Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Porras-Hurtado GL"'
Autor:
Tapiero-Rodriguez SM, Acosta Guio JC, Porras-Hurtado GL, García N, Solano M, Pachajoa H, Velasco HM
Publikováno v:
The Application of Clinical Genetics, Vol Volume 11, Pp 45-57 (2018)
Sandra M Tapiero-Rodriguez,1 Johanna C Acosta Guio,1 Gloria Liliana Porras-Hurtado,2 Natalia García,3 Martha Solano,4 Harry Pachajoa,5 Harvy M Velasco1 1Universidad Nacional de Colombia, Departamento de morfología, Maestría de genética humana, Bo
Externí odkaz:
https://doaj.org/article/3bf4880d6a114cfda310ce4a9f1487e0
Autor:
Cruz, R, Diz-de Almeida, S, de Heredia, ML, Quintela, I, Ceballos, FC, Lorenzo-Salazar, GM, Gonzalez-Montelongo, R, Gago-Dominguez, M, Porras, MS, Castano, JAT, Nevado, J, Aguado, JM, Aguilar, C, Aguilera-Albesa, S, Almadana, V, Almoguera, B, Alvarez, N, Andreu-Bernabeu, A, Arana-Arri, E, Arango, C, Arranz, MJ, Artiga, MJ, Baptista-Rosas, RC, Barreda-Sanchez, M, Belhassen-Garcia, M, Bezerra, JF, Bezerra, MAC, Boix-Palop, L, Brion, M, Brugada, R, Bustos, M, Calderon, EJ, Carbonell, C, Castano, L, Castelao, JE, Conde-Vicente, R, Cordero-Lorenzana, ML, Cortes-Sanchez, JL, Corton, M, Darnaude, MT, De Martino-Rodriguez, A, del Campo-Perez, V, de Bustamante, AD, Dominguez-Garrido, E, Luchessi, AD, Eiros, R, Sanabria, GME, Carmen Farinas, M, Fernandez-Robelo, U, Fernandez-Rodriguez, A, Fernandez-Villa, T, Gil-Fournier, B, Gomez-Arrue, J, Alvarez, BG, de Quiros, FGB, Gonzalez-Penas, J, Gutierrez-Bautista, JF, Herrero, MJ, Herrero-Gonzalez, A, Jimenez-Sousa, MA, Lattig, MC, Borja, AL, Lopez-Rodriguez, R, Mancebo, E, Martin-Lopez, C, Martin, V, Martinez-Nieto, O, Martinez-Lopez, I, Martinez-Resendez, MF, Martinez-Perez, A, Mazzeu, JF, Macias, EM, Minguez, P, Cuerda, VM, Silbiger, VN, Oliveira, SF, Ortega-Paino, E, Parellada, M, Paz-Artal, E, Santos, NPC, Perez-Matute, P, Perez, P, Perez-Tomas, ME, Perucho, T, Pinsach-Abuin, ML, Pompa-Mera, EN, Porras-Hurtado, GL, Pujol, A, Leon, SR, Resino, S, Fernandes, MR, Rodriguez-Ruiz, E, Rodriguez-Artalejo, F, Rodriguez-Garcia, JA, Cabello, FR, Ruiz-Hornillos, J, Ryan, P, Soria, JM, Souto, JC, Tamayo, E, Tamayo-Velasco, A, Taracido-Fernandez, JC, Teper, A, Torres-Tobar, L, Urioste, M, Valencia-Ramos, J, Yanez, Z, Zarate, R, Nakanishi, T, Pigazzini, S, Degenhardt, F, Butler-Laporte, G, Maya-Miles, D, Bujanda, L, Bouysran, Y, Palom, A, Ellinghaus, D, Martinez-Bueno, M, Rolker, S, Amitrano, S, Roade, L, Fava, F, Spinner, CD, Prati, D, Bernardo, D, Garcia, F, Darcis, G, Fernandez-Cadenas, I, Holter, JC, Banales, JM, Frithiof, R, Duga, S, Asselta, R, Pereira, AC, Romero-Gomez, M, Nafria-Jimenez, B, Hov, JR, Migeotte, I, Renieri, A, Planas, AM, Ludwig, KU, Buti, M, Rahmouni, S, Alarcon-Riquelme, ME, Schulte, EC, Franke, A, Karlsen, TH, Valenti, L, Zeberg, H, Richards, B, Ganna, A, Boada, M, de Rojas, I, Ruiz, A, Sanchez-Juan, P, Real, LM, Guillen-Navarro, E, Ayuso, C, Gonzalez-Neira, A, Riancho, JA, Rojas-Martinez, A, Flores, C, Lapunzina, P, Carracedo, A
Publikováno v:
HUMAN MOLECULAR GENETICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Here, we describe the results of a genome-wide study conducted in 11939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE consortium). In sex-disaggre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::b0847a182b644cdd2f442804a39d8a51
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12313
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12313
Autor:
Diz-de Almeida S; ERN-ITHACA-European Reference Network, Soria, Spain.; Pediatric Neurology Unit, Department of Pediatrics, Navarra Health Service Hospital, Pamplona, Spain.; CIBERER, ISCIII, Madrid, Spain.; Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Cruz R; ERN-ITHACA-European Reference Network, Soria, Spain.; Pediatric Neurology Unit, Department of Pediatrics, Navarra Health Service Hospital, Pamplona, Spain.; CIBERER, ISCIII, Madrid, Spain.; Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain., Luchessi AD; Universidade Federal do Rio Grande do Norte, Departamento de Analises Clinicas e Toxicologicas, Natal, Brazil., Lorenzo-Salazar JM; Genomics Division, Instituto Tecnológico y de Energías Renovables, Santa Cruz de Tenerife, Spain., de Heredia ML; CIBERER, ISCIII, Madrid, Spain., Quintela I; Fundación Pública Galega de Medicina Xenómica, Sistema Galego de Saúde (SERGAS), Santiago de Compostela, Spain., González-Montelongo R; Genomics Division, Instituto Tecnológico y de Energías Renovables, Santa Cruz de Tenerife, Spain., Nogueira Silbiger V; Universidade Federal do Rio Grande do Norte, Departamento de Analises Clinicas e Toxicologicas, Natal, Brazil., Porras MS; CIBERER, ISCIII, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz IDIPAZ, Madrid, Spain., Tenorio Castaño JA; ERN-ITHACA-European Reference Network, Soria, Spain.; CIBERER, ISCIII, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz IDIPAZ, Madrid, Spain., Nevado J; ERN-ITHACA-European Reference Network, Soria, Spain.; CIBERER, ISCIII, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz IDIPAZ, Madrid, Spain., Aguado JM; Unit of Infectious Diseases, Hospital Universitario 12 de Octubre, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Madrid, Spain.; Spanish Network for Research in Infectious Diseases (REIPI RD16/0016/0002), Instituto de Salud Carlos III, Madrid, Spain.; CIBERINFEC, ISCIII, Madrid, Spain., Aguilar C; Hospital General Santa Bárbara de Soria, Soria, Spain., Aguilera-Albesa S; Pediatric Neurology Unit, Department of Pediatrics, Navarra Health Service Hospital, Pamplona, Spain.; Navarra Health Service, NavarraBioMed Research Group, Pamplona, Spain., Almadana V; Hospital Universitario Virgen Macarena, Neumología, Sevilla, Spain., Almoguera B; CIBERER, ISCIII, Madrid, Spain.; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Alvarez N; Spanish National Cancer Research Centre, Human Genotyping-CEGEN Unit, Madrid, Spain., Andreu-Bernabeu Á; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón (IiSGM), Madrid, Spain.; School of Medicine, Universidad Complutense, Madrid, Spain., Arana-Arri E; Biocruces Bizkai HRI, Bizkaia, Spain.; Cruces University Hospital, Osakidetza, Bizkaia, Spain., Arango C; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón (IiSGM), Madrid, Spain.; School of Medicine, Universidad Complutense, Madrid, Spain.; Centre for Biomedical Network Research on Mental Health (CIBERSAM), Instituto de Salud Carlos III, Madrid, Spain., Arranz MJ; Fundació Docència I Recerca Mutua Terrassa, Barcelona, Spain., Artiga MJ; Spanish National Cancer Research Centre, CNIO Biobank, Madrid, Spain., Baptista-Rosas RC; Hospital General de Occidente, Zapopan Jalisco, Mexico.; Centro Universitario de Tonalá, Universidad de Guadalajara, Tonalá Jalisco, Mexico.; Centro de Investigación Multidisciplinario en Salud, Universidad de Guadalajara, Tonalá Jalisco, Mexico., Barreda-Sánchez M; Universidad Católica San Antonio de Murcia (UCAM), Murcia, Spain.; Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), Murcia, Spain., Belhassen-Garcia M; Hospital Universitario de Salamanca-IBSAL, Servicio de Medicina Interna-Unidad de Enfermedades Infecciosas, Salamanca, Spain., Bezerra JF; Escola Tecnica de Saúde, Laboratorio de Vigilancia Molecular Aplicada, Brasilia, Brazil., Bezerra MAC; Federal University of Pernambuco, Genetics Postgraduate Program, Recife, Brazil., Boix-Palop L; Hospital Universitario Mutua Terrassa, Barcelona, Spain., Brion M; Instituto de Investigación Sanitaria de Santiago (IDIS), Xenética Cardiovascular, Santiago de Compostela, Spain.; CIBERCV, ISCIII, Madrid, Spain., Brugada R; CIBERCV, ISCIII, Madrid, Spain.; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), Girona, Spain.; Medical Science Department, School of Medicine, University of Girona, Girona, Spain.; Hospital Josep Trueta, Cardiology Service, Girona, Spain., Bustos M; Institute of Biomedicine of Seville (IBiS), Consejo Superior de Investigaciones Científicas (CSIC)- University of Seville- Virgen del Rocio University Hospital, Seville, Spain., Calderón EJ; Institute of Biomedicine of Seville (IBiS), Consejo Superior de Investigaciones Científicas (CSIC)- University of Seville- Virgen del Rocio University Hospital, Seville, Spain.; Departamento de Medicina, Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Seville, Spain.; CIBERESP, ISCIII, Madrid, Spain., Carbonell C; Hospital Universitario de Salamanca-IBSAL, Servicio de Medicina Interna, Salamanca, Spain.; Universidad de Salamanca, Salamanca, Spain., Castano L; CIBERER, ISCIII, Madrid, Spain.; Biocruces Bizkai HRI, Bizkaia, Spain.; Osakidetza, Cruces University Hospital, Bizkaia, Spain.; Centre for Biomedical Network Research on Diabetes and Metabolic Associated Diseases (CIBERDEM), Instituto de Salud Carlos III, Madrid, Spain.; University of Pais Vasco, UPV/EHU, Bizkaia, Spain., Castelao JE; Oncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur, Xerencia de Xestion Integrada de Vigo-Servizo Galego de Saúde, Vigo, Spain., Conde-Vicente R; Hospital Universitario Río Hortega, Valladolid, Spain., Cordero-Lorenzana ML; Servicio de Medicina intensiva, Complejo Hospitalario Universitario de A Coruña (CHUAC), Sistema Galego de Saúde (SERGAS), A Coruña, Spain., Cortes-Sanchez JL; Tecnológico de Monterrey, Monterrey, Mexico.; Department of Microgravity and Translational Regenerative Medicine, Otto von Guericke University, Magdeburg, Germany., Corton M; CIBERER, ISCIII, Madrid, Spain.; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Darnaude MT; Hospital Universitario Mostoles, Unidad de Genética, Madrid, Spain., De Martino-Rodríguez A; Instituto Aragonés de Ciencias de la Salud (IACS), Zaragoza, Spain.; Instituto Investigación Sanitaria Aragón (IIS-Aragon), Zaragoza, Spain., Del Campo-Pérez V; Preventive Medicine Department, Instituto de Investigacion Sanitaria Galicia Sur, Xerencia de Xestion Integrada de Vigo-Servizo Galego de Saúde, Vigo, Spain., de Bustamante AD; Hospital Universitario Mostoles, Unidad de Genética, Madrid, Spain., Domínguez-Garrido E; Unidad Diagnóstico Molecular, Fundación Rioja Salud, La Rioja, Spain., Eirós R; Hospital Universitario de Salamanca-IBSAL, Servicio de Cardiología, Salamanca, Spain., Fariñas MC; IDIVAL, Cantabria, Spain.; Hospital U M Valdecilla, Cantabria, Spain.; Universidad de Cantabria, Cantabria, Spain., Fernandez-Nestosa MJ; Universidad Nacional de Asunción, Facultad de Politécnica, Paraguay, United States., Fernández-Robelo U; Urgencias Hospitalarias, Complejo Hospitalario Universitario de A Coruña (CHUAC), Sistema Galego de Saúde (SERGAS), A Coruña, Spain., Fernández-Rodríguez A; CIBERINFEC, ISCIII, Madrid, Spain.; Unidad de Infección Viral e Inmunidad, Centro Nacional de Microbiología (CNM), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Fernández-Villa T; CIBERESP, ISCIII, Madrid, Spain.; Grupo de Investigación en Interacciones Gen-Ambiente y Salud (GIIGAS) - Instituto de Biomedicina (IBIOMED), Universidad de León, León, Spain., Gago-Dominguez M; Fundación Pública Galega de Medicina Xenómica, Sistema Galego de Saúde (SERGAS), Santiago de Compostela, Spain.; IDIS, Seongnam, Republic of Korea., Gil-Fournier B; Hospital Universitario de Getafe, Servicio de Genética, Madrid, Spain., Gómez-Arrue J; Instituto Aragonés de Ciencias de la Salud (IACS), Zaragoza, Spain.; Instituto Investigación Sanitaria Aragón (IIS-Aragon), Zaragoza, Spain., Álvarez BG; Instituto Aragonés de Ciencias de la Salud (IACS), Zaragoza, Spain.; Instituto Investigación Sanitaria Aragón (IIS-Aragon), Zaragoza, Spain., Bernaldo de Quirós FG; Ministerio de Salud Ciudad de Buenos Aires, Buenos Aires, Argentina., González-Neira A; Spanish National Cancer Research Centre, Human Genotyping-CEGEN Unit, Madrid, Spain., González-Peñas J; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón (IiSGM), Madrid, Spain.; School of Medicine, Universidad Complutense, Madrid, Spain.; Centre for Biomedical Network Research on Mental Health (CIBERSAM), Instituto de Salud Carlos III, Madrid, Spain., Gutiérrez-Bautista JF; Hospital Universitario Virgen de las Nieves, Servicio de Análisis Clínicos e Inmunología, Granada, Spain., Herrero MJ; IIS La Fe, Plataforma de Farmacogenética, Valencia, Spain.; Universidad de Valencia, Departamento de Farmacología, Valencia, Spain., Herrero-Gonzalez A; Data Analysis Department, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Jimenez-Sousa MA; CIBERINFEC, ISCIII, Madrid, Spain.; Unidad de Infección Viral e Inmunidad, Centro Nacional de Microbiología (CNM), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Lattig MC; Universidad de los Andes, Facultad de Ciencias, Bogotá, Colombia.; SIGEN Alianza Universidad de los Andes - Fundación Santa Fe de Bogotá, Bogotá, Colombia., Borja AL; Hospital General de Segovia, Medicina Intensiva, Segovia, Spain., Lopez-Rodriguez R; CIBERER, ISCIII, Madrid, Spain.; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Facultad de Farmacia, Universidad San Pablo-CEU, CEU Universities, Urbanización Montepríncipe, Boadilla del Monte, Spain., Mancebo E; Hospital Universitario 12 de Octubre, Department of Immunology, Madrid, Spain.; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Transplant Immunology and Immunodeficiencies Group, Madrid, Spain., Martín-López C; Hospital General de Segovia, Medicina Intensiva, Segovia, Spain., Martín V; CIBERESP, ISCIII, Madrid, Spain.; Grupo de Investigación en Interacciones Gen-Ambiente y Salud (GIIGAS) - Instituto de Biomedicina (IBIOMED), Universidad de León, León, Spain., Martinez-Nieto O; SIGEN Alianza Universidad de los Andes - Fundación Santa Fe de Bogotá, Bogotá, Colombia.; Fundación Santa Fe de Bogota, Departamento Patologia y Laboratorios, Bogotá, Colombia., Martinez-Lopez I; Unidad de Genética y Genómica Islas Baleares, Islas Baleares, Spain.; Hospital Universitario Son Espases, Unidad de Diagnóstico Molecular y Genética Clínica, Islas Baleares, Spain., Martinez-Resendez MF; Tecnológico de Monterrey, Monterrey, Mexico., Martinez-Perez A; Genomics of Complex Diseases Unit, Research Institute of Hospital de la Santa Creu i Sant Pau, IIB Sant Pau, Barcelona, Spain., Mazzeu JF; Universidade de Brasília, Faculdade de Medicina, Brasília, Brazil.; Programa de Pós-Graduação em Ciências Médicas (UnB), Brasília, Brazil.; Programa de Pós-Graduação em Ciencias da Saude (UnB), Brazila, Brazil., Macías EM; Hospital El Bierzo, Unidad Cuidados Intensivos, León, Spain., Minguez P; CIBERER, ISCIII, Madrid, Spain.; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Cuerda VM; Hospital Universitario Mostoles, Medicina Interna, Madrid, Spai, Spain.; Universidad Francisco de Vitoria, Madrid, Spain., Oliveira SF; Programa de Pós-Graduação em Ciencias da Saude (UnB), Brazila, Brazil.; Departamento de Genética e Morfologia, Instituto de Ciências Biológicas, Universidade de Brasília, Brasília, Brazil.; Programa de Pós-Graduação em Biologia Animal (UnB), Brasília, Brazil.; Programa de Pós-Graduação Profissional em Ensino de Biologia (UnB), Brasília, Brazil., Ortega-Paino E; Spanish National Cancer Research Centre, CNIO Biobank, Madrid, Spain., Parellada M; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón (IiSGM), Madrid, Spain.; School of Medicine, Universidad Complutense, Madrid, Spain.; Centre for Biomedical Network Research on Mental Health (CIBERSAM), Instituto de Salud Carlos III, Madrid, Spain., Paz-Artal E; Hospital Universitario 12 de Octubre, Department of Immunology, Madrid, Spain.; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Transplant Immunology and Immunodeficiencies Group, Madrid, Spain.; Universidad Complutense de Madrid, Department of Immunology, Ophthalmology and ENT, Madrid, Spain., Santos NPC; Universidade Federal do Pará, Núcleo de Pesquisas em Oncologia, Belém, Brazil., Pérez-Matute P; Infectious Diseases, Microbiota and Metabolism Unit, CSIC Associated Unit, Center for Biomedical Research of La Rioja (CIBIR), Logroño, Spain., Perez P; Inditex, A Coruña, Corunna, Spain., Pérez-Tomás ME; Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), Murcia, Spain., Perucho T; GENYCA, Madrid, Spain., Pinsach-Abuin M; CIBERCV, ISCIII, Madrid, Spain.; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), Girona, Spain., Pita G; Spanish National Cancer Research Centre, Human Genotyping-CEGEN Unit, Madrid, Spain., Pompa-Mera EN; Instituto Mexicano del Seguro Social (IMSS), Centro Médico Nacional Siglo XXI, Unidad de Investigación Médica en Enfermedades Infecciosas y Parasitarias, Mexico City, Mexico.; Instituto Mexicano del Seguro Social (IMSS), Centro Médico Nacional La Raza, Hospital de Infectología, Mexico City, Mexico., Porras-Hurtado GL; Clinica Comfamiliar Risaralda, Pereira, Colombia., Pujol A; CIBERER, ISCIII, Madrid, Spain.; Bellvitge Biomedical Research Institute (IDIBELL), Neurometabolic Diseases Laboratory, L'Hospitalet de Llobregat, Barcelona, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain., León SR; Hospital Universitario de Getafe, Servicio de Genética, Madrid, Spain., Resino S; CIBERINFEC, ISCIII, Madrid, Spain.; Unidad de Infección Viral e Inmunidad, Centro Nacional de Microbiología (CNM), Instituto de Salud Carlos III (ISCIII), Madrid, Spain., Fernandes MR; Universidade Federal do Pará, Núcleo de Pesquisas em Oncologia, Belém, Brazil.; Hospital Ophir Loyola, Departamento de Ensino e Pesquisa, Belém, Brazil., Rodríguez-Ruiz E; IDIS, Seongnam, Republic of Korea.; Unidad de Cuidados Intensivos, Hospital Clínico Universitario de Santiago (CHUS), Sistema Galego de Saúde (SERGAS), Santiago de Compostela, Spain., Rodriguez-Artalejo F; CIBERESP, ISCIII, Madrid, Spain.; Department of Preventive Medicine and Public Health, School of Medicine, Universidad Autónoma de Madrid, Madrid, Spain.; IdiPaz (Instituto de Investigación Sanitaria Hospital Universitario La Paz), Madrid, Spain.; IMDEA-Food Institute, CEI UAM+CSIC, Madrid, Spain., Rodriguez-Garcia JA; Complejo Asistencial Universitario de León, León, Spain., Ruiz-Cabello F; IDIS, Seongnam, Republic of Korea.; Instituto de Investigación Biosanitaria de Granada (ibs GRANADA), Granada, Spain.; Universidad de Granada, Departamento Bioquímica, Biología Molecular e Inmunología III, Granada, Spain., Ruiz-Hornillos J; Hospital Infanta Elena, Allergy Unit, Valdemoro, Madrid, Spain.; Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Faculty of Medicine, Universidad Francisco de Vitoria, Madrid, Spain., Ryan P; CIBERINFEC, ISCIII, Madrid, Spain.; Hospital Universitario Infanta Leonor, Madrid, Spain.; Complutense University of Madrid, Madrid, Spain.; Gregorio Marañón Health Research Institute (IiSGM), Madrid, Spain., Soria JM; Genomics of Complex Diseases Unit, Research Institute of Hospital de la Santa Creu i Sant Pau, IIB Sant Pau, Barcelona, Spain., Souto JC; Haemostasis and Thrombosis Unit, Hospital de la Santa Creu i Sant Pau, IIB Sant Pau, Barcelona, Spain., Tamayo E; Hospital Clinico Universitario de Valladolid, Servicio de Anestesiologia y Reanimación, Valladolid, Spain.; Universidad de Valladolid, Departamento de Cirugía, Valladolid, Spain., Tamayo-Velasco A; Hospital Clinico Universitario de Valladolid, Servicio de Hematologia y Hemoterapia, Valladolid, Spain., Taracido-Fernandez JC; Data Analysis Department, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Teper A; Hospital de Niños Ricardo Gutierrez, Buenos Aires, Argentina., Torres-Tobar L; Fundación Universitaria de Ciencias de la Salud, Bogotá, Colombia., Urioste M; Spanish National Cancer Research Centre, Familial Cancer Clinical Unit, Madrid, Spain., Valencia-Ramos J; University Hospital of Burgos, Burgos, Spain., Yáñez Z; Universidad Simón Bolívar, Facultad de Ciencias de la Salud, Barranquilla, Colombia., Zarate R; Centro para el Desarrollo de la Investigación Científica, Asunción, Paraguay., de Rojas I; Centre for Biomedical Network Research on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.; Research Center and Memory clinic, ACE Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain., Ruiz A; Centre for Biomedical Network Research on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, Madrid, Spain.; Research Center and Memory clinic, ACE Alzheimer Center Barcelona, Universitat Internacional de Catalunya, Barcelona, Spain., Sánchez P; CIEN Foundation/Queen Sofia Foundation Alzheimer Center, Madrid, Spain., Real LM; Hospital Universitario de Valme, Unidad Clínica de Enfermedades Infecciosas y Microbiología, Sevilla, Spain., Guillen-Navarro E; Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), Murcia, Spain.; Sección Genética Médica - Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Servicio Murciano de Salud, Murcia, Spain.; Departamento Cirugía, Pediatría, Obstetricia y Ginecología, Facultad de Medicina, Universidad de Murcia (UMU), Murcia, Spain.; Grupo Clínico Vinculado, Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Ayuso C; CIBERER, ISCIII, Madrid, Spain.; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain., Parra E; Department of Anthropology, University of Toronto at Mississauga, Mississauga, Canada., Riancho JA; CIBERER, ISCIII, Madrid, Spain.; IDIVAL, Cantabria, Spain.; Hospital U M Valdecilla, Cantabria, Spain.; Universidad de Cantabria, Cantabria, Spain., Rojas-Martinez A; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Mexico., Flores C; Genomics Division, Instituto Tecnológico y de Energías Renovables, Santa Cruz de Tenerife, Spain.; Research Unit, Hospital Universitario Nuestra Señora de Candelaria, Instituto de Investigación Sanitaria de Canarias, Santa Cruz de Tenerife, Spain.; Department of Clinical Sciences, University Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain.; Centre for Biomedical Network Research on Respiratory Diseases (CIBERES), Instituto de Salud Carlos III, Madrid, Spain., Lapunzina P; ERN-ITHACA-European Reference Network, Soria, Spain.; CIBERER, ISCIII, Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz IDIPAZ, Madrid, Spain., Carracedo Á; CIBERER, ISCIII, Madrid, Spain.; Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, Santiago de Compostela, Spain.; Fundación Pública Galega de Medicina Xenómica, Sistema Galego de Saúde (SERGAS), Santiago de Compostela, Spain.; IDIS, Seongnam, Republic of Korea.
Publikováno v:
ELife [Elife] 2024 Oct 03; Vol. 13. Date of Electronic Publication: 2024 Oct 03.
Autor:
Velasquez-Minoli JP; Automatic Research Group, Universidad Tecnológica de Pereira, Pereira, Colombia.; pereira, Colombia., Cardona-Ramirez N; Salud Comfamiliar, Caja de Compensación Familiar de Risaralda, Pereira, Colombia., Garcia-Arias HF; Salud Comfamiliar, Caja de Compensación Familiar de Risaralda, Pereira, Colombia.; SISTEMIC Research Group, Universidad de Antioquia, Medellín, Colombia., Restrepo-Restrepo F; Investigación y Docencia, Hospital Pablo Tobón Uribe, Medellín, Colombia., Porras-Hurtado GL; Salud Comfamiliar, Caja de Compensación Familiar de Risaralda, Pereira, Colombia. gporras@comfamiliar.com.
Publikováno v:
Italian journal of pediatrics [Ital J Pediatr] 2024 Apr 09; Vol. 50 (1), pp. 66. Date of Electronic Publication: 2024 Apr 09.
Autor:
Parra A; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain., Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA.; Clinical Genetics, NYU Orthopedic Hospital, New York, NY 10010, USA., Pascual P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain., Cazalla M; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain., Arias P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain., Gallego-Zazo N; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain., Santana A; Clinical Genetics Unit, Complejo Hospitalario Universitario Insular-Materno Infantil de Las Palmas de Gran Canaria, 35016 Las Palmas de Gran Canaria, Spain., Arroyo I; Pediatrics Department, San Pedro de Alcántara Hospital, 10003 Cáceres, Spain., Artigas M; Genetics Unit, Hospital de Navarra, 31008 Pamplona, Spain., Pachajoa H; Fundación Valle del Lili, Universidad Icesi, 760032 Cali, Colombia., Alanay Y; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.; Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey., Akgun-Dogan O; Division of Pediatric Genetics, Department of Pediatrics, Faculty of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey.; Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem Mehmet Ali Aydinlar University, Istanbul 34752, Turkey., Ruaud L; Department of Genetics, APHP-Robert Debré University Hospital, 75019 Paris, France.; INSERM UMR1141, Neurodiderot, University of Paris Cité, 75019 Paris, France., Couque N; Department of Genetics, APHP-Robert Debré University Hospital, 75019 Paris, France.; Laboratoire de Biologie Médicale Multisites Seqoia-FMG2025, 75014 Paris, France., Levy J; Department of Genetics, APHP-Robert Debré University Hospital, 75019 Paris, France.; Laboratoire de Biologie Médicale Multisites Seqoia-FMG2025, 75014 Paris, France., Porras-Hurtado GL; Línea de Investigación de Anomalías Congénitas y Enfermedades Huérfanas-Comfamiliar, Risaralda, Colombia., Santos-Simarro F; Unidad de Diagnóstico Molecular y Genética Clínica, Hospital Universitario Son Espases, Idisba, 07120 Palma de Mallorca, Spain., Ballesta-Martinez MJ; Sección de Genética Médica, Hospital Clínico Universitario Virgen de la Arrixaca, 30120 Murcia, Spain.; Instituto Murciano de Investigación Biosanitaria (IMIB), 30120 Murcia, Spain., Guillén-Navarro E; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; Instituto Murciano de Investigación Biosanitaria (IMIB), 30120 Murcia, Spain., Muñoz-Hernández H; Department of Biology, Institute of Molecular Biology and Biophysics, ETH Zurich, 8092 Zurich, Switzerland., Nevado J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain., Spanish OverGrowth Registry Initiative; Spanish OverGrowth Registry Initiative, La Paz University Hospital, 28046 Madrid, Spain., Tenorio-Castano J; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, 28046 Madrid, Spain.; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, 28046 Madrid, Spain.; ITHACA, European Reference Network, Hospital Universitario La Paz, 28046 Madrid, Spain.
Publikováno v:
Genes [Genes (Basel)] 2023 May 29; Vol. 14 (6). Date of Electronic Publication: 2023 May 29.
Autor:
Rodriguez FH; International Center Research In Health Comfamiliar, Comfamiliar Risaralda, Pereira, Risaralda, Colombia. investigacionensalud@comfamiliar.com., Estrada JM; International Center Research In Health Comfamiliar, Comfamiliar Risaralda, Pereira, Risaralda, Colombia., Quintero HMA; Department of Endocrinology, Comfamiliar Risaralda, Pereira, Risaralda, Colombia., Nogueira JP; Adjunct researcher of CONICET, National University of Formosa, Formosa, Argentina., Porras-Hurtado GL; International Center Research In Health Comfamiliar, Comfamiliar Risaralda, Pereira, Risaralda, Colombia.
Publikováno v:
Lipids in health and disease [Lipids Health Dis] 2023 Mar 28; Vol. 22 (1), pp. 43. Date of Electronic Publication: 2023 Mar 28.
Autor:
Quiat D; Department of Cardiology, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; Department of Genetics, Harvard Medical School, Boston, MA., Timberlake AT; Hansjörg Wyss Department of Plastic and Reconstructive Surgery, NYU Langone Medical Center, New York, NY., Curran JJ; Department of Genetics, Harvard Medical School, Boston, MA., Cunningham ML; Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA., McDonough B; Department of Genetics, Harvard Medical School, Boston, MA., Artunduaga MA; Respira Labs, Inc, Mountain View, CA., DePalma SR; Department of Genetics, Harvard Medical School, Boston, MA., Duenas-Roque MM; Hospital Edgardo Rebagliati Martins, EsSalud, Lima, Peru., Gorham JM; Department of Genetics, Harvard Medical School, Boston, MA., Gustafson JA; Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA., Hamdan U; Global Smile Foundation, Norwood, MA., Hing AV; Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA., Hurtado-Villa P; Pontificia Universidad Javeriana and Centro Médico Imbanaco, Cali, Colombia., Nicolau Y; Texas ENT Specialists, Houston, TX., Osorno G; Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia., Pachajoa H; Servicio de Genética Médica, Fundación Valle del Lili, Cali, Colombia; Centro de Investigación en Anomalías Congénitas y Enfermedades Raras (CIACER), Universidad Icesi, Cali, Colombia., Porras-Hurtado GL; Clinica Comfamiliar Risaralda, Pereira, Colombia., Quintanilla-Dieck L; Department of Otolaryngology Head and Neck Surgery, Oregon Health & Science University, Portland, OR., Serrano L; Audiocentro, Cuenca, Ecuador., Tumblin M; Ear Community, Inc, Broomfield, CO., Zarante I; Human Genomics Institute, Pontificia Universidad Javeriana, Bogotá, Colombia; Hospital Universitario San Ignacio, Bogotá, Colombia., Luquetti DV; Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA., Eavey RD; Department of Otolaryngology-Head & Neck Surgery, Vanderbilt University Medical Center, Nashville, TN. Electronic address: ron.eavey@vumc.org., Heike CL; Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA. Electronic address: carrie.heike@seattlechildrens.org., Seidman JG; Department of Genetics, Harvard Medical School, Boston, MA. Electronic address: seidman@genetics.med.harvard.edu., Seidman CE; Department of Genetics, Harvard Medical School, Boston, MA; Cardiovascular Division, Brigham and Women's Hospital, Boston, MA; Howard Hughes Medical Institute, Chevy Chase, MD. Electronic address: cseidman@genetics.med.harvard.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 143-150. Date of Electronic Publication: 2022 Oct 19.
Autor:
Cruz R; Centro Nacional de Genotipado (CEGEN), Universidade de Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Instituto de Investigación Sanitaria de Santiago (IDIS), 15706 Santiago de Compostela, Spain.; Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain., Diz-de Almeida S; Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain., López de Heredia M; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Quintela I; Centro Nacional de Genotipado (CEGEN), Universidade de Santiago de Compostela, 15706 Santiago de Compostela, Spain., Ceballos FC; Unidad de Infección Viral e Inmunidad, Centro Nacional de Microbiología (CNM), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain., Pita G; Spanish National Cancer Research Centre, Human Genotyping-CEGEN Unit, 28029 Madrid, Spain., Lorenzo-Salazar JM; Genomics Division, Instituto Tecnológico y de Energías Renovables, 38600 Santa Cruz de Tenerife, Spain., González-Montelongo R; Genomics Division, Instituto Tecnológico y de Energías Renovables, 38600 Santa Cruz de Tenerife, Spain., Gago-Domínguez M; Fundación Pública Galega de Medicina Xenómica, Sistema Galego de Saúde (SERGAS), 15706 Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago (IDIS), 15706 Santiago de Compostela, Spain., Sevilla Porras M; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain., Tenorio Castaño JA; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain.; ERN-ITHACA-European Reference Network., Nevado J; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain.; ERN-ITHACA-European Reference Network., Aguado JM; Unit of Infectious Diseases, Hospital Universitario 12 de Octubre, Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), 28041 Madrid, Spain.; Spanish Network for Research in Infectious Diseases (REIPI RD16/0016/0002), Instituto de Salud Carlos III, 28029 Madrid, Spain.; School of Medicine, Universidad Complutense, 28040 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, 28029 Madrid, Spain., Aguilar C; Hospital General Santa Bárbara de Soria, 42005 Soria, Spain., Aguilera-Albesa S; Pediatric Neurology Unit, Department of Pediatrics, Navarra Health Service Hospital, 31008 Pamplona, Spain.; Navarra Health Service, NavarraBioMed Research Group, 31008 Pamplona, Spain., Almadana V; Hospital Universitario Virgen Macarena, Neumología, 41009 Seville, Spain., Almoguera B; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Alvarez N; Spanish National Cancer Research Centre, Human Genotyping-CEGEN Unit, 28029 Madrid, Spain., Andreu-Bernabeu Á; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón (IiSGM), 28007 Madrid, Spain.; School of Medicine, Universidad Complutense, 28040 Madrid, Spain., Arana-Arri E; Biocruces Bizkai HRI, 48903 Barakaldo, Bizkaia, Spain.; Cruces University Hospital, Osakidetza, 48903 Barakaldo, Bizkaia, Spain., Arango C; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón (IiSGM), 28007 Madrid, Spain.; Centre for Biomedical Network Research on Mental Health (CIBERSAM), Instituto de Salud Carlos III, 28029 Madrid, Spain.; School of Medicine, Universidad Complutense, 28040 Madrid, Spain., Arranz MJ; Fundació Docència I Recerca Mutua Terrassa, 08221 Terrassa, Spain., Artiga MJ; Spanish National Cancer Research Center, CNIO Biobank, 28029 Madrid, Spain., Baptista-Rosas RC; Hospital General de Occidente, 45170 Zapopan, Jalisco, Mexico.; Centro Universitario de Tonalá, Universidad de Guadalajara, 45425 Tonalá, Jalisco, Mexico.; Centro de Investigación Multidisciplinario en Salud, Universidad de Guadalajara, 45425 Tonalá, Jalisco, Mexico., Barreda-Sánchez M; Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), 30120 Murcia, Spain.; Universidad Católica San Antonio de Murcia (UCAM), 30120 Murcia, Spain., Belhassen-Garcia M; Hospital Universitario de Salamanca-IBSAL, Servicio de Medicina Interna-Unidad de Enfermedades Infecciosas, 37007 Salamanca, Spain.; Universidad de Salamanca, 37007 Salamanca, Spain., Bezerra JF; Escola Tecnica de Saúde, Laboratorio de Vigilancia Molecular Aplicada, 68515-000 Pará, Brazil., Bezerra MAC; Federal University of Pernambuco, Genetics Postgraduate Program, Recife 50670-907, PE, Brazil., Boix-Palop L; Hospital Universitario Mutua Terrassa, 08221 Terrassa, Spain., Brion M; Instituto de Investigación Sanitaria de Santiago (IDIS), Xenética Cardiovascular, 15706 Santiago de Compostela, Spain.; Centre for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Instituto de Salud Carlos III, 28029 Madrid, Spain., Brugada R; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), 17190 Girona, Spain.; Medical Science Department, School of Medicine, University of Girona, 17190 Girona, Spain.; Centre for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Hospital Josep Trueta, Cardiology Service, 17190 Girona, Spain., Bustos M; Institute of Biomedicine of Seville (IBiS), Consejo Superior de Investigaciones Científicas (CSIC)- University of Seville- Virgen del Rocio University Hospital, 41013 Seville, Spain., Calderón EJ; Departemento de Medicina, Hospital Universitario Virgen del Rocío, Universidad de Sevilla, 41013 Seville, Spain.; Centre for Biomedical Network Research on Epidemiology and Public Health (CIBERESP), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Instituto de Biomedicina de Sevilla, 41013 Seville, Spain., Carbonell C; Hospital Universitario de Salamanca-IBSAL, Servicio de Medicina Interna, 37007 Salamanca, Spain.; Universidad de Salamanca, 37007 Salamanca, Spain., Castano L; Biocruces Bizkai HRI, 48903 Barakaldo, Bizkaia, Spain.; Osakidetza, Cruces University Hospital, 48903 Barakaldo, Bizkaia, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Centre for Biomedical Network Research on Diabetes and Metabolic Associated Diseases (CIBERDEM), Instituto de Salud Carlos III, 28029 Madrid, Spain.; University of Pais Vasco, UPV/EHU, 48903 Bizkaia, Spain., Castelao JE; Oncology and Genetics Unit, Instituto de Investigacion Sanitaria Galicia Sur, Xerencia de Xestion Integrada de Vigo-Servizo Galego de Saúde, 36312 Vigo, Spain., Conde-Vicente R; Hospital Universitario Río Hortega, 47012 Valladolid, Spain., Cordero-Lorenzana ML; Servicio de Medicina intensiva, Complejo Hospitalario Universitario de A Coruña (CHUAC), Sistema Galego de Saúde (SERGAS), 15009 A Coruña, Spain., Cortes-Sanchez JL; Tecnológico de Monterrey, 64718 Monterrey, Mexico.; Otto von Guericke University, Departament of Microgravity and Translational Regenerative Medicine, 39106 Magdeburg, Germany., Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Darnaude MT; Hospital Universitario Mostoles, Unidad de Genética, 28935 Madrid, Spain., De Martino-Rodríguez A; Instituto Aragonés de Ciencias de la Salud (IACS), 50009 Zaragoza, Spain.; Instituto Investigación Sanitaria Aragón (IIS-Aragon), 50009 Zaragoza, Spain., Del Campo-Pérez V; Preventive Medicine Department, Instituto de Investigacion Sanitaria Galicia Sur, Xerencia de Xestion Integrada de Vigo-Servizo Galego de Saúde, 36312 Vigo, Spain., Diaz de Bustamante A; Hospital Universitario Mostoles, Unidad de Genética, 28935 Madrid, Spain., Domínguez-Garrido E; Unidad Diagnóstico Molecular. Fundación Rioja Salud, 26006 La Rioja, Spain., Luchessi AD; Universidade Federal do Rio Grande do Norte, Departamento de Analises Clinicas e Toxicologicas, 59012-570 Natal, Brazil., Eiros R; Hospital Universitario de Salamanca-IBSAL, Servicio de Cardiología, 37007 Salamanca, Spain., Estigarribia Sanabria GM; Instituto Regional de Investigación en Salud-Universidad Nacional de Caaguazú, HH36+J3Q Caaguazú, Paraguay., Carmen Fariñas M; IDIVAL, 39008 Cantabria, Spain.; Universidad de Cantabria, 39008 Cantabria, Spain.; Hospital U M Valdecilla, 39008 Cantabria, Spain., Fernández-Robelo U; Urgencias Hospitalarias, Complejo Hospitalario Universitario de A Coruña (CHUAC), Sistema Galego de Saúde (SERGAS), 15009 A Coruña, Spain., Fernández-Rodríguez A; Unidad de Infección Viral e Inmunidad, Centro Nacional de Microbiología (CNM), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, 28029 Madrid, Spain., Fernández-Villa T; Grupo de Investigación en Interacciones Gen-Ambiente y Salud (GIIGAS) - Instituto de Biomedicina (IBIOMED), Universidad de León, 24071 León, Spain., Gil-Fournier B; Hospital Universitario de Getafe, Servicio de Genética, 28905 Madrid, Spain., Gómez-Arrue J; Instituto Aragonés de Ciencias de la Salud (IACS), 50009 Zaragoza, Spain.; Instituto Investigación Sanitaria Aragón (IIS-Aragon), 50009 Zaragoza, Spain., González Álvarez B; Instituto Aragonés de Ciencias de la Salud (IACS), 50009 Zaragoza, Spain.; Instituto Investigación Sanitaria Aragón (IIS-Aragon), 50009 Zaragoza, Spain., Gonzalez Bernaldo de Quirós F; Ministerio de Salud Ciudad de Buenos Aires, Buenos Aires C1425EFD CABA, Argentina., González-Peñas J; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón (IiSGM), 28007 Madrid, Spain.; School of Medicine, Universidad Complutense, 28040 Madrid, Spain.; Centre for Biomedical Network Research on Mental Health (CIBERSAM), Instituto de Salud Carlos III, 28029 Madrid, Spain., Gutiérrez-Bautista JF; Hospital Universitario Virgen de las Nieves, Servicio de Análisis Clínicos e Inmunología, 18014 Granada, Spain., Herrero MJ; IIS La Fe, Plataforma de Farmacogenética, 46026 Valencia, Spain.; Universidad de Valencia, Departamento de Farmacología, 46010 Valencia, Spain., Herrero-Gonzalez A; Data Analysis Department, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain., Jimenez-Sousa MA; Unidad de Infección Viral e Inmunidad, Centro Nacional de Microbiología (CNM), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, 28029 Madrid, Spain., Lattig MC; Universidad de los Andes, Facultad de Ciencias, Bogotá 111711, Colombia.; SIGEN Alianza Universidad de los Andes - Fundación Santa Fe de Bogotá, Bogotá 111711, Clombia., Liger Borja A; Hospital General de Segovia, Medicina Intensiva, 40002 Segovia, Spain., Lopez-Rodriguez R; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Mancebo E; Hospital Universitario 12 de Octubre, Department of Immunology, 28041 Madrid, Spain.; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Transplant Immunology and Immunodeficiencies Group, 28041 Madrid, Spain., Martín-López C; Hospital General de Segovia, Medicina Intensiva, 40002 Segovia, Spain., Martín V; Instituto de Biomedicina (IBIOMED), Universidad de León, 24071 León, Spain.; Centre for Biomedical Network Research on Epidemiology and Public Health (CIBERESP), Instituto de Salud Carlos III, 28029 Madrid, Spain., Martinez-Nieto O; Fundación Santa Fe de Bogota, Departamento Patologia y Laboratorios, Bogotá 111711, Colombia.; SIGEN Alianza Universidad de los Andes - Fundación Santa Fe de Bogotá, Bogotá 111711, Clombia., Martinez-Lopez I; Unidad de Genética y Genómica Islas Baleares, 07120 Islas Baleares, Spain.; Hospital Universitario Son Espases, Unidad de Diagnóstico Molecular y Genética Clínica, 07120 Islas Baleares, Spain., Martinez-Resendez MF; Tecnológico de Monterrey, 64718 Monterrey, Mexico., Martinez-Perez A; Genomics of Complex Diseases Unit, Research Institute of Hospital de la Santa Creu i Sant Pau, IIB Sant Pau, 08041 Barcelona, Spain., Mazzeu JF; Faculdade de Medicina, Universidade de Brasília, Brasilia 70910-900, Brazil.; Programa de Pós-Graduação em Ciências Médicas, Universidade de Brasília, Brasilia 70910-900, Brazil.; Programa de Pós-Graduação em Ciências da Saúde, Universidade de Brasília, Brasilia 70910-900, Brazil., Merayo Macías E; Hospital El Bierzo, Unidad Cuidados Intensivos, 24404 León, Spain., Minguez P; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Moreno Cuerda V; Hospital Universitario Mostoles, Medicina Interna, 28935 Madrid, Spain.; Universidad Francisco de Vitoria, 28223 Madrid, Spain., Silbiger VN; Universidade Federal do Rio Grande do Norte, Departamento de Analises Clinicas e Toxicologicas, 59012-570 Natal, Brazil., Oliveira SF; Faculdade de Medicina, Universidade de Brasília, Brasilia 70910-900, Brazil.; Programa de Pós-Graduação em Biologia Animal, Universidade de Brasília, Brasília 70910-900, Brazil.; Programa de Pós-Graduação Profissional em Ensino de Biologia, Universidade de Brasília, Brasília 70910-900, Brazil.; Programa de Pós-Graduação Profissional em Ensino de Biologia (UnB), Universidade de Brasília, Brasília 70910-900, Brazil.; Programa de Pós-Graduação em Ciências Médicas, Universidade de Brasília, Brasília 70910-900, Brazil., Ortega-Paino E; Spanish National Cancer Research Center, CNIO Biobank, 28029 Madrid, Spain., Parellada M; Department of Child and Adolescent Psychiatry, Institute of Psychiatry and Mental Health, Hospital General Universitario Gregorio Marañón (IiSGM), 28007 Madrid, Spain.; Centre for Biomedical Network Research on Mental Health (CIBERSAM), Instituto de Salud Carlos III, 28029 Madrid, Spain.; School of Medicine, Universidad Complutense, 28040 Madrid, Spain., Paz-Artal E; Hospital Universitario 12 de Octubre, Department of Immunology, 28041 Madrid, Spain.; Instituto de Investigación Sanitaria Hospital 12 de Octubre (imas12), Transplant Immunology and Immunodeficiencies Group, 28041 Madrid, Spain.; Universidad Complutense de Madrid, Department of Immunology, Ophthalmology and ENT, 28040 Madrid, Spain., Santos NPC; Universidade Federal do Pará, Núcleo de Pesquisas em Oncologia, Belém, Pará 66075-110, Brazil., Pérez-Matute P; Infectious Diseases, Microbiota and Metabolism Unit, Center for Biomedical Research of La Rioja (CIBIR), 26006 Logroño, Spain., Perez P; Inditex, 15141 A Coruña, Spain., Pérez-Tomás ME; Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), 30120 Murcia, Spain., Perucho T; GENYCA, 28220 Madrid, Spain., Pinsach-Abuin ML; Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona (IDIBGI), 17190 Girona, Spain.; Centre for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Instituto de Salud Carlos III, 28029 Madrid, Spain., Pompa-Mera EN; Instituto Mexicano del Seguro Social (IMSS), Centro Médico Nacional Siglo XXI, Unidad de Investigación Médica en Enfermedades Infecciosas y Parasitarias, Mexico City 02990, Mexico., Porras-Hurtado GL; Clinica Comfamiliar Risaralda, 660003 Pereira, Colombia., Pujol A; Bellvitge Biomedical Research Institute (IDIBELL), Neurometabolic Diseases Laboratory, 08908 L'Hospitalet de Llobregat, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), 08010 Barcelona, Spain., Ramiro León S; Hospital Universitario de Getafe, Servicio de Genética, 28905 Madrid, Spain., Resino S; Unidad de Infección Viral e Inmunidad, Centro Nacional de Microbiología (CNM), Instituto de Salud Carlos III (ISCIII), 28220 Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, 28029 Madrid, Spain., Fernandes MR; Universidade Federal do Pará, Núcleo de Pesquisas em Oncologia, Belém, Pará 66075-110, Brazil.; Hospital Ophir Loyola, Departamento de Ensino e Pesquisa, Belém, Pará 66063-240, Brazil., Rodríguez-Ruiz E; Unidad de Cuidados Intensivos, Hospital Clínico Universitario de Santiago (CHUS), Sistema Galego de Saúde (SERGAS), 15706 Santiago de Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago (IDIS), 15706 Santiago de Compostela, Spain., Rodriguez-Artalejo F; Department of Preventive Medicine and Public Health, School of Medicine, Universidad Autónoma de Madrid, 28049 Madrid, Spain.; IdiPaz (Instituto de Investigación Sanitaria Hospital Universitario La Paz), 28046 Madrid, Spain.; Centre for Biomedical Network Research on Epidemiology and Public Health (CIBERESP), Instituto de Salud Carlos III, 28029 Madrid, Spain.; IMDEA-Food Institute, CEI UAM+CSIC, 28049 Madrid, Spain., Rodriguez-Garcia JA; Complejo Asistencial Universitario de León, 24071 León, Spain., Ruiz Cabello F; Hospital Universitario Virgen de las Nieves, Servicio de Análisis Clínicos e Inmunología, 18014 Granada, Spain.; Instituto de Investigación Biosanitaria de Granada (ibs GRANADA), 18012 Granada, Spain.; Universidad de Granada, Departamento Bioquímica, Biología Molecular e Inmunología III, 18071 Granada, Spain., Ruiz-Hornillos J; Hospital Infanta Elena, Allergy Unit, Valdemoro, 28342 Madrid, Spain.; Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Faculty of Medicine, Universidad Francisco de Vitoria, 28223 Madrid, Spain., Ryan P; Hospital Universitario Infanta Leonor, 28031 Madrid, Spain.; Complutense University of Madrid, 28040 Madrid, Spain.; Gregorio Marañón Health Research Institute (IiSGM), 28007 Madrid, Spain., Soria JM; Genomics of Complex Diseases Unit, Research Institute of Hospital de la Santa Creu i Sant Pau, IIB Sant Pau, 08041 Barcelona, Spain., Souto JC; Haemostasis and Thrombosis Unit, Hospital de la Santa Creu i Sant Pau, IIB Sant Pau, 08041 Barcelona, Spain., Tamayo E; Hospital Clinico Universitario de Valladolid, Servicio de Anestesiologia y Reanimación, 47003 Valladolid, Spain.; Universidad de Valladolid, Departamento de Cirugía, 47005 Valladolid, Spain., Tamayo-Velasco A; Hospital Clinico Universitario de Valladolid, Servicio de Hematologia y Hemoterapia, 47003 Valladolid, Spain., Taracido-Fernandez JC; Data Analysis Department, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain., Teper A; Hospital de Niños Ricardo Gutierrez, Buenos Aires C1425EFD CABA, Argentina., Torres-Tobar L; Fundación Universitaria de Ciencias de la Salud, 113827 Bogotá, Colombia., Urioste M; Spanish National Cancer Research Centre, Familial Cancer Clinical Unit, 28029 Madrid, Spain., Valencia-Ramos J; University Hospital of Burgos, 09006 Burgos, Spain., Yáñez Z; Universidad Simón Bolívar, Facultad de Ciencias de la Salud, 080002 Barranquilla, Colombia., Zarate R; Centro para el Desarrollo de la Investigación Científica, 1255 Asunción, Paraguay., Nakanishi T; Institute for Molecular Medicine Finland (FIMM), 00014 Univerisity of Helsinki, Finland.; McGill University, Department of Human Genetics, H3A 0G4 Montréal, Québec, Canada.; Lady Davis Institute, Jewish General Hospital, McGill University, H3T 1E2 Montréal, Québec, Canada.; Kyoto-McGill International Collaborative School in Genomic Medicine, Graduate School of Medicine, Kyoto University, 606-8501 Kyoto, Japan.; Research Fellow, Japan Society for the Promotion of Science, 102-0083 Tokyo, Japan., Pigazzini S; University of Milano-Bicocca, 20126 Milano, Italy.; Institute for Molecular Medicine Finland, Univerisity of Helsinki, 00014 Helsinki, Finland., Degenhardt F; Institute of Clinical Molecular Biology, Christian-Albrechts-University, 24118 Kiel, Germany.; University Hospital Schleswig-Holstein, Campus Kiel, 24118 Kiel, Germany., Butler-Laporte G; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, H3A 0G4 Montréal, Québec, Canada.; Lady Davis Institute, Jewish General Hospital, McGill University, H3T 1E2 Montréal, Québec, Canada., Maya-Miles D; Digestive Diseases Unit, Virgen del Rocio University Hospital, Institute of Biomedicine of Seville, University of Seville, 41103 Seville, Spain.; Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain., Bujanda L; Department of Liver and Gastrointestinal Diseases, Biodonostia Health Research Institute - Donostia University Hospital, University of the Basque Country (UPV/EHU), 20014 San Sebastian, Spain.; Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain., Bouysran Y; Centre de Génétique Humaine, Hôpital Erasme, Université Libre de Bruxelles, 1070 Brussels, Belgium., Palom A; Liver Unit, Department of Internal Medicine, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.; Universitat Autònoma de Barcelona, Departament de Medicina, Bellatera, 08193 Barcelona, Spain.; Vall d'Hebron Institut de Recerca (VHIR), Liver Diseases, 08035 Barcelona, Spain., Ellinghaus D; Novo Nordisk Foundation Center for Protein Research, Disease Systems Biology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2200 Copenhagen, Denmark.; Institute of Clinical Molecular Biology, Christian-Albrechts-University, 24118 Kiel, Germany., Martínez-Bueno M; GENYO, Centre for Genomics and Oncological Research: Pfizer, University of Granada, Andalusian Regional Government, 18016 Granada, Spain., Rolker S; Institute of Human Genetics, University Hospital Bonn, Medical Faculty University of Bonn, 53127 Bonn, Germany., Amitrano S; Genetica Medica, Azienda Ospedaliero-Universitaria Senese, 53100 Siena, Italy., Roade L; Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Liver Unit, Department of Internal Medicine, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.; Universitat Autònoma de Barcelona, Departament de Medicina, Bellatera, 08193 Barcelona, Spain., Fava F; University of Siena, Medical Genetics, 53100 Siena, Italy.; Azienda Ospedaliero-Universitaria Senese, Genetica Medica, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Spinner CD; Technical University of Munich, School of Medicine, University Hospital rechts der Isar, Department of Internal Medicine II, 80333 Munich, Germany., Prati D; Department of Transfusion Medicine and Hematology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Università degli Studi di Milano, 20126 Milano, Italy., Bernardo D; Mucosal Immunology Lab, Unidad de Excelencia del Instituto de Biomedicina y Genética Molecular (IBGM, Universidad de Valladolid-CSIC), 47005 Valladolid, Spain.; Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain., Garcia F; Hospital Universitario Clinico San Cecilio, 18016 Granada, Spain.; Instituto de Investigación Ibs, Granada, 18012 Granada, Spain., Darcis G; University of Liege. GIGA-Insitute, B- 4000 Liege, Belgium.; Liege University Hospital (CHU of Liege), B- 4000 Liege, Belgium., Fernández-Cadenas I; Biomedical Research Institute Sant Pau (IIB Sant Pau), Stroke Pharmacogenomics and Genetics Group, 08041 Barcelona, Spain., Holter JC; Oslo University Hospital, Department of Microbiology, 0424 Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, 0424 Oslo, Norway., Banales JM; Department of Liver and Gastrointestinal Diseases, Biodonostia Health Research Institute - Donostia University Hospital, University of the Basque Country (UPV/EHU), Ikerbasque, 20014 San Sebastian, Spain.; Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain., Frithiof R; Department of Surgical Sciences, Anaesthesiology and Intensive Care Medicine, Uppsala University, 751 05 Uppsala, Sweden., Duga S; Humanitas University, Department of Biomedical Sciences, 20089 Milan, Italy.; IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy., Asselta R; Humanitas University, Department of Biomedical Sciences, 20089 Milan, Italy.; IRCCS Humanitas Research Hospital, Rozzano, 20089 Milan, Italy., Pereira AC; Heart Institute (InCor)/University of Sao Paulo Medical School, 05508-070 Sao Paulo, Brazil., Romero-Gómez M; Digestive Diseases Unit, Virgen del Rocio University Hospital, Institute of Biomedicine of Seville, University of Seville, 41103 Seville, Spain.; Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain., Nafría-Jiménez B; Osakidetza Basque Health Service, Donostialdea Integrated Health Organisation, Clinical Biochemistry Department, 20006 San Sebastian, Spain., Hov JR; Norwegian PSC Research Center and Section of Gastroenterology, Dept Transplantation Medicine, Oslo University Hospital, 0424 Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, 0424 Oslo, Norway.; Research Institute of Internal Medicine, Oslo University Hospital, 0424 Oslo, Norway., Migeotte I; Fonds de la Recherche Scientifique (FNRS), B - 1000 Brussels.; Centre de Génétique Humaine, Hôpital Erasme, Université Libre de Bruxelles, 1070 Brussels, Belgium., Renieri A; University of Siena, Medical Genetics, 53100 Siena, Italy.; Azienda Ospedaliero-Universitaria Senese, Genetica Medica, 53100 Siena, Italy.; Med Biotech Hub and Competence Center, Department of Medical Biotechnologies, University of Siena, 53100 Siena, Italy., Planas AM; Institute for Biomedical Research of Barcelona (IIBB), National Spanish Research Council (CSIC), 08028 Barcelona, Spain.; Institut d'Investigacions Biomediques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain., Ludwig KU; Institute of Human Genetics, University Hospital Bonn, Medical Faculty University of Bonn, 53127 Bonn, Germany., Buti M; Centre for Biomedical Network Research on Hepatic and Digestive Diseases (CIBEREHD), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Liver Unit, Department of Internal Medicine, Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, 08035 Barcelona, Spain.; Universitat Autònoma de Barcelona, Departament de Medicina, Bellatera, 08193 Barcelona, Spain., Rahmouni S; University of Liege. GIGA-Insitute, B- 4000 Liege, Belgium., Alarcón-Riquelme ME; GENYO, Centre for Genomics and Oncological Research: Pfizer, University of Granada, Andalusian Regional Government, 18016 Granada, Spain.; Institute for Environmental Medicine, Karolinska Institutet, 171 65 Solna, Sweden., Schulte EC; Institute of Virology, Technical University Munich/Helmholtz Zentrum München, D-85764 Munich, Germany.; Institute of Psychiatric Phenomics and Genomics, University Hospital, LMU Munich University, 80539 Munich, Germany.; Department of Psychiatry, University Hospital, LMU Munich University, 80539 Munich, Germany., Franke A; Institute of Clinical Molecular Biology, Christian-Albrechts-University, 24118 Kiel, Germany.; University Hospital Schleswig-Holstein, Campus Kiel, 24118 Kiel, Germany., Karlsen TH; Norwegian PSC Research Center and Section of Gastroenterology, Dept Transplantation Medicine, Oslo University Hospital, 0424 Oslo, Norway.; Institute of Clinical Medicine, University of Oslo, 0424 Oslo, Norway.; Research Institute of Internal Medicine, Oslo University Hospital, 0318 Oslo, Norway., Valenti L; Università degli Studi di Milano, Department of Pathopgysiology and Transplantation, 20126 Milano, Italy.; Department of Transfusion Medicine and Hematology, Precision Medicine, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milano, Italy., Zeberg H; Karolinska Institutet, Department of Neuroscience, 171 77 Stockholm, Sweden.; Max-Planck Institute for Evolutionary Anthropology, 04103 Leipzig, Germany., Richards B; Department of Human Genetics, Epidemiology, Biostatistics and Occupational Health, McGill University, H3A 0G4 Montréal, Québec, Canada.; Lady Davis Institute, Jewish General Hospital, McGill University, H3T 1E2 Montréal, Québec, Canada.; King's College London, Department of Twin Research, London, WC2R 2LS, United Kingdom., Ganna A; Institute for Molecular Medicine Finland, Univerisity of Helsinki, 00014 Helsinki, Finland.; Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA., Boada M; Research Center and Memory clinic, ACE Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08028 Barcelona, Spain.; Centre for Biomedical Network Research on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, 28029 Madrid, Spain., de Rojas I; Research Center and Memory clinic, ACE Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08028 Barcelona, Spain.; Centre for Biomedical Network Research on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, 28029 Madrid, Spain., Ruiz A; Research Center and Memory clinic, ACE Alzheimer Center Barcelona, Universitat Internacional de Catalunya, 08028 Barcelona, Spain.; Centre for Biomedical Network Research on Neurodegenerative Diseases (CIBERNED), Instituto de Salud Carlos III, 28029 Madrid, Spain., Sánchez-Juan P; CIEN Foundation/Queen Sofia Foundation Alzheimer Center, 28031 Madrid, Spain., Real LM; Hospital Universitario de Valme, Unidad Clínica de Enfermedades Infecciosas y Microbiología, 41014 Sevilla, Spain., Guillen-Navarro E; Instituto Murciano de Investigación Biosanitaria (IMIB-Arrixaca), 30120 Murcia, Spain.; Sección Genética Médica - Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Servicio Murciano de Salud, 30120 Murcia, Spain.; Departamento Cirugía, Pediatría, Obstetricia y Ginecología, Facultad de Medicina, Universidad de Murcia (UMU), 30100 Murcia, Spain.; Grupo Clínico Vinculado, Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), 28040 Madrid, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain., González-Neira A; Spanish National Cancer Research Centre, Human Genotyping-CEGEN Unit, 28029 Madrid, Spain., Riancho JA; IDIVAL, 39008 Cantabria, Spain.; Universidad de Cantabria, 39008 Cantabria, Spain.; Hospital U M Valdecilla, 39008 Cantabria, Spain., Rojas-Martinez A; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, 64718 Monterrey, Mexico., Flores C; Genomics Division, Instituto Tecnológico y de Energías Renovables, 38600 Santa Cruz de Tenerife, Spain.; Research Unit, Hospital Universitario N.S. de Candelaria, 38010 Santa Cruz de Tenerife, Spain.; Centre for Biomedical Network Research on Respiratory Diseases (CIBERES), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Facultad de Ciencias de la Salud, Universidad Fernando Pessoa Canarias, 35450 Las Palmas de Gran Canaria, Spain., Lapunzina P; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz-IDIPAZ, 28046 Madrid, Spain.; ERN-ITHACA-European Reference Network., Carracedo A; Centro Nacional de Genotipado (CEGEN), Universidade de Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.; Instituto de Investigación Sanitaria de Santiago (IDIS), 15706 Santiago de Compostela, Spain.; Centro Singular de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), Universidade de Santiago de Compostela, 15782 Santiago de Compostela, Spain.; Fundación Pública Galega de Medicina Xenómica, Sistema Galego de Saúde (SERGAS), 15706 Santiago de Compostela, Spain.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2022 Nov 10; Vol. 31 (22), pp. 3789-3806.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Autor:
Yverneau M; Department of Child and Adolescent Medicine, Rennes Hospital, Rennes, France., Leroux S; Department of Child and Adolescent Medicine, Rennes Hospital, Rennes, France., Imbard A; Biochemistry Laboratory, Robert Debré Hospital, APHP, Paris, France.; Department of Pediatrics, Reference Center for Inborn Error of Metabolism, Necker and Robert-Debré Hospital, APHP, Université Paris Cité, Paris, France.; LYPSIS, Université Paris-Saclay, Châtenay-Malabry, France., Gleich F; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Arion A; Department of Pediatrics, Caen Hospital, Caen, France., Moreau C; Biochemistry Laboratory, Rennes Hospital, Rennes, France., Nassogne MC; Pediatric Neurology Unit, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium., Szymanowski M; Department of Pediatrics, Estaing Hospital, Clermont-Ferrand, France., Tardieu M; Department of Pediatrics, Tours Hospital, Tours, France., Touati G; Department of Pediatrics, Reference Center for Inborn Error of Metabolism, Toulouse Hospital, Toulouse, France., Bueno M; Hospital Universitario Virgen del Rocío, Sevilla, Spain., Chapman KA; Section of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia, USA., Chien YH; Department of Pediatrics, National Taiwan University Hospital, College of Medicine, National Taiwan University, Taipei, Taiwan., Huemer M; Division of Metabolism and Children's Research Center, University Children's Hospital, Zürich, Switzerland.; Department of Paediatrics, Landeskrankenhaus Bregenz, Bregenz, Austria., Ješina P; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, General University Hospital, Charles University, Prague, Czech Republic., Janssen MCH; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands., Kölker S; Division of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Kožich V; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, General University Hospital, Charles University, Prague, Czech Republic., Lavigne C; Department of Internal Medicine, Angers University Hospital, Angers, France., Lund AM; Departments of Paediatrics and Clinical Genetics, Centre for Inherited Metabolic Diseases, Copenhagen University Hospital, Copenhagen, Denmark., Mochel F; Department of Genetics, AP-HP, Pitié-Salpêtrière University Hospital, Paris, France., Morris A; Willink Metabolic Unit, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester.; Alder Hey Children's Hospital, Liverpool, UK., Pons MR; H.U. Ntra. Sra. de la Candelaria, Santa Cruz de Tenerife, Spain., Porras-Hurtado GL; Clínica Comfamiliar, Pereira, Colombia., Benoist JF; Biochemistry Laboratory, Robert Debré Hospital, APHP, Paris, France.; Department of Pediatrics, Reference Center for Inborn Error of Metabolism, Necker and Robert-Debré Hospital, APHP, Université Paris Cité, Paris, France.; LYPSIS, Université Paris-Saclay, Châtenay-Malabry, France., Damaj L; Department of Pediatrics, Competence Center of Inherited Metabolic Disorders, Rennes Hospital, Rennes, France., Schiff M; Department of Pediatrics, Reference Center for Inborn Error of Metabolism, Necker and Robert-Debré Hospital, APHP, Université Paris Cité, Paris, France.; Inserm UMR_S1163, Institut Imagine, Paris, France.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Jul; Vol. 45 (4), pp. 848-861. Date of Electronic Publication: 2022 May 09.
Autor:
Aranda CS; Department of Pediatrics, Escola Paulista de Medicina-Federal University of São Paulo (EPM-UNIFESP), SP, Brazil and Reference Center on Inborn Errors of Metabolism (CREIM) of the Department of Pediatrics, EPM-UNIFESP. Electronic address: carolaaranda@yahoo.com.br., Aun MV; Albert Einstein Israeli Faculty of Health Sciences, Brazil and Department of Internal Medicine, Faculty of Medicine, University of São Paulo, SP, Brazil., Souza CFM; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, RS, Brazil., Pinto LLC; Medical Genetics Service, Hospital Infantil Joana de Gusmão, SC, Brazil., Porras-Hurtado GL; Reference Center of Rare Diseases - Comfamiliar Risaralda, Pereira, Colombia., Salgado OFS; Alergo IPS Pereira, Pereira, Colombia., Arantes RR; Hospital das Clínicas of the Federal University of Minas Gerais, MG, Brazil., Martins AM; Department of Pediatrics, EPM-UNIFESP, SP, Brazil and CREIM, Department of Pediatricians, EPM-UNIFESP., Solé D; Department of Pediatrics, EPM-UNIFESP, SP, Brazil.
Publikováno v:
The journal of allergy and clinical immunology. In practice [J Allergy Clin Immunol Pract] 2022 Mar; Vol. 10 (3), pp. 870-873.e1. Date of Electronic Publication: 2021 Nov 04.