المؤلفون: Mari-Beffa, Manuel, Mesa-Roman, Ana B. B., Duran, Ivan

المساهمون: [Marí-Beffa,M, Mesa-Román,AB, Duran,I] Department of Cell Biology, Genetics and Physiology, Faculty of Sciences, University of Málaga, IBIMA, Málaga, Spain. [Marí-Beffa,M, Duran,I] Networking Biomedical Research Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Andalusian Centre for Nanomedicine and Biotechnology-BIONAND, Málaga, Spain., This research is supported by grants PIGE-0178-2020, PID2020-117255RB-100, UMA18-FEDERJA-177, UMA18-FEDERJA-274, and CV20-81404 from Junta de Andalucía and the support of the Fundación AHUCE through a funding contract for OI research., [Mari-Beffa, Manuel] Univ Malaga, Fac Sci, IBIMA, Dept Cell Biol Genet & Physiol, Malaga, Spain, [Mesa-Roman, Ana B. B.] Univ Malaga, Fac Sci, IBIMA, Dept Cell Biol Genet & Physiol, Malaga, Spain, [Duran, Ivan] Univ Malaga, Fac Sci, IBIMA, Dept Cell Biol Genet & Physiol, Malaga, Spain, [Mari-Beffa, Manuel] Andalusian Ctr Nanomed & Biotechnol BIONAND, Networking Biomed Res Ctr Bioengn Biomat & Nanome, Malaga, Spain, [Duran, Ivan] Andalusian Ctr Nanomed & Biotechnol BIONAND, Networking Biomed Res Ctr Bioengn Biomat & Nanome, Malaga, Spain, Junta de Andalucia, Fundacion AHUCE

مصطلحات موضوعية: Candidate gene, Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings], Cilia function, Dwarfisms, Pez cebra, Dentinogénesis imperfecta, Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Exome [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Intraflagellar transport protein, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Dwarfism::Achondroplasia [Medical Subject Headings], Bone-formation, Ciliopatías, Functional-characterization, Persons::Persons::Age Groups::Adult [Medical Subject Headings], Zebrafish models, Diseases::Musculoskeletal Diseases::Bone Diseases::Bone Diseases, Developmental::Osteochondrodysplasias::Osteosclerosis::Osteopetrosis [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Fishes::Cypriniformes::Cyprinidae::Zebrafish [Medical Subject Headings], Skeletal ciliopathies, Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics [Medical Subject Headings], Targeted gene disruption, Natural-history, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies::Genome-Wide Association Study [Medical Subject Headings], Anatomy::Cells::Connective Tissue Cells::Macrophages::Osteoclasts [Medical Subject Headings], Disostosis, Modelos animales, Dysostosis, Osteopetrosis, Acrocefalosindactilia, Skeletal dysplasia, Osteoporosis, Osteogenesis imperfecta, Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genomics [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings], Induced osteoporosis, Developmental defects

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5cbf1b7f65cf8f89c3446e46fadc83ccTest
https://hdl.handle.net/10668/4068Test

المؤلفون: Peña-Chilet, María, Roldán Gema, Perez-Florido, Javier, Ortuño, Francisco M., Carmona, Rosario, Aquino, Virginia, Lopez-Lopez, Daniel, Loucera, Carlos, Fernandez-Rueda, Jose L., Gallego, Asunción, García-García, Francisco, González-Neira, Anna, Pita, Guillermo, Núñez-Torres, Rocío, Santoyo-López, Javier, Ayuso, Carmen, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Moreno-Pelayo, Miguel Ángel, Morin, Matías, Gallego-Martinez, Alvaro, Lopez-Escamez, Jose A., Borrego, Salud, Antiñolo, Guillermo, Amigo, Jorge, Salgado-Garrido, Josefa, Pasalodos-Sanchez, Sara, Morte, Beatriz, The Spanish Exome Crowdsourcing Consortium, Carracedo Álvarez, Ángel, Alonso, Ángel, Dopazo, Joaquín, Grinberg Vaisman, Daniel Raúl

المساهمون: [Peña-Chilet,M, Roldán,G, Perez-Florido,J, Ortuño,FM, Carmona,R, Aquino,V, Lopez-Lopez,D, Loucera,C, Fernandez-Rueda,JL, Dopazo,J] Clinical Bioinformatics Area, Fundacion Progreso y Salud (FPS), Hospital Virgen del Rocío, Sevilla, Spain. [Peña-Chilet,M, Dopazo,J] Bioinformatics in Rare Diseases (BiER), Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Sevilla, Spain. [Peña-Chilet,M, Dopazo,J] Computational Systems Medicine group, Institute of Biomedicine of Seville (IBIS) Hospital Virgen del Rocío, Sevilla, Spain. [Perez-Florido,J, Dopazo,J] Functional Genomics Node, FPS/ELIXIR-ES, Hospital Virgen del Rocío, Sevilla, Spain. [Gallego,A] Sistemas Genomicos, Paterna, Valencia, Spain. [García-Garcia,F] Unidad de Bioinformatica y Bioestadística, Centro de Investigacion Príncipe Felipe (CIPF), Valencia, Spain. [González-Neira,A, Pita,G, Núñez-Torres,R] Human Genotyping Unit–Centro Nacional de Genotipado (CEGEN), Human Cancer Genetics Programme, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. [Santoyo-López,J] Edinburgh Genomics, The University of Edinburgh, Edinburgh, UK. [Ayuso,C, Minguez,P, Avila-Fernandez,A, Corton,M] Department of Genetics, Instituto de Investigacion Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain. [Minguez,P] Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. [Moreno-Pelayo,MÁ, Morin,M] Servicio de Genetica, Ramón y Cajal Institute of Health Research (IRYCIS) and Biomedical Network Research Centre on Rare Diseases (CIBERER), Madrid, Spain, [Gallego-Martinez,A, Lopez-Escamez,JA] Otology & Neurotology Group CTS 495, Department of Genomic Medicine, Centre for Genomics and Oncological Research (GENYO), Pfizer University of Granada, Granada, Spain. [Gallego-Martinez,A, Lopez-Escamez,JA] Department of Otolaryngology, Instituto de Investigacion Biosanitaria, IBS. GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada, Spain. [Borrego,S, Antiñolo,G] Department of Maternofetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío /CSIC/University of Seville, Seville, Spain. [Borrego,S, Antiñolo,G] Centre for Biomedical Network Research on Rare Diseases (CIBERER), Seville, Spain. [Amigo,J, Carracedo,Á] Fundacion Pública Galega de Medicina Xenómica, SERGAS, IDIS, Santiago de Compostela, Spain. [Salgado-Garrido,J, Pasalodos-Sanchez,S, Alonso,Á] Navarrabiomed-IdiSNA, Complejo Hospitalario de Navarra, Universidad Publica de Navarra (UPNA), IdiSNA (Navarra Institute for Health Research), Pamplona, Navarra, Spain. [Morte,B] Undiagnosed Rare Diseases Programme (ENoD). Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain. [Carracedo,Á] Grupo de Medicina Xenomica, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), CIMUS, Universidade de Santiago de Compostela, Santiago de Compostela, España., Spanish Ministry of Economy and Competitiveness [SAF2017-88908-R, PT17/0009/0006 to J.D., PI19/00321 and CIBERER ACCI-06/07/0036 to C.A., PI14-948, PI17-1659 and CIBERER ACCI-06/07/0036 to M.A.M.P.], Regional Government of Madrid, RAREGenomics CM [B2017/BMD-3721 to C.A. and B2017/BMD3721 to M.A.M.P.], all co-funded with European Regional Development Funds (ERDF) as well as EU H2020-INFRADEV-1-2015-1 ELIXIR-EXCELERATE [676559], University Chair UAM-IIS-FJD of Genomic Medicine and the Ramon Areces Foundation also supported this work. Funding for open access charge: Spanish Ministry of Economy and Competitiveness [SAF2017-88908-R]., Ministerio de Economía, Industria y Competitividad (España), Comunidad de Madrid, European Commission, Fundación Ramón Areces, Ministerio de Economía y Competitividad (España), Centro de Investigación Biomédica en Red Enfermedades Raras (España), Universidad Autónoma de Madrid

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname
NUCLEIC ACIDS RESEARCH
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Nucleic Acids Research
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Repisalud
Instituto de Salud Carlos III (ISCIII)
Digibug. Repositorio Institucional de la Universidad de Granada
Digibug: Repositorio Institucional de la Universidad de Granada
Universidad de Granada (UGR)
r-FISABIO. Repositorio Institucional de Producción Científica
Peña-Chilet, M, Roldán, G, Perez-Florido, J, Ortuño, F M, Carmona, R, Aquino, V, Lopez-Lopez, D, Loucera, C, Fernandez-Rueda, J L, Gallego, A, González-Neira, A, Pita, G, Núñez-Torres, R, Santoyo-López, J, Ayuso, C, Minguez, P, Avila-Fernandez, A, Corton, M, Moreno-Pelayo, M Á, Morin, M, Gallego-Martinez, A, Lopez-Escamez, J A, Borrego, S, Antiñolo, G, Amigo, J, Salgado-Garrido, J, Pasalodos-Sanchez, S, Morte, B, Consortium, T S E C, Carracedo, Á, Alonso, Á & Dopazo, J 2021, ' CSVS, a crowdsourcing database of the Spanish population genetic variability ', Nucleic Acids Research, vol. 49, no. D1, pp. D1130-D1137 . https://doi.org/10.1093/nar/gkaa794Test

مصطلحات موضوعية: Genetics, population, Població, AcademicSubjects/SCI00010, computer.software_genre, Bases de dades, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], 0302 clinical medicine, Gene Frequency, Genética de poblaciones, Databases, Genetic, Database Issue, Exome, Precision Medicine, 0303 health sciences, education.field_of_study, Database, Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genetics, Population [Medical Subject Headings], Chromosome Mapping, Genomics, Bases de datos genéticas, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome, Human [Medical Subject Headings], 3. Good health, Databases, genetic, Information Science::Information Science::Data Collection::Crowdsourcing [Medical Subject Headings], Crowdsourcing, Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genomics [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Chromosome Mapping::Physical Chromosome Mapping [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Variation [Medical Subject Headings], Participación colectiva, Population, Proveïment participatiu, Biology, Variación genética, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Exome [Medical Subject Headings], Genètica de poblacions humanes, 03 medical and health sciences, Databases, Information Science::Information Science::Information Storage and Retrieval::Databases as Topic::Databases, Factual::Databases, Genetic [Medical Subject Headings], Genetic variation, Genetics, Humans, Genetic variability, Espanya, education, Allele frequency, Alleles, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings], 030304 developmental biology, Geographical Locations::Geographic Locations::Europe::Spain [Medical Subject Headings], Internet, Genoma humà -- Espanya, business.industry, Genome, Human, Genetic Variation, Human population genetics, Gene frequency, Frecuencia génica, Genetics, Population, Spain, Personalized medicine, business, Phenomena and Processes::Genetic Phenomena::Gene Frequency [Medical Subject Headings], computer, 030217 neurology & neurosurgery, Imputation (genetics), Software

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26a141d761ea5c57de5b280fb7cdefcdTest
https://hdl.handle.net/10668/4371Test

المؤلفون: Amanat, Sana, Requena, Teresa, Lopez-Escamez, Jose Antonio

المساهمون: [Amanat,S, Lopez-Escamez,JA] Otology & Neurotology Group CTS495, Department of Genomic Medicine, GENYO—Centre for Genomics and Oncological Research—Pfizer/University of Granada/Junta de Andalucía, PTS, Granada, Spain. [Requena,T] Centre for Discovery Brain Sciences, Edinburgh Medical School: Biomedical Sciences, University of Edinburgh, Edinburgh, UK. [Lopez-Escamez,JA] Department of Otolaryngology, Instituto de Investigación Biosanitaria ibs.GRANADA, Hospital Universitario Virgen de las Nieves, Universidad de Granada, Granada, Spain. [Lopez-Escamez,JA] Department of Surgery, Division of Otolaryngology, Universidad de Granada, Granada, Spain., This study was funded by H2020 MSCA-ITN-2016–722046 Grant (JALE). The project leading to these results has received funding from 'la Caixa' Foundation (ID 100010434), under agreement LCF/PR/DE18/52010002 (JALE). This project is part of the European School of Interdisciplinary Tinnitus (ESIT) research.

مصطلحات موضوعية: Exome sequencing, Genetic association studies, Secuenciación del exoma completo, Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings], Estudios de asociación genética, Extreme phenotype, Acúfeno, Epidemiología molecular, Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Rare Diseases [Medical Subject Headings], Diseases [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Exome [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Tinnitus, Diseases::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease [Medical Subject Headings], Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Molecular Epidemiology [Medical Subject Headings], Diseases::Otorhinolaryngologic Diseases::Ear Diseases::Hearing Disorders::Hearing Loss [Medical Subject Headings], Genetic epidemiology, Diseases::Otorhinolaryngologic Diseases::Ear Diseases::Hearing Disorders::Tinnitus [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Variation [Medical Subject Headings]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2636::1ffd672f7b0a07ee73ed367cd8e74da4Test
https://hdl.handle.net/10668/3528Test

المؤلفون: Fermín Mayoral, Fabio Rivas, Jesus Haro González, Franziska Degenhardt, Julian Hecker, Fermin Perez Perez, Marcella Rietschel, Michael Bauer, Margot Albus, Markus M. Nöthen, Sascha B. Fischer, Susana Gil Flores, Francisco del Río Noriega, Mehdi Pirooznia, Stefan Herms, Jana Strohmaier, Stephanie H. Witt, Fernando S. Goes, Margitta Borrmann-Hassenbach, Anna Maaser-Hecker, Sugirthan Sivalingam, Sven Cichon, Lorena M. Schenk, Georg Auburger, Andreas Reif, Fabian Streit, María González, Francisco J. Cabaleiro Fabeiro, Peter Nürnberg, Jose Guzman-Parra, Andreas J. Forstner, Holger Thiele, Guillermo Orozco Diaz, Andrea Pfennig, Céline S. Reinbold, Johannes Schumacher, Per Hoffmann

المساهمون: [Forstner,AJ, Schumacher,J] Centre for Human Genetics, University of Marburg, Marburg, Germany. [Forstner,AJ, Schenk,LM, Maaser-Hecker,A, Sivalingam,S, Degenhardt,F, Schumacher,J, Herms,S, Hoffmann,P, Nöthen,MM, Cichon,S] Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany. [Forstner,AJ, Fischer,SB, Reinbold,CS, Cichon,S] Department of Biomedicine, University of Basel, Basel, Switzerland. [Forstner,AJ] Department of Psychiatry (UPK), University of Basel, Basel, Switzerland. [Fischer,SB, Cichon,S] Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland. [Strohmaier,J, Streit,F, Witt,SH, Rietschel,M] Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany. [Strohmaier,J] SRH University Heidelberg, Academy for Psychotherapy, Heidelberg, Germany. [Reinbold,CS] Center for Lifespan Changes in Brain and Cognition (LCBC), Department of Psychology, University of Oslo, Oslo, Norway. [Hecker,J] Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA. [Thiele,H, Nürnberg,P] Cologne Center for Genomics, University of Cologne, Cologne, Germany. [Guzman-Parra,J, González,MJ] Department of Mental Health, University Regional Hospital of Málaga, Institute of Biomedicine of Málaga (IBIMA), Málaga, Spain. [Orozco Diaz,G] Unidad de Gestión Clínica del Dispositivo de Cuidados Críticos y Urgencias del Distrito Sanitario Málaga - Coin- Gudalhorce, Málaga, Spain. [Auburger,G] Experimental Neurology, Department of Neurology, Goethe University Hospital, Frankfurt am Main, Germany. [Albus,M, Borrmann-Hassenbach,M]Isar Amper Klinikum München Ost, kbo, Haar, Germany. [Gil Flores,S] Department of Mental Health, University Hospital of Reina Sofia, Cordoba, Spain. [Cabaleiro Fabeiro,FJ] Department of Mental Health, Hospital of Jaén, Jaén, Spain. [del Río Noriega,F] Department of Mental Health, Hospital of Jerez de la Frontera, Jerez de la Frontera, Spain. [Perez Perez,F] Department of Mental Health, Hospital of Puerto Real, Cádiz, Spain. [Haro González,J] Department of Mental Health, Hospital Punta de Europa, Algeciras, Spain. [Rivas,F, Mayoral,F] Department of Psychiatry, Carlos Haya Regional University Hospital, Malaga, Spain. [Bauer,M, Pfennig,A] Department of Psychiatry and Psychotherapy, Medical Faculty, University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany. [Reif,A] Department of Psychiatry, Psychosomatic Medicine and Psychotherapy, University Hospital Frankfurt am Main, Frankfurt am Main, Germany. [Hoffmann,P, Cichon,S] Institute of Neuroscience and Medicine (INM-1), Research Center Jülich, Jülich, Germany. [Pirooznia,M, Goes,FS] Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA, The study was supported by the German Federal Ministry of Education and Research (BMBF) through the Integrated Network IntegraMent (Integrated Understanding of Causes and Mechanisms in Mental Disorders), under the auspices of the e:Med Programme (grant 01ZX1314A/01ZX1614A to M.M.N. Forstner et al. Translational Psychiatry (2020) 10:57 Page 8 of 10 and S.C., grant 01ZX1314G/01ZX1614G to M.R.) and through ERA-NET NEURON, 'SynSchiz—Linking synaptic dysfunction to disease mechanisms in schizophrenia—a multilevel investigation' (01EW1810 to MR). The study was also supported by the German Research Foundation (DFG, grant FOR2107, RI908/11-1 and RI908/11–2 to M.R., NO246/10-1 and NO 246/10-2 to M.M.N.), and the Swiss National Science Foundation (SNSF, grant 156791 to S.C.). M.M.N. is a member of the DFG-funded Excellence-Cluster ImmunoSensation.

المصدر: Translational Psychiatry, Vol 10, Iss 1, Pp 1-10 (2020)
Translational Psychiatry 10, 59 (2020). doi:10.1038/s41398-020-0732-y
Translational Psychiatry 10(1), 57 (2020). doi:10.1038/s41398-020-0732-y
Translational Psychiatry

مصطلحات موضوعية: Candidate gene, Bipolar Disorder, Psychiatry and Psychology::Mental Disorders::Mood Disorders::Affective Disorders, Psychotic::Bipolar Disorder [Medical Subject Headings], Neuropsiquiatría, Disease, Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], 0302 clinical medicine, Germany, Exome, Exome sequencing, Genetics, 0303 health sciences, Trastorno bipolar, Predisposición genética a la enfermedad, Neuropsychiatry, Phenomena and Processes::Genetic Phenomena::Genotype::Genetic Predisposition to Disease [Medical Subject Headings], 3. Good health, Pedigree, Psychiatry and Mental health, Schizophrenia, Phenomena and Processes::Genetic Phenomena::Inheritance Patterns::Penetrance [Medical Subject Headings], Psychiatry and Psychology::Mental Disorders::Mental Disorders Diagnosed in Childhood::Child Development Disorders, Pervasive::Autistic Disorder [Medical Subject Headings], Biology, Molecular neuroscience, Article, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Exome [Medical Subject Headings], lcsh:RC321-571, 03 medical and health sciences, Cellular and Molecular Neuroscience, Exome Sequencing, medicine, Psychiatry and Psychology::Mental Disorders::Schizophrenia and Disorders with Psychotic Features::Schizophrenia [Medical Subject Headings], Humans, Genetic Predisposition to Disease, Bipolar disorder, ddc:610, Allele, Gene, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Biological Psychiatry, 030304 developmental biology, Geographical Locations::Geographic Locations::Europe::Spain [Medical Subject Headings], Secuenciación del exoma completo, Whole exome sequencing, Anatomy::Nervous System::Central Nervous System::Brain [Medical Subject Headings], medicine.disease, Geographical Locations::Geographic Locations::Europe::Germany [Medical Subject Headings], Autism, 030217 neurology & neurosurgery, RGS Proteins

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83391e776df9b8fe476990e7a4d4bcf9Test
https://hdl.handle.net/10668/15117Test

المؤلفون: García León, Francisco J., Aguado Romeo, María J., Sánchez Jiménez, Flora, Romero Tabares, Antonio, Benot López, Soledad

المساهمون: [García León,FJ, Benot López,S] AETSA Evaluación de Tecnologías Sanitarias de Andalucía. [Aguado Romero,MJ] Centro Regional de Transfusión Sanguínea y Banco Sectorial de Tejidos de Sevilla. [Sánchez Jiménez,F] Hospital Universitario Virgen Macarena. [Romero Tabares,A] Servicio Andaluz de Salud.

مصطلحات موضوعية: Diagnóstico, Revisión sistemática, Health Care::Health Care Quality, Access, and Evaluation::Quality of Health Care::Health Care Evaluation Mechanisms::Technology Assessment, Biomedical [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Exome [Medical Subject Headings], Congenital abnormalities, Minors, Evaluación de la tecnología biomédica, Menores, Technology assessment, Biomedical, Exoma, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis [Medical Subject Headings], Diagnosis, Systematic review, Anomalías congénitas, Persons::Persons::Minors [Medical Subject Headings], Exome, Diseases::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Congenital Abnormalities [Medical Subject Headings]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______2636::e3783ac303a7fccd7d2e7f3d7b0ddc5fTest
https://hdl.handle.net/10668/4278Test

المؤلفون: Guillermo Antiñolo, Nereida Bravo-Gil, Salud Borrego, Cristina Méndez-Vidal, Enrique Rodríguez de la Rúa, Joaquín Dopazo, Laura Romero-Pérez, María González del Pozo

المساهمون: [Bravo-Gil,N, Méndez-Vidal,C, Romero-Pérez,L, González-Del Pozo,M, Borrego,S, Antiñolo,G] Department of Genetics, Reproduction and Fetal Medicine, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain. [Bravo-Gil,N, Dopazo,J, Antiñolo,G] Centre for Biomedical Network Research on Rare Diseases (CIBERER), Spain. [Rodríguez-de la Rúa,E] Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain. [Dopazo,J] Computational Genomics Department, Centro de Investigación Príncipe Felipe (CIPF).Functional Genomics Node, (INB) at CIPF, Valencia, Spain., This work was supported by the Instituto de Salud Carlos III (ISCIII), Spanish Ministry of Economy and Competitiveness, Spain (PI11-02923), CIBERER ACCI, CDTI FEDER-Innterconecta (EXP00052887/ITC-20111037), Regional Ministry of Economy, Innovation, Science and Employment of the Autonomous Government of Andalusia (CTS-1664) and the Foundation Ramon Areces (CIVP16A1856). The CIBERER is an initiative of the ISCIII, Spanish Ministry of Economy and Competitiveness. NB-G is supported by fellowship FI12/00545 from ISCIII., Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), European Commission, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Centro para el Desarrollo Tecnológico Industrial (España), Junta de Andalucía, Fundación Ramón Areces

المصدر: Scientific Reports
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
instname
r-CIPF: Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Centro de Investigación Principe Felipe (CIPF)
Digital.CSIC. Repositorio Institucional del CSIC

مصطلحات موضوعية: 0301 basic medicine, Proband, Phenomena and Processes::Genetic Phenomena::Phenotype [Medical Subject Headings], Heterogeneidad genética, DNA Mutational Analysis, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide Sequencing [Medical Subject Headings], medicine.disease_cause, Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies [Medical Subject Headings], Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings], Exoma, Exome sequencing, Genetics, education.field_of_study, Mutation, Multidisciplinary, High-Throughput Nucleotide Sequencing, Disciplines and Occupations::Natural Science Disciplines::Biological Science Disciplines::Biology::Genetics::Genetics, Medical::Genetic Counseling [Medical Subject Headings], Phenotype, Distrofias retinianas, Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings], Fenotipo, Retinal Dystrophies, Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration::Retinal Dystrophies [Medical Subject Headings], Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings], DNA Copy Number Variations, Genetic counseling, Population, Biology, Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Exome [Medical Subject Headings], Article, 03 medical and health sciences, Genetic Heterogeneity, medicine, Humans, Computer Simulation, Allele, education, Eye Proteins, Alleles, Genetic Association Studies, Gene Library, Genetic heterogeneity, Estudios de asociación genética, Asesoramiento genético, Genetic Therapy, 030104 developmental biology, Phenomena and Processes::Genetic Phenomena::Genetic Variation::Genetic Heterogeneity [Medical Subject Headings], Genotipo

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الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2fda40aec435dd350ba74470be023715Test
https://fundanet.cipf.es/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=1453Test