المؤلفون: Joaquín Dopazo, Leticia Villalba-Benito, Berta Luzón-Toro, Raquel M. Fernández, Salud Borrego, Daniel Lopez-Lopez, María José Moya-Jiménez, Carlos S. Casimiro-Soriguer, Guillermo Antiñolo, Ana Torroglosa

المساهمون: Instituto de Salud Carlos III, European Commission, Junta de Andalucía, Universidad de Sevilla. Departamento de Cirugía, [Villalba-Benito,L, Torroglosa,A, Luzón-Toro,B, Fernández,RM, Antiñolo,G, Dopazo,J, Borrego,S] Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain. [Villalba-Benito,L, Borrego,S] Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain. [López-López,D, Casimiro-Soriguer,CS, Dopazo,J] Clinical Bioinformatics Area, Fundación Progreso y Salud (FPS), CDCA, University Hospital Virgen del Rocío, Sevilla, Spain. [López-López,D, Dopazo,J] Computational Systems Medicine, IBIS, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain. [Moya-Jiménez,MJ] Department of Pediatric Surgery, University Hospital Virgen del Rocío, Seville, Spain., This work was supported by Instituto de Salud Carlos III through the Projects [PI16/0142, PI19/01550] (co-funded by the European Regional Development Fund/European Social Fund, 'A way to make Europe'/'Investing in your future'), and by the Regional Ministry of Health and Family of the Regional Government of Andalusia [PEER-0470–2019]. L.V.-B. was supported by a fellowship associated with the CTS-7447 Project, which has been funded by the Regional Ministry of Innovation, Science and Enterprise of the Regional Government of Andalusia.

المصدر: Clinical Epigenetics
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Epigenomics, Male, Methyltransferase, Hirschsprung disease, Bisulfite sequencing, Whole genome bisulfite sequencing, Enteric Nervous System, Epigenesis, Genetic, Secuenciación completa del genoma, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Processes::DNA Methylation [Medical Subject Headings], Anatomy::Nervous System::Peripheral Nervous System::Autonomic Nervous System::Enteric Nervous System [Medical Subject Headings], Enfermedad de hirschsprung, Genetics (clinical), Genetics, Persons::Persons::Age Groups::Infant [Medical Subject Headings], Genome, DNA methylation, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Structures::Base Sequence::GC Rich Sequence::CpG Islands [Medical Subject Headings], Enteric nervous system development, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Digestive System Abnormalities::Hirschsprung Disease [Medical Subject Headings], Methylation, Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings], Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genomics::Epigenomics [Medical Subject Headings], CpG site, Neural Crest, Child, Preschool, Cresta neural, Female, Metilación de ADN, Signal Transduction, Islas de CpG, Check Tags::Male [Medical Subject Headings], Context (language use), Biology, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome [Medical Subject Headings], Epigenetic regulation, Whole genome bisulfte sequencing, Psychiatry and Psychology::Behavior and Behavior Mechanisms::Motivation::Goals [Medical Subject Headings], Information Science::Information Science::Information Storage and Retrieval::Databases as Topic::Databases, Factual::Databases, Genetic [Medical Subject Headings], Humans, Genetic Predisposition to Disease, Epigenetics, Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Cell Growth Processes::Cell Proliferation [Medical Subject Headings], Molecular Biology, Genoma, Whole Genome Sequencing, Anatomy::Embryonic Structures::Neural Crest [Medical Subject Headings], Research, Sistema nervioso entérico, Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression Regulation::Epigenesis, Genetic [Medical Subject Headings], Phenomena and Processes::Cell Physiological Phenomena::Cell Physiological Processes::Signal Transduction [Medical Subject Headings], Infant, Differentially methylated regions, Check Tags::Female [Medical Subject Headings], Case-Control Studies, Epigenómica, CpG Islands, Persons::Persons::Age Groups::Child::Child, Preschool [Medical Subject Headings], Developmental Biology

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5943a3b8d560ced4eae11d8d636e9cfdTest
http://hdl.handle.net/10261/265803Test

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: 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: 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

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::91c0ca5887fbbd2495d74a3b72950e3cTest
https://doi.org/10.1136/oem.2008.044743Test

المؤلفون: Maria Luisa Justa, José F. Crespo, Adela Urisarri, Francisco Llamas, Rafael Bedoya, Julia Vara, Gema Ariceta, Juan Antonio Camacho, Enrique Lara, Luis Antonio Jiménez del Cerro, Blanca Valenciano, J. Bravo, Miguel A. Muñoz, Fernando Santos, Rafael Romero, Alberto Bueno, M. Calvo, Víctor García-Nieto, Antonio Daza, Federico Oppenheimer, Carmen Cantarell, Maria José Sanahuja

المساهمون: [Ariceta,G, Lara,E, Cantarell,C] Hospital Universitari Vall d’ Hebron, Barcelona, Spain. [Ariceta,G] Hospital Universitario Cruces, Bilbao, Spain. [Camacho,JA] Hospital Sant Joan de Déu, Barcelona, Spain. [Oppenheimer ,F] Hospital Universitari Clínic, Barcelona, Spain. [Vara,J] Hospital Universitario 12 de Octubre, Madrid, Spain. [Santos ,F] Hospital Universitario Central de Asturias . Universidad de Oviedo, Oviedo, Spain. [Muñoz ,MA] Hospital Universitario Virgen de la Salud, Toledo, Spain. [Gil Calvo,M, Romero,R] Complexo Hospitalario Universitario de Santiago de Compostela, Santiago de Compostela, Spain. [Valenciano,B] Hospital Universitario Materno-Infantil Las Palmas, Las Palmas de Gran Canaria, Spain. [García-Nieto,V] Hospital Universitario Ntra. Sra. de la Candelaria, Santa Cruz de Tenerife, Spain. [Sanahuja,MJ] Hospital Universitario La Fe, Valencia, Spain. [Crespo,J] Hospital Universitario Dr Peset, Valencia, Spain. [Justa,ML] Hospital Universitario Miguel Servet, Zaragoza, Spain. [Urisarri,A] Hospital Arquitecto Marcide, Ferrol, Spain. [Bedoya,R] Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Bueno,A] Hospital Universitario Materno-Infantil, Materno-Infantil Carlos Haya, Málaga, Spain. [Daza,A] Complejo Hospitalario de Torrecárdenas, Almería, Spain. [Bravo,J] Hospital Universitario Virgen de Las Nieves, Granada, Spain. [Llamas,F] Hospital General de Albacete, Albacete, Spain. [Jiménez Del Cerro,LA] Hospital General Universitario de Alicante, Alicante, Spain., This study has been supported by A.C. Nielsen Company S.L.and Orphan Europe S.L.U

المصدر: NEPHROLOGY DIALYSIS TRANSPLANTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Nephrology Dialysis Transplantation

مصطلحات موضوعية: Male, Nephrology, Health Knowledge, Attitudes, Practice, Pediatrics, Anatomy::Urogenital System::Urinary Tract::Kidney [Medical Subject Headings], Autocuidado, Cystinosis, España, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Renal Replacement Therapy::Kidney Transplantation [Medical Subject Headings], Disease, Cohort Studies, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], chemistry.chemical_compound, Named Groups::Persons::Parents::Mothers [Medical Subject Headings], Interquartile range, Chronic Kidney Disease, Trasplante de riñón, Named Groups::Persons::Occupational Groups::Health Personnel::Physicians [Medical Subject Headings], adherence, Young adult, Child, Psychiatry and Psychology::Behavior and Behavior Mechanisms::Behavior::Health Behavior::Patient Compliance [Medical Subject Headings], Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Nervous System Physiological Phenomena::Nervous System Physiological Processes::Sensation::Smell [Medical Subject Headings], Pronóstico, transition, Prognosis, Named Groups::Persons::Parents::Fathers [Medical Subject Headings], adherence, cysteamine, cystinosis, prognosis, transition, Child, Preschool, Named Groups::Persons::Age Groups::Adolescent [Medical Subject Headings], Transition, Absenteeism, Chemicals and Drugs::Organic Chemicals::Amines::Ethylamines::Mercaptoethylamines::Cysteamine [Medical Subject Headings], Female, Estudios de seguimiento, Cohort study, Adult, medicine.medical_specialty, Adolescent, Cysteamine, Check Tags::Male [Medical Subject Headings], Cistinosis, CLINICAL SCIENCE, Medication Adherence, Young Adult, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Lysosomal Storage Diseases::Cystinosis [Medical Subject Headings], Internal medicine, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cohort Studies::Longitudinal Studies::Follow-Up Studies [Medical Subject Headings], Named Groups::Persons::Age Groups::Adult [Medical Subject Headings], medicine, Humans, Cooperación del paciente, Named Groups::Persons::Parents [Medical Subject Headings], Cystine Depleting Agents, Named Groups::Persons::Age Groups::Child [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Therapeutics::Self Care [Medical Subject Headings], Psychiatry and Psychology::Psychological Phenomena and Processes::Psychology, Applied::Psychology, Industrial::Absenteeism [Medical Subject Headings], Transplantation, business.industry, Infant, Newborn, Infant, Psychiatry and Psychology::Behavior and Behavior Mechanisms::Motivation [Medical Subject Headings], medicine.disease, Self Care, chemistry, Spain, Adherence, Psychiatry and Psychology::Behavior and Behavior Mechanisms::Emotions [Medical Subject Headings], Absentismo, Cisteamina, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Prognosis [Medical Subject Headings], Olfato, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c392862db09ec5148d59d6094e5972dTest
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=8233Test

المؤلفون: María-Teresa Calvo, Elizabet Pintado, Yolanda de Diego-Otero, Jordi Rosell, G. Glover, Francisco Martínez, María-Antonia Ramos-Arroyo, Montserrat Milà, Carmen Ayuso, Isabel Fernandez-Carvajal, Miriam Guitart, Concepción Hernández-Chico, Maria-Isabel Tejada, Feliciano J. Ramos, Hiart Maortua

المساهمون: Ministerio de Sanidad, Servicios Sociales e Igualdad (España), Asociación Girmogen (España), [Tejada,MI, Maortua,H] Laboratorio de Genetica Molecular, Servicio de Genética, Hospital Universitario Cruces, BioCruces Health Research Institute, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Barakaldo, Bizkaia, Spain. [Glover,G] Unidad de Genetica Molecular, Centro de Bioquímica y Genetica Clínica, Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, Spain. [Martínez,F] Unidad de Genetica, Hospital Universitario La Fe, Valencia, Spain. [Guitart,M] Laboratorio de Genetica, UDIAT-Centre Diagnóstic, Corporaciò Sanitária Parc Taulí, Institut Universitari UAB, Sabadell, Barcelona, Spain. [Diego-Otero,Y de] Unidad de Gestion Clínica de Salud Mental, Hospital Regional Universitario de Malaga, Instituto de Investigacion Biomédica de Málaga (IBIMA), Málaga, Spain. [Fernández-Carvajal] Instituto de Biología y Genetica Molecular (IBGM), Universidad de Valladolid, CSIC, Valladolid, Spain. [Ramos,FJ] Consulta de Genetica Clínica, Servicio de Pediatría, Hospital Clínico Universitario Lozano Blesa, Facultad de Medicina, Universidad de Zaragoza, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Zaragoza, Spain. [Hernández-Chico,C] Servicio de Genetica, Hospital Ramón y Cajal, Madrid, Spain. [Pintado,E] Servicio de Biología Molecular, Hospital Virgen Macarena y Universidad de Sevilla, Sevilla, Spain. [Rosell,J] Servicio de Genetica, Hospital Universitari Son Espases, GCV-CIBER de Enfermedades Raras (CIBERER-ISCIII), Palma de Mallorca, Illes Balears, Spain. [Calvo,MT] Unidad de Genetica Médica, Hospital Universitario Miguel Servet, Zaragoza, Spain. [Ayuso,C] Servicio de Genetica, IIS-Hospital Universitario Fundacion Jiménez Díaz (IIS-FJD, UAM), CIBER de Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain. [Ramos-Arroyo,MA] Servicio de Genetica, Complejo Hospitalario de Navarra, Pamplona, Spain. [Milà,M] Servicio de Bioquímica y Genetica Molecular, Hospital Clinic, IDIBAPS, CIBER de Enfermedades Raras (CIBERER-ISCIII), Barcelona, Spain.

المصدر: BioMed Research International, Vol 2014 (2014)
Digital.CSIC. Repositorio Institucional del CSIC
instname
BioMed Research International

مصطلحات موضوعية: Male, alelos, Síndrome del cromosoma X frágil, Fragile x, sistema de registros, humanos, España, adolescente, lcsh:Medicine, ComputingMilieux_LEGALASPECTSOFCOMPUTING, frecuencia génica, Named Groups::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Gene Frequency, Intellectual disability, Registries, Child, Full mutation, mediana edad, síndrome del cromosoma X frágil, Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Genetics, Named Groups::Persons::Age Groups::Child::Child, Preschool [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Testing [Medical Subject Headings], General Medicine, adulto, Middle Aged, Fragile X syndrome, Child, Preschool, Named Groups::Persons::Age Groups::Adolescent [Medical Subject Headings], Female, Sistema de registros, Named Groups::Persons::Age Groups::Infant [Medical Subject Headings], Alelos, Pruebas genéticas, Research Article, Adult, Adolescent, Article Subject, Offspring, Genetic counseling, Check Tags::Male [Medical Subject Headings], Biology, Named Groups::Persons::Age Groups::Infant::Infant, Newborn [Medical Subject Headings], General Biochemistry, Genetics and Molecular Biology, Named Groups::Persons::Age Groups::Adult [Medical Subject Headings], medicine, Humans, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Chromosome Disorders::Sex Chromosome Disorders::Fragile X Syndrome [Medical Subject Headings], pruebas genéticas, Genetic Testing, Allele, Alleles, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings], Named Groups::Persons::Age Groups::Child [Medical Subject Headings], lactante, General Immunology and Microbiology, lcsh:R, Infant, Newborn, Infant, medicine.disease, Frecuencia génica, Check Tags::Female [Medical Subject Headings], Spain, Fragile X Syndrome, Data_GENERAL, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Registries [Medical Subject Headings], Klinefelter syndrome, Phenomena and Processes::Genetic Phenomena::Gene Frequency [Medical Subject Headings]

وصف الملف: text/xhtml; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97eca38d1b9b61dda9a5fad4a1b97db4Test
http://hdl.handle.net/10261/116865Test

المؤلفون: Martín-Hernández, Elena, Aldámiz-Echevarría, Luis, Castejón-Ponce, Esperanza, Pedrón-Giner, Consuelo, Couce, María Luz, Serrano-Nieto, Juliana, Pintos-Morell, Guillem, Bélanger-Quintana, Amaya, Martínez-Pardo, Mercedes, García-Silva, María Teresa, Quijada-Fraile, Pilar, Vitoria-Miñana, Isidro, Dalmau, Jaime, Lama-More, Rosa A, Bueno-Delgado, María Amor, del Toro-Riera, Mirella, García-Jiménez, Inmaculada, Sierra-Córcoles, Concepción, Ruiz-Pons, Mónica, Peña-Quintana, Luis J, Vives-Piñera, Inmaculada, Moráis, Ana, Balmaseda-Serrano, Elena, Meavilla, Silvia, Sanjurjo-Crespo, Pablo, Pérez-Cerdá, Celia, Universitat Autònoma de Barcelona

المساهمون: [Martín-Hernández,E, García-Silva,MT, Quijada Fraile,P] Pediatric Rares Diseases Unit, Metabolic and Mitochondrial Diseases, Pediatric Department, Hospital Universitario 12 de Octubre. Research Institute (i +12), Madrid, Spain. [Aldáiz-Echevarría,L: Sanjurjo-Crespo,P] H.U. de Cruces, Bilbao, Spain. [Castejón-Ponce,E, Meavilla,S] H. Sant Joan de Déu, Barcelona, Spain. [Pedrón-Giner,C] H.U. Infantil del Niño Jesús, Madrid, Spain. [Couce,ML] C.H.U. de Santiago, Santiago de Compostela, Spain. [Serrano-Nieto,J] H. Materno Infantil Carlos Haya, Málaga, Spain. [Pintos-Morell,G] H.U. Germans Trias i Pujol, Badalona, Spain. [Bélanger-Quintana,A, Martínez-Pardo,M] H.U. Ramón y Cajal, Madrid, Spain. [Vitoria-Miñana,I, Dalmau,J] H. Infantil La Fe, Valencia, Spain. [Lama-More, RA, Moráis,A] H.U. La Paz, Madrid, Spain. [Bueno-Delgado,MA] H.U. Virgen del Rocío, Sevilla, Spain. [del Toro-Riera-M] H. Vall d’Hebrón, Barcelona, Spain. [García-Jiménez,I] H.U. Miguel Servet, Zaragoza, Spain. [Sierra-Córcoles,C] C.H. de Jaén, Jaén, Spain. [Ruiz-Pons,M] H.U. Ntra. Sra. de la Candelaria, Santa Cruz de Tenerife, Spain. [Peña-Quintana,LJ] H.U. Materno Infantil de Las Palmas, Las Palmas de Gran Canaria, Spain. [Vives-Piñera,I]H.C.U. Virgen de la Arrixaca, Murcia, Spain. [Balmaseda-Serrano,E] C.H.U. de Albacete, Albacete, Spain. [Pérez-Cerdá,C] CEDEM. Facultad de Ciencias, Universidad Autónoma de Madrid, Madrid, Spain.

المصدر: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
ORPHANET JOURNAL OF RARE DISEASES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Orphanet Journal of Rare Diseases

مصطلحات موضوعية: Male, Pediatrics, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Metabolism, Inborn Errors::Amino Acid Metabolism, Inborn Errors [Medical Subject Headings], Estudios transversales, España, Argininosuccinate lyase, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], chemistry.chemical_compound, Argininosuccinic, Genetics(clinical), Pharmacology (medical), Child, Urea Cycle Disorders, Inborn, Genetics (clinical), Ornithine transcarbamylase deficiency, Trastornos innatos del ciclo de la urea, Carbamoylphosphate synthetase 1, Medicine(all), Persons::Persons::Age Groups::Infant [Medical Subject Headings], Ornithine transcarbamylase, Sodium phenylbutyrate, General Medicine, N-acetylglutamate synthase, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cross-Sectional Studies [Medical Subject Headings], Argininosuccinic aciduria, Child, Preschool, Urea cycle, Female, Persons::Persons::Age Groups::Adult::Young Adult [Medical Subject Headings], medicine.drug, UCDs, Adult, medicine.medical_specialty, Adolescent, Check Tags::Male [Medical Subject Headings], Urea cycle disorders, Persons::Persons::Age Groups::Adolescent [Medical Subject Headings], Young Adult, Internal medicine, medicine, Humans, Carglumic acid, Persons::Persons::Age Groups::Child [Medical Subject Headings], Persons::Persons::Age Groups::Adult [Medical Subject Headings], Survival rate, Geographical Locations::Geographic Locations::Europe::Spain [Medical Subject Headings], business.industry, Research, Citrullinemia, Carbamoylphosphate synthase 1, Infant, medicine.disease, Citrullinemia type 1, Arginase 1, Cross-Sectional Studies, Endocrinology, Check Tags::Female [Medical Subject Headings], chemistry, Spain, Argininosuccinate synthetase, business, Persons::Persons::Age Groups::Child::Child, Preschool [Medical Subject Headings]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdb8904e9ac60345649f34b683d7ddffTest
https://ddd.uab.cat/record/185127Test

المؤلفون: Salud Borrego, Manuel Jesus Acosta, Guillermo Antiñolo, Luis Castaño, Juan Carlos de Agustín, María Valle Enguix-Riego, Martina Marbá, Rocío Núñez-Torres, Raquel M. Fernández

المساهمون: [Nuñez-Torres R, Fernandez RM, Acosta MJ, Enguix-Riego MV, Antiñolo G, Borrego S] Unidad de Gestión Clínica de Genética,Reproducción y Medicina Fetal. Instituto de Biomedicina de Sevilla (IBIS), Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Sevilla, Spain.[Marbá M] Departamento de Genómica y Bioinformática. Centro de Investigación Príncipe Felipe (CIPF), Valencia, Spain. [de Agustin,JC] Unidad de Gestión Clínica de Cirugía Infantil, Hospital Universitario Virgen del Rocío, Sevilla, Spain. [Castaño L] Grupo de investigación en Endocrinología y Diabetes, Hospital de Cruces, Vizcaya, Spain., Fondo de Investigación Sanitaria, Spain (PI070080, PI1001290, and PI071315 for the E-Rare Project), Consejeria de Innovación Ciencia y Empresa de la Junta de Andalucia (CTS-2590), and Consejeria de Salud de la Junta de Andalucia (PI0249-2008)

المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 12, Iss 1, p 138 (2011)
Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: Male, endocrine system diseases, DNA Mutational Analysis, España, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Gene Frequency, Polymorphism (computer science), Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Case-Control Studies [Medical Subject Headings], Análisis Mutacional de ADN, Genetics(clinical), Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis [Medical Subject Headings], Genetics (clinical), Genetics, Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings], Sex Characteristics, Estudios de Casos y Controles, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Digestive System Abnormalities::Hirschsprung Disease [Medical Subject Headings], Exons, Enhancer Elements, Genetic, Proto-Oncogene Proteins c-ret, Female, Research Article, lcsh:Internal medicine, congenital, hereditary, and neonatal diseases and abnormalities, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings], lcsh:QH426-470, Context (language use), Biology, Enfermedad de Hirschsprung, Polymorphism, Single Nucleotide, Germline mutation, Humans, Hirschsprung Disease, Allele, lcsh:RC31-1245, Genotyping, Allele frequency, Alleles, Genetic Association Studies, Germ-Line Mutation, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide [Medical Subject Headings], Mutación, Genetic Complementation Test, Genetic Variation, Introns, Proteínas Proto-Oncogénicas c-ret, lcsh:Genetics, Spain, Case-Control Studies, Mutation, Polimorfismo de Nucleótido Simple, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Neoplasm Proteins::Oncogene Proteins::Proto-Oncogene Proteins c-ret [Medical Subject Headings]

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01521e683d1cbee6a3e3215910af02a9Test
https://hdl.handle.net/10668/292Test

المؤلفون: Juan Carlos de Agustín, Macarena Ruiz-Ferrer, Guillermo Antiñolo, Salud Borrego, Rocío Núñez-Torres, Ana Torroglosa

المساهمون: Universidad de Sevilla. Departamento de Cirugía, [Ruiz-Ferrer,M, Torroglosa,A, Nuñez-Torres,R, Antiñolo,G, Borrego,S] Unidad de Gestión Clínica de Genética, Reproducción y Medicina Fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío. CSIC. Universidad de Sevilla, Sevilla, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Sevilla, Spain. [de Agustín, JC] Unidad de Gestión Clínica de Cirugía Infantil, Hospital Universitario Virgen del Rocío, Sevilla, Spain, Fondo de Investigación Sanitaria, Spain (PI070080, PI1001290 and PI071315 for the E-Rare project), Consejería de Innovación Ciencia y Empresa de la Junta de Andalucía (CTS 2590) and Consejería de Salud de la Junta de Andalucía (PI0249-2008).

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
idUS: Depósito de Investigación de la Universidad de Sevilla
Universidad de Sevilla (US)
PLoS ONE
PLoS ONE, Vol 6, Iss 8, p e23475 (2011)
idUS. Depósito de Investigación de la Universidad de Sevilla

مصطلحات موضوعية: Male, PROKR2, PROKR1, Sistema Nervioso Entérico, lcsh:Medicine, Gene Expression, Developmental Signaling, Enteric Nervous System, Receptors, G-Protein-Coupled, Cohort Studies, Neural Stem Cells, Molecular Cell Biology, Anatomy::Nervous System::Peripheral Nervous System::Autonomic Nervous System::Enteric Nervous System [Medical Subject Headings], Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Digestive System Abnormalities [Medical Subject Headings], lcsh:Science, Cells, Cultured, Multidisciplinary, Microscopy, Confocal, Reverse Transcriptase Polymerase Chain Reaction, Signaling in Selected Disciplines, Immunohistochemistry, Hirschsprung’s disease, Neurology, Child, Preschool, Medicine, Female, Pediatric Gastroenterology, Enteric nervous system, Signal Transduction, Research Article, Glial Cell Line-Derived Neurotrophic Factor Receptors, Receptors, Peptide, Gastroenterology and Hepatology, Biology, Enfermedad de Hirschsprung, Autonomic Nervous System, Gastrointestinal Hormones, Molecular Genetics, Genetics, Humans, Mutation detection, Genetic Predisposition to Disease, Glial Cell Line-Derived Neurotrophic Factor, Hirschsprung Disease, lcsh:R, Neuropeptides, Proto-Oncogene Proteins c-ret, Infant, Newborn, Infant, Human Genetics, Molecular Development, Signaling, Mutational analysis, Immunology, Mutation, Genetics of Disease, lcsh:Q, Vascular Endothelial Growth Factor, Endocrine-Gland-Derived, Diseases::Digestive System Diseases::Gastrointestinal Diseases::Intestinal Diseases::Colonic Diseases::Megacolon::Hirschsprung Disease [Medical Subject Headings], Humanities, Developmental Biology

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc86d49c77aa62f5d3266dd633b1c1e0Test
http://hdl.handle.net/10261/43675Test

المؤلفون: Mónica Fernández-Cancio, J. Martínez-Mora, E. Vicens-Calvet, M. Carrera, M. Andrade, M. Gussinyé, Antonio Perez-Aytes, Emilio Suárez García, C. Piró, Teresa Vendrell, G. Lledó, M. Del Campo, Laura Audí, Pablo Lapunzina, L. Castaño, Diego Yeste, J. Sánchez del Pozo, José Luis Arroyo, Andrés Blanco Blanco, Maria Clemente, José I Labarta, A. Carrascosa, I. Hernández de la Calle, J. A. Bermúdez de la Vega, J. Forn, Joaquim Calaf, Pilar Andaluz, J. del Valle, E. Mayayo, Nuria Toran, E. Vilaró, Isabel Salinas, M. Beneyto, O. Angerri, Ángel Segura, María Caimari, Ricardo Gracia-Bouthelier, María Angeles Albisu, M. J. Martínez-Sopena, Elisabeth Gabau, V. Borrás, M. J. Martínez-Aedo, María Luisa Granada, Antonio M. Rodríguez

المساهمون: Grupo de Apoyo al Síndrome de Insensibilidad a los Andrógenos (GrApSIA), [Audi,L, Fernández-Cancio,M, Carrascosa,A, Andaluz,P, Vilaró,E, Vicens-Calvet,E, Gussinyé,M, Albusi,MA, Yeste,D, Clemente,M] Pediatric Endocrinology Research Unit, Research Institute, Hospital Vall d’Hebron, Autonomous University, CIBERER (Centre for Biomedical Research Network on Rare Diseases), Instituto de Salud Carlos III, Barcelona, Spain. [Torán,N, Pirón,C, Hernandez de la Calle,I, Campo,M del, Vendrell,T] Departments of Pathology, Pediatric Surgery, Gynecology, and Genetics, Hospital Vall d’Hebron, Barcelona, Spain. [Blanco,A, Martínez-Mora,J, Granada,ML, Salinas,I] Departments of Pediatric Surgery, Biochemistry, and Endocrinology, Hospital Germans Trias-Pujol, Badalona, Spain. [Forn,J, Calaf,J] Departments of Pediatrics and Gynecology, Hospital Santa Creu i Sant Pau, Barcelona, Spain. [Angerri,O] Department of Urology, Fundació Puigvert, Barcelona, Spain. [Martínez-Sopena,MJ] Department of Pediatrics, Hospital Clínico, Valladolid, Spain. [Valle,J del, García,E] Department of Pediatric Endocrinology, Hospital Virgen del Rocío, Sevilla, Spain. [Gracia-Bouthelier,R, Lapunzina,P] Departments of Pediatric Endocrinology and Genetics, Hospital La Paz, Madrid, Spain. [Mayayo,E, Labarta,JI] Department of Pediatric Endocrinology, Hospital Infantil Miguel Servet, Zaragoza, Spain. [Lledó,G, Sánchez del Pozo,J] Department of Pediatric Endocrinology, Hospital 12 de Octubre, Madrid, Spain. [Arroyo,J] Department of Pediatrics, Complejo Hospitalario de Cáceres, Cáceres, Spain. [Pérez-Aytes,A] Department of Pediatrics, Hospital Infantil La Fe, Valencia, Spain. [Beneyto,M] Department of Genetics, Hospital La Fe, Valencia, Spain. [Segura,A] Department of Urology, Hospital General Universitario de Alicante, Alicante, Spain. [Borrás,V] Department of Pediatrics, Hospital de Granollers, Granollers, Spain. [Gabau,E] Department of Genetics, Corporació Hospitalaria Parc Taulí, Sabadell, Spain. [Caimarí,M] Department of Pediatrics, Hospital Son Dureta, Palma de Mallorca, Spain. [Rodríguez,A] Department of Pediatrics, Hospital Txagorritxu, Vitoria, Spain. [Martínez-Aedo,MJ] Department of Pediatric Endocrinology, Hospital Carlos Haya, Málaga, Spain.[Carrera,M] Centro de Patología Celular CPC, Barcelona, Spain. [Castaño,L] Research Institute, CIBERER, Instituto de Salud Carlos III, Hospital de Cruces, Bilbao, Spain. [Andrade,M] Department of Biochemistry, Hospital Xeral CIES, Vigo, Spain. [Bermúdez de la Vega,JA] Department of Pediatric Endocrinology, Hospital Virgen de la Macarena,Sevilla, Spain., This work was supported by grants from Instituto de Salud Carlos III, Madrid, Spain [PI06/0903 and CIBERER (Center for Biomedical Research on Rare Diseases)] and from AGAUR (University and Research Management and Evaluation Agency), Barcelona, Spain (SGR02 00042 and SGR05 00908).

المصدر: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universitat Politècnica de Catalunya (UPC)

مصطلحات موضوعية: Male, Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings], Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Gonadal dysgenesis, Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Oxidoreductases::Oxidoreductases Acting on CH-CH Group Donors::3-Oxo-5-alpha-Steroid 4-Dehydrogenase [Medical Subject Headings], Gene mutation, medicine.disease_cause, Disgenesia gonadal 46XY, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exons [Medical Subject Headings], Biochemistry, Reacción en cadena de la polimerasa por transcriptasa inversa, Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Transcription Factors::Receptors, Cytoplasmic and Nuclear::Receptors, Steroid::Receptors, Androgen [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Heterocigoto, Exon, Endocrinology, Complete androgen insensitivity syndrome, Testis, Disorders of sex development, Child, 3-oxo-5-alfa-esteroide 4-deshidrogenasa, Genetics, Gonadal Dysgenesis, 46,XY, Mutation, Named Groups::Persons::Age Groups::Child::Child, Preschool [Medical Subject Headings], Anatomy::Cells::Connective Tissue Cells::Fibroblasts [Medical Subject Headings], Reverse Transcriptase Polymerase Chain Reaction, Exons, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Nucleic Acid Amplification Techniques::Polymerase Chain Reaction::Reverse Transcriptase Polymerase Chain Reaction [Medical Subject Headings], Undervirilization, Psychiatry and Psychology::Behavior and Behavior Mechanisms::Behavior::Sexual Behavior [Medical Subject Headings], Phenotype, Phenomena and Processes::Genetic Phenomena::Genotype::Heterozygote [Medical Subject Headings], Receptors, Androgen, Receptores de andrógenos, Named Groups::Persons::Age Groups::Adolescent [Medical Subject Headings], Child, Preschool, Female, Named Groups::Persons::Age Groups::Infant [Medical Subject Headings], Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities::Urogenital Abnormalities::Disorders of Sex Development::46, XY Disorders of Sex Development::Gonadal Dysgenesis, 46,XY [Medical Subject Headings], medicine.medical_specialty, Heterozygote, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings], Adolescent, Sexual Behavior, Check Tags::Male [Medical Subject Headings], Exonas, Biology, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Internal medicine, medicine, Intrones, Humans, Named Groups::Persons::Age Groups::Child [Medical Subject Headings], Mutación, Biochemistry (medical), Anatomy::Urogenital System::Genitalia::Gonads::Testis [Medical Subject Headings], Infant, Fibroblasts, medicine.disease, Introns, Androgen receptor, Check Tags::Female [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Introns [Medical Subject Headings]

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee95fe3c9ea372221848db8eb441771eTest
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12781Test