Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

Autor: Alejandro Cruz-Utrilla, Natalia Gallego-Zazo, Jair Antonio Tenorio-Castaño, Inmaculada Guillén, Alba Torrent-Vernetta, Amparo Moya-Bonora, Carlos Labrandero, María Elvira Garrido-Lestache Rodríguez-Monte, Alejandro Rodríguez-Ogando, María del Mar Rodríguez Vázquez Del Rey, Juana Espín, Beatriz Plata-Izquierdo, María Álvarez-Fuente, Antonio Moreno-Galdó, Pilar Escribano-Subias, María Jesús Del Cerro Marín

Publikováno v: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
International Journal of Molecular Sciences; Volume 23; Issue 18; Pages: 10433
Scientia

Genetics; Heritable pulmonary arterial hypertension; Pediatric pulmonary hypertension Genética; Hipertensión arterial pulmonar hereditaria; Hipertensión pulmonar pediátrica Genètica; Hipertensió arterial pulmonar hereditària; Hipertensió pulm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::613716f6ee6d3ab322b0a53bad57ada4
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=17137

NGS Custom Panel Implementation in Patients with Non-Syndromic Autism Spectrum Disorders in the Clinical Routine of a Tertiary Hospital.

Autor: Sandoval-Talamantes AK; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain., Tenorio-Castaño JA; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain.; ITHACA, European Research Network, La Paz University Hospital, 28046 Madrid, Spain.; CIBERER (Network for Biomedical Research on Rare Diseases), Carlos III Health Institute (ISCIII), 28046 Madrid, Spain., Santos-Simarro F; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain.; ITHACA, European Research Network, La Paz University Hospital, 28046 Madrid, Spain.; CIBERER (Network for Biomedical Research on Rare Diseases), Carlos III Health Institute (ISCIII), 28046 Madrid, Spain., Adán C; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain., Fernández-Elvira M; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain., García-Fernández L; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain., Muñoz Y; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain., Lapunzina P; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain.; ITHACA, European Research Network, La Paz University Hospital, 28046 Madrid, Spain.; CIBERER (Network for Biomedical Research on Rare Diseases), Carlos III Health Institute (ISCIII), 28046 Madrid, Spain., Nevado J; INGEMM (Institute of Medical and Molecular Genetics), La Paz University Hospital, IdiPAZ, 28046 Madrid, Spain.; ITHACA, European Research Network, La Paz University Hospital, 28046 Madrid, Spain.; CIBERER (Network for Biomedical Research on Rare Diseases), Carlos III Health Institute (ISCIII), 28046 Madrid, Spain.

Publikováno v: Genes [Genes (Basel)] 2023 Nov 17; Vol. 14 (11). Date of Electronic Publication: 2023 Nov 17.

Usefulness of genetics for clinical reclassification and refinement of prognostic stratification in pulmonary arterial hypertension.

Autor: Cruz-Utrilla A; Unidad de Hipertensión Pulmonar, Departamento de Cardiología, Hospital Universitario 12 de Octubre, Madrid, Spain; European Reference Network on rare respiratory diseases (ERN-LUNG), Belgium., Gallego-Zazo N; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Spain; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ITHACA), Belgium., Pérez-Olivares C; Departamento de Cardiología, Hospital del Henares, Coslada, Madrid, Spain., Hernández-González I; Cardiología Pediátrica, Hospital Universitario Ramón y Cajal, Instituto Ramón y Cajal de Investigación Sanitaria (IRYCIS), Madrid, Spain., Bedate P; Departamento de Medicina Pulmonar, Hospital Universitario Central de Asturias, Oviedo, Asturias, Spain., Martínez Meñaca A; European Reference Network on rare respiratory diseases (ERN-LUNG), Belgium; Departamento de Medicina Pulmonar, Hospital Universitario Marqués de Valdecilla, Santander, Spain., López Meseguer M; European Reference Network on rare respiratory diseases (ERN-LUNG), Belgium; Departamento de Medicina Pulmonar, Hospital Universitario Vall d'Hebron, Barcelona, Spain., Lapunzina P; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Spain; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ITHACA), Belgium., Pérez Núñez M; Departamento de Radiología, Unidad de Hipertensión Pulmonar, Hospital Universitario 12 de Octubre, Madrid, Spain., Ochoa Parra N; Unidad de Hipertensión Pulmonar, Departamento de Cardiología, Hospital Universitario 12 de Octubre, Madrid, Spain; European Reference Network on rare respiratory diseases (ERN-LUNG), Belgium., Valverde D; CINBIO, Instituto de Investigación Sanitaria Galicia Sur, Área de Enfermedades Raras y Medicina Pediátrica, Universidad de Vigo, Vigo, Spain., Tenorio-Castaño JA; Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Spain; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ITHACA), Belgium., Escribano-Subias P; Unidad de Hipertensión Pulmonar, Departamento de Cardiología, Hospital Universitario 12 de Octubre, Madrid, Spain; European Reference Network on rare respiratory diseases (ERN-LUNG), Belgium; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain; Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain. Electronic address: pilar.escribano.subias@gmail.com.

Publikováno v: Revista espanola de cardiologia (English ed.) [Rev Esp Cardiol (Engl Ed)] 2023 Jun; Vol. 76 (6), pp. 460-467. Date of Electronic Publication: 2022 Nov 18.

Novel genes and sex differences in COVID-19 severity.

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.

Tenorio syndrome: Description of 14 novel cases and review of the clinical and molecular features.

Autor: Tenorio-Castaño JA; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium., Arias P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Fernández-Jaén A; Hospital Universitario Quirónsalud Madrid, Universidad Europea de Madrid, Spain., Lay-Son G; Unidad de Genética, División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de, Chile., Bueno-Lozano G; Unit of Clinical Genetics, Service of Paediatrics, School of Medicine, University Hospital 'Lozano Blesa, University of Zaragoza, CIBERER-GCV02 and ISS-Aragón, Zaragoza, Spain., Bayat A; Department of Pediatrics, Hvidovre Hospital, University of Copenhagen, Denmark., Faivre L; Ithaca, European Reference Network, Brussels, Belgium.; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Hôpital d'Enfants, CHU Dijon, Dijon, France.; UMR1231 GAD, Inserm - Université Bourgogne-Franche Comté, Dijon, France., Gallego N; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium., Ramos S; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Butler KM; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA., Morel C; University Health Network, Fred A. Litwin Family Centre in Genetic Medicine, Toronto, Ontario, Canada.; Department of Medicine, University of Toronto, Toronto, Ontario, Canada., Hadjiyannakis S; Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, Ontario, Canada., Lespinasse J; Service de Cytogenetique, Centre Hospitalier de Chambéry, Chambéry, France., Tran-Mau-Them F; UF6254 Innovation en Diagnostic Genomique des Maladies Rares Bat, Pôle de Biologie, CHU, Dijon, France., Santos-Simarro F; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium.; Clinical Genetics section, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Pinson L; Départment de Génétique Médicale, Maladies Rares et Médecine Personnalisée, CHU de Montpellier, Montpellier, France., Martínez-Monseny AF; Clinical Genetics section, Department of Genetic and Molecular Medicine and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain.; Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain., O'Callaghan Cord MDM; Clinical Genetics section, Department of Genetic and Molecular Medicine and Pediatric Institute of Rare Diseases (IPER), Hospital Sant Joan de Déu, Barcelona, Spain., Álvarez S; NIMGENETICS, Calle de Anabel Segura, Madrid, Spain., Stolerman ES; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA., Washington C; Cytogenetics Laboratory, Greenwood Genetic Center, Greenwood, South Carolina, USA., Ramos FJ; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Unit of Clinical Genetics, Service of Paediatrics, School of Medicine, University Hospital 'Lozano Blesa, University of Zaragoza, CIBERER-GCV02 and ISS-Aragón, Zaragoza, Spain.; Unit of Pediatric Endocrinology, Service of Paediatrics, University Hospital Lozano Blesa, Zaragoza, Spain., The S O G R I Consortium; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain., Lapunzina P; CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Overgrowth Syndromes Laboratory, INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ, Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM), Madrid, Spain.; Ithaca, European Reference Network, Brussels, Belgium.

Publikováno v: Clinical genetics [Clin Genet] 2021 Oct; Vol. 100 (4), pp. 405-411. Date of Electronic Publication: 2021 Jul 16.