receptor, Discapacidad intelectual, Long term depression, mTOR, mGluR‑LTD, Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Nervous System Physiological Phenomena::Nervous System Physiological Processes::Neuronal Plasticity::Long-Term Synaptic Depression [Medical Subject Headings], Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biochemistry::Proteomics [Medical Subject Headings], Dendritic Spines, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Carrier Proteins::RNA-Binding Proteins::Fragile X Mental Retardation Protein [Medical Subject Headings], Mice, Transgenic, Biology, Inhibidores mTOR, Mitochondrial Proteins, 03 medical and health sciences, Cellular and Molecular Neuroscience, Hipocampo, Organisms::Eukaryota::Fungi::Basidiomycota::Agaricales [Medical Subject Headings], Animals, Depresión sináptica a largo plazo, Anatomy::Nervous System::Central Nervous System::Brain::Limbic System::Hippocampus [Medical Subject Headings], RC346-429, Molecular Biology, PI3K/AKT/mTOR pathway, Sirolimus, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Rodentia::Muridae::Murinae::Mice [Medical Subject Headings], business.industry, Neuronal synapse, Research, Long-Term Synaptic Depression, Psychiatry and Psychology::Behavior and Behavior Mechanisms::Neurobehavioral Manifestations::Memory Disorders [Medical Subject Headings], Diseases::Animal Diseases::Disease Models, Animal [Medical Subject Headings], Chemicals and Drugs::Organic Chemicals::Lactones::Macrolides::Sirolimus [Medical Subject Headings], Espinas dendríticas, Disease Models, Animal, Proteómica, 030104 developmental biology, Metabotropic receptor, Metabotropic glutamate receptor, Síndrome de Down, Synaptic plasticity, Synapses, Neurology. Diseases of the nervous system, Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Phosphotransferases::Phosphotransferases (Alcohol Group Acceptor)::Protein Kinases::Protein-Serine-Threonine Kinases::TOR Serine-Threonine Kinases [Medical Subject Headings], Psychiatry and Psychology::Behavior and Behavior Mechanisms::Behavior::Behavioral Symptoms::Depression [Medical Subject Headings], business, Anatomy::Nervous System::Neurons::Dendrites::Dendritic Spines [Medical Subject Headings], Neuroscience, 030217 neurology & neurosurgery, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Proteome [Medical Subject Headings]

وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6293560c3ddd2e37bd6afcb8f7b6197aTest

المؤلفون: Georg F. Hoffmann, Toni S. Pearson, Birgit Assmann, Yilmaz Yildiz, Beat Thöny, Roser Pons, Elisenda Cortès-Saladelafont, Helly Goez, Francesco Porta, Marcel M. Verbeek, H. Serap Sivri, Sabine Scholl-Bürgi, Gabriella Horvath, Simon Heales, Tessa Wassenberg, Manju A. Kurian, Kathrin Jeltsch, Eduardo López-Laso, Thomas Opladen, Angeles Garcia-Cazorla, Oya Kuseyri Hübschmann, Jennifer Friedman, Jan Kulhánek, Rafael Artuch, Vincenzo Leuzzi, Mario Mastrangelo, Luc Régal, Simon Pope, Tomas Honzik, Alberto Burlina

المساهمون: International Working Group on Neurotransmitter related Disorders (iNTD), [Opladen,T, Assman,B, Hoffmann,GF, Jeltsch,K, Kuseyri Hübschmann,O] Division of Child Neurology and Metabolic Disorders, University Children’s Hospital, Heidelberg, Germany. [López-Laso,E] Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain. [Cortès-Saladelafont,E, García-Cazorla,A] Inborn errors of metabolism Unit, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain. [Cortès-Saladelafont,E] Unit of Pediatric Neurology and Metabolic Disorders, Department of Pediatrics, Hospital Germans Trias i Pujol, and Faculty of Medicine, Universitat Autònoma de Barcelona, Badalona, Spain. [Pearson,TS] Department of Neurology, Washington University School of Medicine, St. Louis, USA. [Sivri,HS, Yildiz,Y] Department of Pediatrics, Section of Metabolism, Hacettepe University, Faculty of Medicine, Ankara, Turkey. [Kurian,MA] Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health, London, UK. [Kurian,MA] Department of Neurology, Great Ormond Street Hospital, London, UK. [Leuzzi,V, Mastrangelo,M] Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy. [Heales,S, Pope,S] Neurometabolic Unit, National Hospital, Queen Square, London, UK. [Porta,F] Department of Pediatrics, AOU Città della Salute e della Scienza, Torino, Italy. [Honzík,T, Kulhánek,J] Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. [Pons,R] First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece. [Regal,L, Wassenberg,T] Department of Pediatric, Pediatric Neurology and Metabolism Unit, UZ Brussel, Brussels, Belgium. [Goez,H] Department of Pediatrics, University of Alberta Glenrose Rehabilitation Hospital, Edmonton, Canada. [Artuch,R] Clinical biochemistry department, Institut de Recerca Sant Joan de Déu, CIBERER and MetabERN Hospital Sant Joan de Déu, Barcelona, Spain. [Horvath,G] Department of Pediatrics, Division of Biochemical Genetics, BC Children’s Hospital, University of British Columbia, Vancouver, BC, Canada. [Thöny,B] Division of Metabolism, University Children’s Hospital Zurich, Zürich, Switzerland. [Scholl-Bürgi,S] Clinic for Pediatrics I, Medical University of Innsbruc, Innsbruck, Austria. [Burlina,A] U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d’Abano, Padova, Italy. [Verbeek,MM] Departments of Neurology and Laboratory Medicine, Alzheimer Centre, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands. [Friedman,J] UCSD Departments of Neuroscience and Pediatrics, Rady Children’s Hospital Division of Neurology, Rady Children’s Institute for Genomic Medicine, San Diego, USA., TO and KJ were supported in parts by the Dietmar Hopp Foundation, St. Leon-Rot, Germany. MAK is funded by an NIHR Professorship and the Sir Jules Thorn Award for Biomedical Research., Pediatrics

المصدر: Orphanet Journal of Rare Diseases, 15, 1
Orphanet Journal of Rare Diseases
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-30 (2020)
ORPHANET JOURNAL OF RARE DISEASES
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Orphanet Journal of Rare Diseases, 15
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

مصطلحات موضوعية: Tetrahydrobiopterin deficiency, Hyperphenylalaninemia, Sepiapterin reductase deficiency, pterin-4-alpha-carbinolamine dehydratase deficiency, lcsh:Medicine, Review, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], chemistry.chemical_compound, 6-Pyruvoyltetrahydropterin synthase deficiency, Phenylketonurias, Publication Type::Publication Formats::Guideline [Medical Subject Headings], Pharmacology (medical), Dihydropteridine reductase deficiency, Neurotransmitter, Genetics (clinical), Guía, BH4, General Medicine, Tetrahydrobiopterin, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Sepiapterin reductase deficiency, Dystonia, Chemicals and Drugs::Heterocyclic Compounds::Heterocyclic Compounds, 2-Ring::Pteridines::Pterins::Biopterin [Medical Subject Headings], Consenso, 6-pyruvoyltetrahydropterin synthase deficiency, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors [Medical Subject Headings], iNTD, SIGN, medicine.drug, BH, 4, Consensus guidelines, Guanosine triphosphate cyclohydrolase deficiency, medicine.medical_specialty, Fenilcetonurias, Dopamine, medicine, Humans, pterin-4-alpha-carbinolamine dehydratase deficiency, Intensive care medicine, Neurotransmisores, business.industry, Psychiatry and Psychology::Behavior and Behavior Mechanisms::Psychology, Social::Group Processes::Consensus [Medical Subject Headings], lcsh:R, Chemicals and Drugs::Chemical Actions and Uses::Pharmacologic Actions::Molecular Mechanisms of Pharmacological Action::Neurotransmitter Agents [Medical Subject Headings], Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Metabolism, Inborn Errors::Brain Diseases, Metabolic, Inborn::Phenylketonurias [Medical Subject Headings], medicine.disease, Biopterin, Monoamine neurotransmitter, chemistry, 6- pyruvoyltetrahydropterin synthase deficiency, business, Diseases::Pathological Conditions, Signs and Symptoms::Signs and Symptoms::Neurologic Manifestations::Dyskinesias::Dystonia [Medical Subject Headings], Metabolism, Inborn Errors

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المؤلفون: Kristina I. Rother, Wanxia L. Tsai, Qing Zhou, Elaine F. Remmers, Rhina D. Castillo, Yan Huang, Anja Brehm, Raphaela Goldbach-Mansky, Franziska Sotzny, Yin Liu, Robert Wesley, Bernadette Marrero, Peter W. Hildebrand, Helen J. Lachmann, Deborah L. Stone, André Mégarbané, Ebun Omoyinmi, Adriana Almeida de Jesus, Massimo Gadina, Paul A. Brogan, Antonio Torrelo, Adam L Reinhardt, Angel Vera Casano, Dawn Chapelle, G Montealegre, Phil McCoy, Jae Jin Chae, Lela Kardava, Martin Pelletier, Susan Moir, Suvimol Hill, Elke Krüger, Diane E. Brown, Ling Gao, Abraham Zlotogorski, Angelique Biancotto, Jilian Brady, Hanna Kim, Ivona Aksentijevich, Afzal Sheikh, Daniel L. Kastner, Chyi-Chia Richard Lee, Yongqing Chen

المساهمون: [Brehm,A, Sotzny,F, Krüger,E] Charité-Universitätsmedizin Berlin, Institute of Biochemistry, Berlin, Germany. [Liu,Y, Sheikh,A, Marrero,B, Montealegre,G, Almeida de Jesus,A, Kim,H, Chapelle,D, Huang,Y, Chen,Y, Goldbach-Mansky,R] Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), Bethesda, Maryland, USA. [Sheikh,A, Zhou,Q, Remmers,EF, Chae,JJ, Brady,J, Stone,D, Kastner,DL, Aksentijevich,I] Inflammatory Disease Section, National Human Genome Research Institute, NIH, Bethesda, Maryland, USA. [Omoyinmi,E, Brogan,P] University College London Institute of Child Health and Great Ormond Street Hospital, NHS Foundation Trust, London, United Kingdom. [Biancotto,A, McCoy,P] Center of Human Immunology, National Heart, Lung, and Blood Institute, NIH, Bethesda, Maryland, USA. [Reinhardt,A] Children’s Hospital and Medical Center and University of Nebraska Medical Center, Omaha, Nebraska, USA. [Pelletier,M] Autoimmunity Branch. [Tsai,WL, Gadina,M] Office of Science and Technology, NIAMS. [Kardava,L, Moir,S] Laboratory of Immunoregulation, National Institute of Allergy and Infectious Diseases. [Hill,S] Clinical Center, NIH, Bethesda, Maryland, USA. [Lachmann,HJ] National Amyloidosis Centre, University College Medical School, London, United Kingdom. [Megarbane,A] Medical Genetics Unit, Saint Joseph University, Beirut, Lebanon. Institut Jerome Lejeune, Paris, France. [Castillo,RD, Brown,D] Children’s Hospital Los Angeles and University of Southern California, Los Angeles, California, USA. [Vera Castillo,A] Hospital Carlos Haya, Malaga, Andalusia, Spain. [Gao,L] College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA. [Lee,CR] Laboratory of Pathology, National Cancer Institute, NIH, Bethesda, Maryland, USA. [Torrelo,A] Pediatric Dermatology, Hospital Niño Jesús, Madrid, Spain. [Zlotogorski,A] Hadassah-Hebrew University Medical Center, Jerusalem, Israel. [Wesley,R] Reproductive Biology and Medicine Branch, Eunice Kennedy Shriver National Institute of Child Health and Human Development. [Rother,KR] Section on Pediatric Diabetes and Metabolism, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, Maryland, USA. [Hildebrand,PW] Charité-Universitätsmedizin Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany., This research was supported by the Intramural Research Program of NIAMS at the NIH, by the Berlin Institute of Health, and by the Deutsche Forschungsgemeinschaft (SFB TR 43 to E. Krüger, SFB740 to E. Krüger and P.W. Hildebrand).

المصدر: Journal of Clinical Investigation. 125:4196-4211

مصطلحات موضوعية: Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings], Lipodystrophy, Transcription, Genetic, PSMA3, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Células cultivadas, Subunidades de proteínas, 0302 clinical medicine, Clinical investigation, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Models, Theoretical::Models, Molecular [Medical Subject Headings], Medicine, Chemicals and Drugs::Biological Factors::Intercellular Signaling Peptides and Proteins::Interferons::Interferon Type I [Medical Subject Headings], Interferón de tipo I, Chaperonas moleculares, Cells, Cultured, Alineación de secuencias, General Medicine, Pedigree, Enfermedades autoinflamatorias hereditarias, Deleción de secuencias, Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease::Syndrome [Medical Subject Headings], Interferon Type I, RNA Interference, Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings], Erratum, Fenotipo, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Molecular Chaperones [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings], Genotype, Molecular Sequence Data, Síndrome, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Protein Subunits [Medical Subject Headings], 03 medical and health sciences, Mutación de sentido erróneo, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Hereditary Autoinflammatory Diseases [Medical Subject Headings], Humans, Secuencia de aminoácidos, Amino Acid Sequence, Loss function, Hereditary Autoinflammatory Diseases, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation::Sequence Deletion [Medical Subject Headings], Fibroblasts, Conformación de proteínas, Transcripción genética, Protein Subunits, Regulación de la expresión génica, 030104 developmental biology, Information Science::Information Science::Information Services::Documentation::Molecular Sequence Data [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation::Epigenesis, Genetic::Gene Silencing::RNA Interference [Medical Subject Headings], Proteasome, Complejo de endopeptidasas de los proteasomas, Anatomy::Cells::Cells, Cultured [Medical Subject Headings], Immunology, Mutation, Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Molecular Structure::Amino Acid Sequence [Medical Subject Headings], Genotipo, Molecular Chaperones, 0301 basic medicine, Models, Molecular, Protein Conformation, Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Pedigree [Medical Subject Headings], Modelos moleculares, Chemicals and Drugs::Macromolecular Substances::Multiprotein Complexes::Multienzyme Complexes::Proteasome Endopeptidase Complex [Medical Subject Headings], Missense mutation, Homología de secuencias de aminoácidos, RNA, Small Interfering, Anatomy::Cells::Connective Tissue Cells::Fibroblasts::Myofibroblasts [Medical Subject Headings], Sequence Deletion, Genetics, Chemicals and Drugs::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Untranslated::RNA, Small Untranslated::RNA, Small Interfering [Medical Subject Headings], Type I IFN production, Syndrome, Interferencia por ARN, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation::Mutation, Missense [Medical Subject Headings], Phenotype, Research Article, Datos de Secuencia Molecular, Proteasome Endopeptidase Complex, Protein subunit, Mutation, Missense, Biology, Linaje, Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression::Transcription, Genetic [Medical Subject Headings], Mutación, Sequence Homology, Amino Acid, business.industry, PSMB8, Phenomena and Processes::Chemical Phenomena::Biochemical Phenomena::Molecular Structure::Molecular Conformation::Protein Conformation [Medical Subject Headings], PSMB9, PSMB4, Molecular biology, Fibroblastos, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Alignment [Medical Subject Headings], Gene Expression Regulation, Proteasome assembly, Proteasome maturation protein, business, Sequence Alignment, Phenomena and Processes::Genetic Phenomena::Sequence Homology::Sequence Homology, Amino Acid [Medical Subject Headings], 030215 immunology

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84dd172581930722135aed4d91ce961fTest
https://doi.org/10.1172/jci81260Test

المؤلفون: Marc Miravitlles, Cristina Esquinas, I. Diego, S Pérez-Holanda, Francisco Casas-Maldonado, Ignacio Blanco, Patricia Bueno

المساهمون: Institut Català de la Salut, [Blanco I] Alpha1-Antitrypsin Deficiency Spanish Registry (REDAAT), Fundación Respira, Spanish Society of Pneumology and Thoracic Surgery (SEPAR), Barcelona. [Bueno P] Internal Medicine Department, County Hospital of Jarrio. [Diego I] Materials and Energy Department, School of Mining Engineering, Oviedo University. [Pérez-Holanda S] Surgical Department, University Central Hospital of Asturias (HUCA), Oviedo, Principality of Asturias. [Casas-Maldonado F] Pneumology Department, Complejo Hospitalario Universitario de Granada, Granada. [Esquinas C] Servei de Pneumologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Miravitlles M] Servei de Pneumologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, [Blanco,I] Alpha1-Antitrypsin Deficiency Spanish Registry (REDAAT), Fundación Respira, Spanish Society of Pneumology and Thoracic Surgery (SEPAR), Barcelona. [Bueno,P] Internal Medicine Department, County Hospital of Jarrio. [Diego,L] Materials and Energy Department, School of Mining Engineering, Oviedo University. [Pérez-Holanda,S] Surgical Department, University Central Hospital of Asturias (HUCA), Oviedo, Principality of Asturias. [Casas-Maldonado,F] Pneumology Department, Complejo Hospitalario Universitario de Granada, Granada. [Esquinas,C, Miravitlles,M] Pneumology Department, Hospital Universitari Vall d'Hebron. [Miravitlles,M] CIBER de Enfermedades Respiratorias (CIBERES), Barcelona, Spain.

المصدر: International Journal of Chronic Obstructive Pulmonary Disease
Scientia
Dipòsit Digital de la UB
Universidad de Barcelona

مصطلحات موضوعية: Nueva Zelanda, Global Health, Geographical Locations::Geographic Locations::Islands::Pacific Islands::New Zealand [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Confidence Intervals [Medical Subject Headings], Alfa 1-antitripsina, Epidemiologia genètica, 0302 clinical medicine, epidemiología y bioestadística::epidemiología::estudios epidemiológicos::epidemiología molecular [SALUD PÚBLICA], Gene Frequency, Health Care::Environment and Public Health::Public Health [Medical Subject Headings], Epidemiology, Statistics, Genotype, Malalties hereditàries, Prevalence, Genetic epidemiology, geographic information system, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Prevalence [Medical Subject Headings], Original Research, alpha-1 antitrypsin deficiency, education.field_of_study, Molecular Epidemiology, Inverse distance weighted interpolation, Enzyme inhibitors, Deficiencia de alfa 1-antitripsina, General Medicine, Geographic information systems, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Research Design::Reproducibility of Results [Medical Subject Headings], Phenotype, Alpha-1 antitrypsin deficiency, 030220 oncology & carcinogenesis, SERPINA1, Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings], Alelos, Geographic information system, Genetic diseases, medicine.medical_specialty, genetic epidemiology, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Research Design::Sample Size [Medical Subject Headings], Geographical Locations::Geographic Locations::Africa [Medical Subject Headings], Epidemiologia molecular, Population, Alpha (ethology), International Journal of Chronic Obstructive Pulmonary Disease, Salud Pública, protease inhibitor, 03 medical and health sciences, Región del Caribe, enfermedades respiratorias::enfermedades pulmonares::deficiencia de alfa 1-antitripsina [ENFERMEDADES], alpha 1-Antitrypsin Deficiency, medicine, Humans, Europa (Continente), Genetic Predisposition to Disease, Respiratory Tract Diseases::Lung Diseases::alpha 1-Antitrypsin Deficiency [DISEASES], Geographical Locations::Geographic Locations::Asia [Medical Subject Headings], Allele, education, Allele frequency, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings], Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::alpha 1-Antitrypsin Deficiency [Medical Subject Headings], Epidemiology and Biostatistics::Epidemiology::Epidemiologic Studies::Molecular Epidemiology [PUBLIC HEALTH], Sistemes d'informació geogràfica, África, Intervalos de confianza, Models, Genetic, Reproducibilidad de resultados, business.industry, Geographical Locations::Geographic Locations::Australia [Medical Subject Headings], Geographical Locations::Geographic Locations::Americas::Caribbean Region [Medical Subject Headings], inverse distance weighted interpolation, Tamaño de la Muestra, Confidence interval, Genetics, Population, Inhibidors enzimàtics, Protease inhibitor, 030228 respiratory system, Sample size determination, alpha 1-Antitrypsin, Mutation, Geographical Locations::Geographic Locations::Europe [Medical Subject Headings], Prevalencia, business, Genotipo

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https://pubmed.ncbi.nlm.nih.gov/28243076Test

المؤلفون: V. Hugo Borja-Aburto, Clemente Aguilar-Garduño, Julia Blanco-Muñoz, Ana M. García, Marina Lacasaña

المساهمون: [Aguilar-Garduño, C, Lacasaña, M]. Andalusian School of Public Health. [Aguilar-Garduño, C] Andalusian Observatory of Environmental Health. [Lacasana, M] CIBER Epidemiology & Public Health CIBERESP. [Blanco-Muñoz, J] National Institute of Public Health, Mexico. [Hugo Borja-Aburto, V] Mexican Institute of Social Security. [Garcia, A. M] University of Valencia, Department of Preventive Medicine & Public Health

المصدر: Occupational and Environmental Medicine. 67:32-37

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Exposición profesional, Chemicals and Drugs::Chemical Actions and Uses::Specialty Uses of Chemicals::Solvents [Medical Subject Headings], Logistic regression, Occupational safety and health, Occupational medicine, Risk Factors, Occupational Exposure, Environmental health, Anencephaly, Health Care::Environment and Public Health::Public Health::Environmental Pollution::Environmental Exposure::Maternal Exposure [Medical Subject Headings], Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Abnormalities, Severe Teratoid::Anencephaly [Medical Subject Headings], medicine, Humans, Mexico, Pregnancy, business.industry, Public Health, Environmental and Occupational Health, Health Care::Environment and Public Health::Public Health::Environmental Pollution::Environmental Exposure::Occupational Exposure [Medical Subject Headings], Odds ratio, Occupational exposure, Anencefalia, medicine.disease, Solventes, Surgery, B vitamins, Geographicals::Geographic Locations::Americas::North America::Mexico [Medical Subject Headings], Maternal Exposure, Case-Control Studies, Paternal Exposure, Solvents, Gestation, Female, business

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https://doi.org/10.1136/oem.2008.044743Test