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1.
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11 p, 673.6 KB |
DLST mutations in pheochromocytoma and paraganglioma cause proteome hyposuccinylation and metabolic remodeling
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Mellid, Sara (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
García, Fernando (Proteomics Unit. Spanish National Cancer Research Centre) ;
Leandro-García, Luís Javier (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
Díaz-Talavera, Alberto (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Martínez-Montes, Ángel Mario (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
Gil, Eduardo (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
Calsina, Bruna (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
Monteagudo, María (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
Letón, Rocío (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
Roldán-Romero, Juan María (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
Santos, María (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
Lanillos, Javier (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
Valdivia, Carlos (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
Martínez-Puente, Natalia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
de Nicolás-Hernández, Javier (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
Jiménez,Scherezade (Monoclonal Antibodies Core Unit. Spanish National Cancer Research Centre) ;
Pérez-Martínez, Manuel (Confocal Microscopy Core Unit. Spanish National Cancer Research Centre) ;
Honrado, Emiliano (Anatomical Pathology Service. Hospital of León) ;
Coloma, Javier (Structural Biology Programme. Spanish National Cancer Research Centre) ;
Cerezo, Ana (CNIO-Lilly Cell Signalling and Immunometabolism Section. Spanish National Cancer Research Centre) ;
Santiveri, Clara María (Spectroscopy and Nuclear Magnetic Resonance Unit. Spanish National Cancer Research Centre) ;
Esteller, M (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Campos-Olivas, Ramón (Spectroscopy and Nuclear Magnetic Resonance Unit. Spanish National Cancer Research Centre) ;
Caleiras, Eduardo (Histopathology Core Unit. Spanish National Cancer Research Centre) ;
Montero-Conde, Cristina (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
Rodríguez-Antona, Cristina (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre) ;
Muñoz, Javier (Ikerbasque. Basque Foundation for Science) ;
Robledo, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Cascón, Alberto (Centro de Investigación Biomédica en Red de Enfermedades Raras)
2023 -  10.1002/cac2.12427
Cancer Communications, Vol. 43 Núm. 7 (july 2023) , p. 838-843
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2.
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10 p, 7.8 MB |
Reusable Colorimetric Biosensors on Sustainable Silk-Based Platforms
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Márquez, Augusto (Instituto de Microelectrónica de Barcelona) ;
Santiago, Sara (Universitat Autònoma de Barcelona. Departament de Química) ;
Santos, Molíria V. (University of São Paulo. São Carlos Institute of Physics) ;
Aznar-Cervantes, Salvador (Instituto Murciano de Investigación y Desarrollo Agrario y Ambiental. Departamento de Biotecnología) ;
Domínguez, Carlos (Instituto de Microelectrónica de Barcelona) ;
Omenetto, Fiorenzo (Tufts University) ;
Guirado López, Gonzalo (Universitat Autònoma de Barcelona. Departament de Química) ;
Muñoz Berbel, Xavier (Instituto de Salud Carlos III)
In biosensor development, silk fibroin is advantageous for providing transparent, flexible, chemically/mechanically stable, biocompatible, and sustainable substrates, where the biorecognition element remains functional for long time periods. [...]
2023 - 10.1021/acsabm.3c00872
ACS applied bio materials, Vol. 7, Issue 2 (February 2023) , p. 853-862
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3.
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22 p, 904.1 KB |
Binding of VIVO2+, VIVOL, VIVOL2 and VVO2L Moieties to Proteins : X-ray/Theoretical Characterization and Biological Implications
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Santos, Marino F.A. (Universidade NOVA de Lisboa) ;
Sciortino, Giuseppe (Institut d'Investigacions Químiques de Catalunya) ;
Correia, Isabel (Universidade de Lisboa) ;
Fernandes, Andreia C.P. (Universidade NOVA de Lisboa) ;
Santos-Silva, Teresa (Universidade NOVA de Lisboa) ;
Pisanu, Federico (Università di Sassari) ;
Garribba, Eugenio (Università di Sassari. Dipartimento di Medicina, Chirurgia e Farmacia) ;
Costa Pessoa, João (Universidade de Lisboa)
Vanadium compounds have frequently been proposed as therapeutics, but their application has been hampered by the lack of information on the different V-containing species that may form and how these interact with blood and cell proteins, and with enzymes. [...]
2022 - 10.1002/chem.202200105
Chemistry, Vol. 28, Issue 40 (July 2022) , art. e202200105
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4.
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12 p, 796.6 KB |
Mitochondrial DNA control region typing from highly degraded skeletal remains by single-multiplex next-generation sequencing
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Vinueza-Espinosa, Diana C. (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Cuesta-Aguirre, Daniel R. (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Malgosa Morera, Assumpció (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia) ;
Pereira dos Santos, Cristina Maria (Universitat Autònoma de Barcelona. Departament de Biologia Animal, de Biologia Vegetal i d'Ecologia)
Poor nuclear DNA preservation from highly degraded skeletal remains is the most limiting factor for the genetic identification of individuals. Mitochondrial DNA (mtDNA) typing, and especially of the control region (CR), using next-generation sequencing (NGS), enables retrieval of valuable genetic information in forensic contexts where highly degraded human skeletal remains are the only source of genetic material. [...]
2023 - 10.1002/elps.202200052
Electrophoresis, Vol. 44, Issue 17-18 (September 2023) , p. 1423-1434
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5.
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9 p, 1.2 MB |
X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients
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Xiol, Clara (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Vidal, Silvia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Pascual-Alonso, Ainhoa (Hospital Sant Joan de Déu (Manresa)) ;
Blasco-Pérez, Laura (Hospital Sant Joan de Déu (Manresa)) ;
Brandi Tarrau, Núria Mercedes (Universitat de Barcelona) ;
Pacheco, Paola (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Gerotina, Edgar (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
O'Callaghan, Maria del Mar (Hospital Sant Joan de Déu (Manresa)) ;
Pineda, Mercè (Institut de Recerca Sant Joan de Déu) ;
Armstrong, Judith (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Aguirre, Francisco Javier (Hospital Torrecárdenas) ;
Aleu, Montserrat (Hospital General Universitario de Valencia) ;
Alonso, Xènia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Alsius, Mercè (Hospital Universitari de Girona Doctor Josep Trueta) ;
Amorós, Maria Inmaculada (Hospital Punta Europa) ;
Antiñolo Gil, Guillermo (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Aquino, Lourdes (Hospital de Mataró. Consorci Sanitari del Maresme) ;
Arellano, Carmen (Consorci Sanitari) ;
Arriola, Gema (Hospital Universitario de Guadalajara) ;
Arteaga, Rosa (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Baena Díez, Neus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Barcos, Montserrat (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ;
Belzunces, Nuria (Balagué Center) ;
Boronat, Susanna (Hospital Universitari Vall d'Hebron) ;
Camacho, Tomás (Lema & Bandin Laboratorios) ;
Campistol, Jaume (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
del Campo Casanelles, Miguel (Hospital Universitari Vall d'Hebron) ;
Campo, Andrea (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Cancho, Ramon (Hospital Universitario Río Hortega (Valladolid)) ;
Candau, Ramon (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Canós, Ignacio (Hospital Universitari Doctor Peset (València)) ;
Carrascosa, María del Carmen (Complejo Hospitalario Universitario de Albacete) ;
Carratalá-Marco, Francisco (Hospital Universitari San Juan) ;
Casano, Jovaní (Consorci Hospitalari Provincial de Castelló) ;
Castro, Pedro (Hospital General Universitario Gregorio Marañón) ;
Cobo, Ana (Hospital de Donostia (Sant Sebastià, País Basc)) ;
Colomer, Jaime (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Conejo, David (Complejo asistencial) ;
Corrales, Maria José (Hospital General Mancha Centro) ;
Cortés, Rocío (Hospital San Borja Arriaran) ;
Cruz, Gabriel (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Csányi, Gábor (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Santos, María Teresa de (Hospital de Fuenlabrada) ;
Toledo, María de (Hospital Universitario Severo Ochoa) ;
Del Toro, Mireia (Hospital Universitari Vall d'Hebron) ;
Domingo, Rosario (Hospital Infantil de La Arrixaca) ;
Duat, Anna (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Duque, Rosario (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ;
Esparza, Ana María (Consorci Hospitalari Provincial de Castelló) ;
Fernández, Rosa (Hospital Universitario de Getafe (Madrid)) ;
Fons, Maria Carme (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Fontalba, Ana (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Galán, Enrique (Hospital Materno-Infantil de Badajoz) ;
Gallano, Pia (Institut d'Investigació Bomèdica Sant Pau) ;
Gamundi, María José (Consorci Sanitari) ;
García, Pedro Luis (Hospital Virgen de la Salud (Toledo)) ;
García, María del Mar (Hospital Cormarcal de Figueres) ;
García-Barcina, María (Hospital de Basurto (Bilbao, Biscaia)) ;
Garcia-Catalan, María Jesús (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
García-Cazorla, Angels (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
García-Miñaur, Sixto (Hospital Universitario La Paz (Madrid)) ;
Garcia-Peñas, Juan Jose (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
García-Silva, María Teresa (Hospital 12 de Octubre (Madrid)) ;
Gassio, Rosa (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Geán, Esther (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Gil, Belén (Hospital Universitario de Getafe (Madrid)) ;
Gökben, Sarenur (Ege Ünŭversŭtesŭ Tip Fakültesŭ Pedŭatrŭ AD) ;
Gonzalez, Luis (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Gonzalez, Veronica (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Gonzalez, Julieta (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
González, Gloria (Balagué Center) ;
Guillén, Encarna (Hospital Infantil de La Arrixaca) ;
Guitart, Miriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Guitet, Montserrat (Hospital General de Granollers) ;
Gutierrez, Juan Manuel (Hospital Clínico Universitario de Valladolid) ;
Gutiérrez, Eva (Hospital de Fuenlabrada) ;
Herranz, Jose Luís (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Iglesias, Gemma (Hospital Virgen de La Luz (Cuenca)) ;
Karacic, Iva (Clinical Hospital Center Zagreb) ;
Lahoz, Carlos H. (Hospital Central Asturias) ;
Lao, José Ignacio (Laboratorio Echevarne) ;
Lapunzina, Pablo (Hospital Universitario La Paz (Madrid)) ;
Lautre-Ecenarro, María Jesús (Hospital Clínico San Carlos (Madrid)) ;
Lluch, María Dolores (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
López, Laura (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
López-Ariztegui, Asunción (Hospital de Cruces (Barakaldo, Biscaia)) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron) ;
Marín, Rosario (Hospital Universitario Puerta del Mar (Cadis, Andalusia)) ;
Marquez, Charles M. Lourenço (University of São Paulo) ;
Martín, Elena (Hospital 12 de Octubre (Madrid)) ;
Martínez, Beatriz (Hospital Universitario de Getafe (Madrid)) ;
Martínez-Salcedo, Eduardo (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Mas, María José (Hospital Universitari Joan XXIII de Tarragona) ;
Mateo, Gonzalo (Hospital Universitario de Guadalajara) ;
Mendez, Pilar (Hospital Materno-Infantil de Badajoz) ;
Jimenez, Amparo Morant (Centro privado) ;
Moreno, Sira (Hospital Virgen del Camino (Pamplona)) ;
Mulas, Fernando (Instituto Valenciano de Neurociencias) ;
Narbona, Juan (Clínica Universidad de Navarra) ;
Nascimento, Andrés (Hospital Sant Joan de Déu (Manresa)) ;
Nieto, Manuel (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Nunes, Tania Fabiola (Hospital Sant Joan de Déu (Manresa)) ;
Núñez, Núria (Hospital Universitari Vall d'Hebron) ;
Obón, María (Hospital Universitari de Girona Doctor Josep Trueta) ;
Onsurbe, Ignacio (Complejo Hospitalario Universitario de Albacete) ;
Ortez González, Carlos Ignacio (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Orts, Emilio (Hospital General Mancha Centro) ;
Martinez, Francisco (Hospital Universitari Doctor Peset (València)) ;
Parrilla, Rafael (Complejo Hospitalario de Jaén) ;
Pascual Pascual, Samuel Ignacio (Hospital Universitario La Paz (Madrid)) ;
Patiño, Ana (Complejo Hospitalario de Navarra) ;
Pérez-Poyato, Maria (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Pérez-Dueñas, Belén (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Póo, Pilar (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Puche, Eliodoro (Hospital Infantil de La Arrixaca) ;
Ramos, Feliciano (Hospital Clínico Universitario "Lozano Blesa" de Zaragoza) ;
Raspall-Chaure, Miquel (Hospital Universitari Vall d'Hebron) ;
Roche, Ana (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Roldan, Susana (Hospital Universitario Virgen de las Nieves (Granada)) ;
Rosell Andreo, Jordi (Hospital Universitari Son Dureta (Palma de Mallorca, Balears)) ;
Ruiz, Cesar (Hospital Costa del Sol (Marbella)) ;
Ruiz-Falcó, María Luz (Hospital Infantil Universitario Niño Jesús (Madrid)) ;
Russi Delfraro, María Eugenia (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Samarra, Jordi (Hospital General de Vic) ;
Antonio, Victoria San (Hospital Clínico San Carlos (Madrid)) ;
Sanchez, Ivan (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Sanmartin, Xavier (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Sans, Ana (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Santacana, Alfredo (Complejo Hospitalario Universitario Insular) ;
Scholl-Bürgi, Sabine (Medizinische Universität Innsbruck) ;
Serrano, Nuria (Althaia) ;
Serrano, Mercedes (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Martin-Tamayo, Pilar (Complejo Hospitalario Universitario de Albacete) ;
Tendero, Adrián (Hospital Universitario La Paz (Madrid)) ;
Torrents, Jaime (Reference Laboratory) ;
Tortosa, Diego (Hospital Infantil de La Arrixaca) ;
Triviño, Emma (Catlab) ;
Troncoso, Ledia (Hospital San Borja Arriaran) ;
Turon-Viñas, E (Institut d'Investigació Biomèdica Sant Pau) ;
Vázquez, Pilar (Hospital General Universitario Gregorio Marañón) ;
Vázquez, Carlos (Complejo Hospitalario Universitario Insular) ;
Velázquez, Ramón (Hospital Universitario La Paz (Madrid)) ;
Ventura, Clara (Hospital Universitari Vall d'Hebron) ;
Verdú, Alfonso (Hospital Virgen de la Salud (Toledo)) ;
Vernet, Anna (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Vila, M. Tomás (Hospital Francesc De Borja) ;
Villar, Cristina (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Universitat Autònoma de Barcelona
Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. [...]
2019 - 10.1038/s41598-019-48385-w
Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 11983
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6.
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18 p, 1.5 MB |
Scenarios for population health inequalities in 2030 in Europe : The EURO-HEALTHY project experience
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Alvarenga, Antonio (Universidade de Lisboa) ;
Bana E Costa, Carlos A. (Universidade de Lisboa) ;
Borrell i Thió, Carme (Institut d'Investigació Biomèdica Sant Pau) ;
Ferreira, Pedro Lopes (University of Coimbra) ;
Freitas, Ângela (University of Coimbra) ;
Freitas, Liliana (Universidade de Lisboa) ;
Oliveira, Mónica D. (Universidade de Lisboa) ;
Rodrigues, Teresa C. (Universidade de Lisboa) ;
Santana, Paula (University of Coimbra) ;
Lopes Santos, Maria (ALVA Research and Consulting) ;
Vieira, Ana C.L. (Universidade de Lisboa) ;
Universitat Autònoma de Barcelona
Health inequalities have been consistently reported across and within European countries and continue to pose major challenges to policy-making. The development of scenarios regarding what could affect population health (PH) inequalities across Europe in the future is considered critical. [...]
2019 - 10.1186/s12939-019-1000-8
International Journal for Equity in Health, Vol. 18 Núm. 1 (25 2019) , p. 100
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7.
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15 p, 1.7 MB |
Identification of regulatory variants associated with genetic susceptibility to meningococcal disease
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Borghini, Lisa (Genome Institute of Singapore) ;
Png, Eileen (Genome Institute of Singapore) ;
Binder, Alexander (Medical University of Graz) ;
Wright, Victoria (Imperial College London) ;
Pinnock, Ellie (University of Warwick) ;
de Groot, Ronald (Radboud University Medical Center) ;
Hazelzet, Jan (University Medical Center) ;
Emonts, Marieke (Great North Children's Hospital) ;
van der Flier, Michiel (Radboud University Medical Center) ;
Schlapbach, Luregn J. (University of Bern) ;
Anderson, Suzanne (Medical Research Council Unit Gambia) ;
Secka, Fatou (Medical Research Council Unit Gambia) ;
Salas, Antonio (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ;
Fink, Colin (University of Warwick) ;
Carrol, Enitan D. (University of Liverpool) ;
Pollard, Andrew J. (University of Oxford and the NIHR Oxford Biomedical Research Centre) ;
Coin, Lachlan J. (The University of Queensland) ;
Kuijpers, Taco W. (Emma Children's Hospital Academic Medical Center) ;
Martinon-Torres, Federico (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Zenz, Werner (Medical University of Graz) ;
Levin, Michael (Imperial College London) ;
Hibberd, Martin L. (London School of Hygiene & Tropical Medicine) ;
Davila, Sonia (Duke-NUS Medical School) ;
Gormley, Stuart (Imperial College London) ;
Hamilton, Shea (Imperial College London) ;
Herberg, Jethro (Imperial College London) ;
Hourmat, Bernardo (Imperial College London) ;
Hoggart, Clive (Imperial College London) ;
Kaforou, Myrsini (Imperial College London) ;
Sancho-Shimizu, Vanessa (Imperial College London) ;
Abdulla, Amina (Imperial College London) ;
Agapow, Paul (Imperial College London) ;
Bartlett, Maeve (Imperial College London) ;
Bellos, Evangelos (Imperial College London) ;
Eleftherohorinou, Hariklia (Imperial College London) ;
Galassini, Rachel (Imperial College London) ;
Inwald, David (Imperial College London) ;
Mashbat, Meg (Imperial College London) ;
Menikou, Stefanie (Imperial College London) ;
Mustafa, Sobia (Imperial College London) ;
Nadel, Simon (Imperial College London) ;
Rahman, Rahmeen (Imperial College London) ;
Thakker, Clare (Imperial College London) ;
Bokhandi, S. (Poole Hospital NHS Foundation Trust) ;
Power, Sue (Poole Hospital NHS Foundation Trust) ;
Barham, Heather (Poole Hospital NHS Foundation Trust) ;
Pathan, N. (Cambridge University Hospitals NHS Trust) ;
Ridout, Jenna (Cambridge University Hospitals NHS Trust) ;
White, Deborah (Cambridge University Hospitals NHS Trust) ;
Thurston, Sarah (Cambridge University Hospitals NHS Trust) ;
Faust, S. (University Hospital Southampton) ;
Patel, S. (University Hospital Southampton) ;
McCorkell, Jenni (University Hospital Southampton) ;
Davies, P. (Nottingham University Hospital NHS Trust) ;
Cratev, Lindsey (Nottingham University Hospital NHS Trust) ;
Navarra, Helen (Nottingham University Hospital NHS Trust) ;
Carter, Stephanie (Nottingham University Hospital NHS Trust) ;
Ramaiah, R. (University Hospitals of Leicester NHS Trust) ;
Patel, Rekha (University Hospitals of Leicester NHS Trust) ;
Tuffrey, Catherine (Portsmouth Hospitals NHS Trust) ;
Gribbin, Andrew (Portsmouth Hospitals NHS Trust) ;
McCready, Sharon (Portsmouth Hospitals NHS Trust) ;
Peters, Mark (Portsmouth Hospitals NHS Trust) ;
Hardy, Katie (Portsmouth Hospitals NHS Trust) ;
Standing, Fran (Portsmouth Hospitals NHS Trust) ;
O'Neill, Lauren (Portsmouth Hospitals NHS Trust) ;
Abelake, Eugenia (Portsmouth Hospitals NHS Trust) ;
Deep, Akash (King's College Hospital NHS Foundation Trust) ;
Nsirim, Eniola (King's College Hospital NHS Foundation Trust) ;
Willis, Louise (University of Oxford) ;
Young, Zoe (University of Oxford) ;
Royad, C. (Kettering General Hospital NHS Foundation Trust) ;
White, Sonia (Kettering General Hospital NHS Foundation Trust) ;
Fortune, P.M. (Central Manchester NHS Trust) ;
Hudnott, Phil (Central Manchester NHS Trust) ;
González, Férnando Álvez (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Barral-Arca, Ruth (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Cebey-López, Miriam (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Curras-Tuala, María José (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
García, Natalia (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Vicente, Luisa García (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Gómez-Carballa, Alberto (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Rial, José Gómez (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Beiroa, Andrea Grela (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Grande, Antonio Justicia (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Iglesias, Pilar Leboráns (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Santos, Alaba Elena Martínez (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Martinón-Torres, Nazareth (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Sánchez, José María Martinón (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Pérez, Belén Mosquera (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Pacheco, Pablo Obando (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Pardo-Seco, Jacobo (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Pischedda, Sara (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Calle, Irene Rivero (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Rodríguez-Tenreiro, Carmen (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Redondo-Collazo, Lorenzo (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Fernández, Sonia Serén (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Silva, María del Sol Porto (Instituto de Investigación Sanitaria de Santiago (IDIS)) ;
Vega, Ana (Universidade de Santiago de Compostela (USC)) ;
Reyes, Susana Beatriz (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
León, María Cruz León (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Mingorance, Álvaro Navarro (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Barrios, Xavier Gabaldó (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Vergara, Eider Oñate (Hospital de Donostia (Sant Sebastià, País Basc)) ;
Torre, Andrés Concha (Hospital Universitario Central de Asturias) ;
Vivanco, Ana (Hospital Universitario Central de Asturias) ;
Fernández, Reyes (Hospital Universitario Central de Asturias) ;
Sánchez, Francisco Giménez (Complejo Hospitalario Torrecárdenas (Almeria)) ;
Forte, Miguel Sánchez (Complejo Hospitalario Torrecárdenas (Almeria)) ;
Rojo, Pablo (Hospital 12 de Octubre (Madrid)) ;
Contreras, J.Ruiz (Hospital 12 de Octubre (Madrid)) ;
Palacios, Alba (Hospital 12 de Octubre (Madrid)) ;
Navarro, Marisa (Hospital General Universitario Gregorio Marañón) ;
Álvarez, Cristina Álvarez (Hospital General Universitario Gregorio Marañón) ;
Lozano, María José (Hospital General Universitario Gregorio Marañón) ;
Carreras, Eduardo (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Brió Sanagustín, Sonia (Institut d'Investigació Biomèdica Sant Pau) ;
Neth, Olaf (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Padilla, Ma del Carmen Martínez (Complejo Hospitalario de Jaén) ;
Tato, Luis Manuel Prieto (Hospital Universitario de Getafe (Madrid)) ;
Guillén, Sara (Hospital Universitario de Getafe (Madrid)) ;
Silveira, Laura Fernández (Hospital Universitari i Politècnic La Fe (València)) ;
Moreno, David (Hospital Regional Universitario Carlos Haya (Málaga)) ;
van Furth, A.M.Tutu (Vrije Universiteit University Medical Center) ;
van der Flier, Michiel (Radboud University Medical Center) ;
Boeddha, N.P. (University Medical Center) ;
Driessen, G.J.A. (University Medical Center) ;
Pajkrt, D. (Emma Children's Hospital Academic Medical Center) ;
Sanders, E.A.M. (University Medical Center Utrecht - Wilhelmina Children's Hospital) ;
van de Beek, D. (University of Amsterdam) ;
van der Ende, A. (University of Amsterdam) ;
Philipsen, H.L.A. (Radboud University Medical Center) ;
Adeel, A.O.A. (Kennemer Gasthuis) ;
Breukels, M.A. (Elkerliek Hospital) ;
Brinkman, Daniëlle M.C (Alrijne Hospital) ;
de Korte, C.C.M.M. (Beatrix Hospital) ;
de Vries, E. (Jeroen Bosch Hospital) ;
de Waal, W.J. (Diakonessenhuis) ;
Dekkers, R. (Maasziekenhuis Pantein) ;
Dings-Lammertink, A. (Gelre Hospitals) ;
Doedens, R.A. (Martini Hospital) ;
Donker, A.E. (Maxima Medical Center) ;
Dousma, M. (Gemini Hospital) ;
Faber, T.E. (Medical Center Leeuwarden) ;
Gerrits, G.P.J.M. (Canisius-Wilhelmina Hospital) ;
Gerver, J.A.M. (Rode Kruis Hospital) ;
Heidema, J. (St. Antonius Hospital) ;
Homan-van der Veen, J. (Deventer Hospital) ;
Jacobs, M.A.M. (Slingeland Hospital) ;
Jansen, N.J.G. (University Medical Center Utrecht - Wilhelmina Children's Hospital) ;
Kawczynski, P. (Refaja Hospital) ;
Klucovska, K. (Bethesda Hospital) ;
Kneyber, M.C.J. (University Medical Center Groningen. Beatrix Children's hospital) ;
Koopman-Keemink, Y. (Haga Hospital - Juliana Children's Hospital) ;
Langenhorst, V.J. (Isala Hospital) ;
Leusink, J. (Bernhoven Hospital) ;
Loza, B.F. (VieCuri Medical Center) ;
Merth, I.T. (Ziekenhuisgroep Twente) ;
Miedema, C.J. (Catharina Hospital) ;
Neeleman, C. (Radboud University Medical Center) ;
Noordzij, J.G. (Reinier de Graaf Gasthuis) ;
Obihara, C.C. (ETZ Elisabeth) ;
van Overbeek-van Gils, A.L.T. (Scheper Hospital) ;
Poortman, G.H. (St. Jansdal Hospital) ;
Potgieter, S.T. (Laurentius Hospital) ;
Potjewijd, J. (Isala Diaconessenhuis) ;
Rosias, P.P.R. (Zuyderland Medical Center) ;
Sprong, T. (Canisius-Wilhelmina Hospital) ;
ten Tussher, G.W. (Westfriesgasthuis) ;
Thio, B.J. (Medisch Spectrum Twente) ;
Tramper-Stranders, G.A. (St. Franciscus Gasthuis) ;
van Deuren, M. (Radboud University Medical Center) ;
van der Meer, H. (Vrije Universiteit University Medical Center) ;
van Kuppevelt, A.J.M. (Streekziekenhuis Koningin Beatrix) ;
van Wermeskerken, A.M. (Flevo Hospital) ;
Verwijs, W.A. (Zuwe Hofpoort Hospital) ;
Wolfs, T.F.W. (University Medical Center Utrecht - Wilhelmina Children's Hospital) ;
Agyeman, Philipp (University of Bern) ;
Aebi, Christoph (University of Bern) ;
Berger, Christoph (University Children's Hospital Zurich) ;
Giannoni, Eric (Infectious Diseases Service. Lausanne University Hospital) ;
Stocker, Martin (Department of Pediatrics. Children's Hospital Lucerne) ;
Posfay-Barbe, Klara M. (Geneva University Hospitals) ;
Heininger, Ulrich (Universitäts-Kinderspital beider Basel. Abt für Infektiologie) ;
Bernhard-Stirnemann, Sara (Children's Hospital Aarau) ;
Niederer-Loher, A. (Children's Hospital of Eastern Switzerland St. Gallen) ;
Kahlert, Christian (Children's Hospital of Eastern Switzerland St. Gallen) ;
Hasters, Paul (University Hospital Zurich (Suïssa)) ;
Relly, Christa (University Children's Hospital Zurich) ;
Baer, Walter (Children's Hospital Chur) ;
Paulus, Stéphane (Alder Hey Children's Hospital) ;
Frederick, Hannah (Alder Hey Children's Hospital) ;
Jennings, Rebecca (Alder Hey Children's Hospital) ;
Johnston, Joanne (Alder Hey Children's Hospital) ;
Kenwright, Rhian (Alder Hey Children's Hospital) ;
Agbeko, Rachel (Great North Children's Hospital) ;
Bojang, Kalifa (Medical Research Council Unit Gambia) ;
Sarr, Isatou (Medical Research Council Unit Gambia) ;
Kebbeh, Ngane (Medical Research Council Unit Gambia) ;
Sey, Gibbi (Medical Research Council Unit Gambia) ;
Saidykhan, Momodou (Medical Research Council Unit Gambia) ;
Cole, Fatoumatta (Medical Research Council Unit Gambia) ;
Thomas, Gilleh (Medical Research Council Unit Gambia) ;
Antonio, Martin (Medical Research Council Unit Gambia) ;
Walcher, Wolfgang (Medical University of Graz) ;
Geishofer, Gotho (Medical University of Graz) ;
Klobassa, Daniela (Medical University of Graz) ;
Martin, Müller (Medical University of Graz) ;
Pfurtscheller, Klaus (Medical University of Graz) ;
Reiter, Karl (Kinderklinik der LMU München am Dr. von Haunerschen Kinderspital) ;
Rödl, Siegfried (Medical University of Graz) ;
Zobel, Gerfried (Medical University of Graz) ;
Zöhrer, Bettina (Medical University of Graz) ;
Töpke, Bärbel (Ostalb-Klinikum) ;
Fucik, Peter (Krankenhaus Amstetten) ;
Gabriel, Markwart (Klinikum Aschaffenburg) ;
Penzien, Johann M. (Zentralklinikum Kinderkliniken) ;
Diab, Gedeon (Kreiskrankenhaus Bad Hersfeld) ;
Miething, Robert (Diakonie-Krankenhaus) ;
Deeg, K.H. (Klinikum Bamberg) ;
Hammer, Jürg (Universitäts-Kinderspital beider Basel) ;
Heininger, Ulrich (Universitäts-Kinderspital beider Basel) ;
Varnholt, Verena (Uni-Klinikum Charité) ;
Schmidt, Andreas (St.-Agnes-Hospital) ;
Bindl, Lutz (Rheinische Friedrich-Wilhelms-Universität) ;
Sillaber, Ursula (Landeskrankenhaus Bregenz. Abt für Innere Medizin) ;
Huemer, Christian (Landeskrankenhaus Bregenz. Abt für Kinderheilkunde) ;
Meier, Primrose (Zentralkrankenhaus Links d. Weser) ;
Simic-Schleicher, G. (Zentralkrankenhaus Bremen-Nord) ;
Markart, Markus (Ospedale di Bressanone) ;
Pfau, Eberhard (DRK-Krankenhaus Chemnitz-Rabenstein) ;
Broede, Hans (Klinikum Lippe-Detmold GmbH) ;
Ausserer, Bernd (Krankenhaus Dornbirn) ;
Kalhoff, Hermann (Städt. Kliniken Dortmund) ;
Arpe, Volker (St. Marien-Hospital Düren-Birkesdorf) ;
Schweitzer-Krantz, Susanne (Evangelisches Krankenhaus) ;
Kasper, Johannes-Martin (St. Georg Klinikum Eisenach gGmbH) ;
Loranth, Kathrin (Krankenhaus der Barmherzigen Brüder) ;
Bittrich, Hans J. (Helios Klinikum Erfurt) ;
Simma, Burkhard (Landeskrankenhaus Feldkirch) ;
Klinge, Jens (Klinikum Fürth) ;
Fedlmaier, Michael (Klinikum Garmisch-Partenkirchen) ;
Weigand, Nicola (Klinikum Justus-Liebig-Uni-O) ;
Herting, Egbert (Georg-August Universitäts-Kinderklinik) ;
Grube, Regina (University Klinik für Neurologie) ;
Fusch, Christoph (Klinikum d. Ernst-Moritz-Arndt-Universität) ;
Gruber, Alois (Krankenhaus der Schulschwestern Grieskirchen) ;
Schimmel, Ulf (Allg. Krankenhaus Hagen GmbH) ;
Knaufer-Schiefer, Suzanne (Ohrekreis-Klinikum) ;
Lässig, Wolfgang (Städt. Krankenhaus Martha-Maria Halle-Dölau gGmbH) ;
Hennenberger, Axel (Kinderkrankenhaus Wilhelmstift) ;
von der Wense, Axel (Altonaer Kinderkrankenhaus) ;
Tillmann, Roland (Klinikum Kreis Herford) ;
Schwarick, Jürgen (Kreiskrankenhaus Herzberg) ;
Sitzmann, Friedrich C. (University Klinik für Kinder- und Jugendmedizin) ;
Streif, Werner (University Klinik für Kinder- und Jugendheilkunde Innsbruck) ;
Müller, Herbert (Klinik Robert-Weixler-Strasse) ;
Kurnik, Peter (Landeskrankenhaus Klagenfurt) ;
Groneck, Peter (Kinderklinik der Stadt Köln) ;
Weiss, Ute (Achenbach-Kreiskrankenhaus) ;
Gröblacher-Roth, Helene (Landeskrankenhaus Krems a. d. Donau) ;
Bensch, Jürgen (Vinzentius-Krankenhaus) ;
Moser, Reinhard (Landeskrankenhaus Leoben) ;
Schwarz, Rudolf (Landes-Kinderklinik Linz) ;
Lenz, Kurt (Konventhospital der Barmherzigen Brüder) ;
Hofmann, Thomas (Evangelisches Krankenhaus) ;
Göpel, Wolfgang (Med. Universität zu Lübeck) ;
Schulz, Dietrich (Städtisches Klinikum Lüneburg) ;
Berger, Thomas (Kantonspital Luzern) ;
Hauser, Erwin (Landeskrankenhaus Mödling) ;
Förster, Kai Martin (Städt. Krankenhaus Harlaching) ;
Peters, Jochen (Kinderklinik der TU München) ;
Nicolai, T homas (Kinderklinik im Dr. v. Haunerschen Kinderspital) ;
Kumlien, Björn. (Kinderklinik des Dritten Ordens) ;
Beckmann, Regina (Dietrich-Bonhoeffer-Klinikum) ;
Seitz, Christiane (FEK-Friedrich-Ebert-Krankenhaus. Neumünster GmbH) ;
Hüseman, D. (Ruppiner Kliniken GmbH) ;
Schürmann, Roland (Städt. Kliniken Neuss Lukaskrankenhaus GmbH) ;
Ta, Van Hop (Evangelisches Krankenhaus) ;
Weikmann, Eckart (Landeskrankenhaus Oberwart) ;
Evert, W. (Städt. Kliniken Offenbach) ;
Hautz, Jürgen (Klinikum Offenburg) ;
Seidenberg, Jürgen (Elisabeth-Kinderkrankenhaus) ;
Wocko, Lucia (Krankenhaus Oranienburg) ;
Luigs, Petra (St.Vincenz-Krankenhaus Frauen- u. Kinderklinik) ;
Reiter, Hans-Ludwig (Klinik für Kinder und Jugendliche am Städtischen Klinikum) ;
Quietzach, J. (Vogtland-Klinikum Plauen GmbH) ;
König, Michael (Oberschwaben Klinik gGmbH) ;
Herrmann, Johanna (Kreiskrankenhaus Rendsburg) ;
Mitter, Horst (Krankenhaus der Barmherzigen Schwestern Ried) ;
Seidler, Ekkehard (Kreiskrankenhaus Obergöltzsch-Rodewisch) ;
Maak, Bernhard (Thüringen-Klinik "Georgius Agricola" gGmbH) ;
Sperl, Wolfgang (Landeskrankenanstalten Salzburg) ;
Zwiauer, Karl (Landesklinikum Sankt Pölten) ;
Meissl, Manfred (Landeskrankenhaus Schärding) ;
Koch, Reinhard (Leopoldina-Krankenhaus) ;
Cremer, Manfred (DRK-Kinderklinik Siegen) ;
Breuer, H.A. (Städt. Klinikum Solingen) ;
Görke, W. (Johanniter Kinderklinik) ;
Nossal, Robert (Olga Hospital Stuttgart) ;
Pernice, Walter (Kreiskrankenhaus Torgau) ;
Brangenberg, alf. (Klinikum Traunstein) ;
Salzer, Hans R. (Landeskrankenhaus Tulln) ;
Koch, Hartmut (St. Marien-Hospital) ;
Schaller, Gerhard (Landeskrankenhaus Villach) ;
Paky, Franz (Landeskrankenhaus Vöcklabruck) ;
Straßer, Friedrich (Klinikum Weiden) ;
Eitelberger, Franz (Krankenhaus der Barmherzigen Schwestern v. heiligen Kreuz) ;
Sontheimer, D. (Harz-Klinikum Wernigerode GmbH) ;
Lischka, Andreas (Wilhelminenspital Wien) ;
Kronberger, Martina (St. Anna Kinderspital) ;
Dilch, Alfred (Gottfried von Preyersches Kinderspital der Stadt Wien) ;
Scheibenpflug, Christian (Donauspital im SMZ-Ost der Stadt Wien) ;
Bruckner, Robert (Krankenhaus Wiener Neustadt) ;
Mahler, Klaus (St. Elisabeth Krankenhaus) ;
Runge, Klaus (Zentrum für Kinder- und Jugendmedizin) ;
Kunze, Wolfgang (Krankenhaus Muldentalkreis Wurzen) ;
Schermann, Peter (Krankenhaus Zwettl) ;
Universitat Autònoma de Barcelona
Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. [...]
2019 - 10.1038/s41598-019-43292-6
Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 6966
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11 p, 1.1 MB |
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
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Töpf, Ana (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Johnson, Katherine (Newcastle University) ;
Bates, Adam (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Phillips, Lauren (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Chao, Katherine R. (Broad Institute of MIT and Harvard) ;
England, Eleina M. (Broad Institute of MIT and Harvard) ;
Laricchia, KristenM. (Broad Institute of MIT and Harvard) ;
Mullen, Thomas (Broad Institute of MIT and Harvard) ;
Valkanas, Elise (Broad Institute of MIT and Harvard) ;
Xu, Liwen (Broad Institute of MIT and Harvard) ;
Bertoli, Marta (Newcastle upon Tyne NHS Foundation Trust) ;
Blain, Alison (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Casasús, Ana B. (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Duff, Jennifer (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Mroczek, Magdalena (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Specht, Sabine (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Lek, Monkol (Yale University School of Medicine) ;
Ensini, Monica (Directorate E. Unit E2 Combatting Diseases) ;
MacArthur, Daniel G. (Murdoch Children's Research Institute) ;
Akay, Ela (Newcastle upon Tyne Hospitals NHS Foundation Trust) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Baets, Jonathan (University of Antwerp) ;
Barisic, Nina (Zagreb Medical School) ;
Bastian, Alexandra (University of Medicine and Pharmacy Carol Davila Bucharest) ;
Borell, Sabine (University of Freiburg) ;
Chamova, Teodora (Alexandrovska Medical University) ;
Claeys, Kristl (KU Leuven) ;
Colomer, Jaume (Hospital Sant Joan de Deu) ;
Coppens, Sandra (Université Libre de Bruxelles) ;
Deconinck, Nicolas (Hôpital Universitaire des Enfants Reine Fabiola (HUDERF)) ;
de Ridder, Willem (University of Antwerp) ;
Diaz-Manera, Jordi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Domínguez-González, C (Instituto de Investigación Hospital 12 de Octubre Centro de Actividades Ambulatorias) ;
Duncan, Alexis (Queen Elizabeth University Hospital) ;
Durmus, Hacer (Istanbul Faculty of Medicine) ;
Fahmy, Nagia A. (Ain Shams University (El Caire, Egipte)) ;
Farrugia, Maria Elena (Queen Elizabeth University Hospital) ;
Fernández-Torrón, Roberto (Instituto de Salud Carlos III) ;
Gonzalez-Quereda, L (Institut d'Investigació Biomèdica Sant Pau) ;
Haberlova, Jana (Charles University) ;
von der Hagen, Maja (Technische Universitat Dresden) ;
Hahn, Andreas (Justus-Liebig-University Giessen) ;
Jakovčević, Antonia (School of Medicine Zagreb) ;
Jerico Pascual, Ivonne (Complejo Hospitalario de Navarra) ;
Kapetanovic, Solange (Hospital de Basurto (Bilbao, Biscaia)) ;
Kenina, Viktorija (Riga East University Hospital) ;
Kirschner, Janbernd (University of Freiburg) ;
Klein, Andrea (Inselspital Bern) ;
Kölbel, Heike (University of Duisburg) ;
Kostera-Pruszczyk, Anna (Medical University of Warsaw) ;
Kulshrestha, Richa (RJAH Orthopaedic Hospital NHS Foundation Trust) ;
Lähdetie, Jaana (University of Turku and Turku University Central Hospital) ;
Layegh, Mahsa (Tehran University of Medical Sciences) ;
Longman, Cheryl (Queen Elizabeth University Hospital) ;
López de Munain, Adolfo (University of the Basque Country UPV-EHU) ;
Loscher, Wolfgang (Medical University of Innsbruck) ;
Lusakowska, Anna (Medical University of Warsaw) ;
Maddison, Paul (Nottingham University Hospitals NHS Trust (Regne Unit)) ;
Magot, Armelle (Hôtel-Dieu. University Hospital) ;
Majumdar, Anirban (Bristol Children's Hospital) ;
Martí, Pilar (Instituto de Investigación Sanitaria La Fe) ;
Martínez Arroyo, Amaia (Hospital Galdakao) ;
Mazanec, Radim (Charles University) ;
Mercier, Ssandra (Hôtel-Dieu. University Hospital) ;
Mongini, Tiziana (University of Turin) ;
Muelas, Nuria (Instituto de Investigación Sanitaria La Fe) ;
Nascimento, Andrés (Hospital Sant Joan de Deu) ;
Nafissi, Shahriar (Tehran University of Medical Sciences) ;
Omidi, Shirin (Tehran University of Medical Sciences) ;
Ortez González, Carlos Ignacio (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Paquay, Stéphanie (Université de Louvain) ;
Pereon, Yann (Hôtel-Dieu. University Hospital) ;
Perić, Stojan (Clinical Center of Serbia) ;
Ponzalino, Valentina (University of Turin) ;
Rakočević Stojanović, Vidosava (Clinical Center of Serbia) ;
Remiche, Gauthier (Université Libre de Bruxelles) ;
Rodríguez Sainz, Aida (Hospital Galdakao) ;
Rudnik, Sabine (Medical University Innsbruck) ;
Sanchez Albisua, Iciar (University of Tübingen) ;
Santos, Manuela (Centro Hospitalar Universitário Porto) ;
Schara, Ulrike (University of Duisburg) ;
Shatillo, Andriy (Psychiatry and Narcology of NAMS of Ukraine) ;
Sertić, Jadranka (Zagreb Medical School) ;
Stephani, Ulrich (University Medical Center Schleswig-Holstein) ;
Strang-Karlsson, Sonja (Helsinki University Hospital) ;
Sznajer, Yves (Université de Louvain) ;
Tanev, Ani (Alexandrovska Medical University) ;
Tournev, Ivailo (New Bulgarian University) ;
Van den Bergh, Peter (Université de Louvain) ;
Van Parijs, Vinciane (Université de Louvain) ;
Vílchez, Juan (Instituto de Investigación Sanitaria La Fe) ;
Vill, Katharina (Dr. v. Hauner Children's Hospital) ;
Vissing, John (University of Copenhagen) ;
Wallgren-Pettersson, Carina (University of Helsinki) ;
Wanschitz, Julia (Medical University of Innsbruck) ;
Willis, Tracey (RJAH Orthopaedic Hospital NHS Foundation Trust) ;
Witting, Nanna (University of Copenhagen) ;
Zulaica, Miren (Hospital de Donostia (Sant Sebastià, País Basc)) ;
Straub, Volker (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Universitat Autònoma de Barcelona
Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. [...]
2020 - 10.1038/s41436-020-0840-3
Genetics in medicine, Vol. 22 Núm. 9 (january 2020) , p. 1478-1488
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11 p, 1.1 MB |
Considerations on diagnosis and surveillance measures of PTEN hamartoma tumor syndrome : clinical and genetic study in a series of Spanish patients
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Pena-Couso, Laura (Centro Nacional de Investigaciones Oncológicas Carlos III (Espanya). Familial Cancer Clinical Unit) ;
Ercibengoa Arana, Maria (Respiratory Infection and Antimicrobial Resistance Group. Infectious Diseases Area. BioDonostia; Microbiology Department. Osakidetza Basque Health Service. Donostialdea Integrated Health Organization) ;
Mercadillo, Fátima (Familial Cancer Clinical Unit. Spanish National Cancer Research Centre (CNIO)) ;
Gómez-Sánchez, David (Clinical and Translational Lung Cancer Research Unit. i+12 Research Institute and Biomedical Research Networking Center in Oncology (CIBERONC)) ;
Inglada-Pérez, Lucia (Biostatistics Unit. Statistics and Operational Research Department. Faculty of Medicine. Complutense University of Madrid) ;
Santos, Maria Lucia S.F. (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ;
Lanillos, Javier (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ;
Gutiérrez-Abad, David (Medical Oncology Service. University Hospital of Fuenlabrada) ;
Hernández, Almudena (Dermatology Service. University Hospital of Fuenlabrada) ;
Carbonell, Pablo (Biochemistry and Clinical Genetics Centre. Virgen Arrixaca University Hospital) ;
Letón, Rocío (Hereditary Endocrine Cancer Group. Spanish National Cancer Research Centre (CNIO)) ;
Robledo, Mercedes (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Rodriguez-Antona, Cristina (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Perea García, José (Health Research Institute-Fundación Jiménez Díaz University Hospital) ;
Urioste, Miguel (Familial Cancer Clinical Unit. Spanish National Cancer Research Centre (CNIO)) ;
Alonso, Miguel Ángel (Virgen del Camino Hospital) ;
Andrés, Raquel (0000-0002-0762-6415) ;
Arévalo, Sara (Hospital of Donostia) ;
Arias, Maria del Mar (Virgen del Camino Hospital) ;
Balmaña Gelpí, Judith (Hospital Universitari Vall d'Hebron) ;
Beristain, Elena (Txagorritxu Hospital) ;
Blanco Guillermo, Ignacio (Institut Català d'Oncologia) ;
Boronat, Mauro (Hospital of Gran Canaria) ;
Brunet, Joan (Institut Català d'Oncologia) ;
Cózar-León, Victoria (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
del Campo Casanelles, Miguel (Hospital Universitari Vall d'Hebron) ;
Díaz, Arantza (Móstoles Hospital) ;
Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Barcina, María Jesús (Hospital de Basurto (Bilbao, Biscaia)) ;
González, Margarita (Can Misses Hospital) ;
Guitart, Miriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Hernán, Imma (Terrassa Hospital) ;
Hernández, Héctor Salvador (Sant Joan de Déu Hospital) ;
Hernando, Susana (Alcorcón Hospital) ;
Lacambra, Carmen (Severo Ochoa Hospital) ;
Lasa, Adriana (Institut d'Investigació Biomèdica Sant Pau) ;
Lastra, Enrique (Hospital of Burgos) ;
Llort, Gemma (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
del Rosario Marín, Maria (Puerta del Mar Hospital) ;
Marrupe, David (Móstoles Hospital) ;
Martínez, Francisco (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ;
Martínez, Victor (La Paz Hospital) ;
Martorell, Loreto (Sant Joan de Déu Hospital) ;
Orera, Maria (Gregorio Marañón Hospital) ;
Pedrinaci, Susana (Hospital Universitario Virgen de las Nieves (Granada)) ;
Pérez, Pedro (San Carlos Hospital) ;
Pineda, Marta (Institut Català d'Oncologia) ;
Plasencia, Ana Maria (Asturias Central Hospital) ;
Ramon y Cajal, Teresa (Institut d'Investigació Biomèdica Sant Pau) ;
Robles, Luis ;
Rodà, Diana (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Rodríguez, Nuria (La Paz Hospital) ;
Rosell Andreo, Jordi (Son Dureta Hospital) ;
Sáez, Raquel (Hospital of Donostia) ;
Salvat, Monica (Sant Joan de Reus) ;
Sánchez, Antonio (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Santana, Alfredo (Hospital of Gran Canaria) ;
Soto, Jose Luis (General Hospital of Elche) ;
Toll, Agustin (Del Mar Hospital) ;
Tuneu, Anna (Hospital of Donostia) ;
Vázquez, Carlos (Hospital of Gran Canaria)
Background: The limited knowledge about the PTEN hamartoma tumor syndrome (PHTS) makes its diagnosis a challenging task. We aimed to define the clinical and genetic characteristics of this syndrome in the Spanish population and to identify new genes potentially associated with the disease. [...]
2022 - 10.1186/s13023-021-02079-7
Orphanet Journal of Rare Diseases, Vol. 17 Núm. 1 (december 2022) , p. 85
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Chemical analysis of pottery reveals the transition from a maritime to a plant-based economy in pre-colonial coastal Brazil
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Admiraal, Marjolein (University of York. Department of Archaeology) ;
Colonese, Andre Carlo (Universitat Autònoma de Barcelona. Institut de Ciència i Tecnologia Ambientals) ;
Milheira, Rafael (Universidade Federal de Pelotas. Departamento de Antropologia e Arqueologia) ;
Bandeira, Dione da Rocha (Universidade da Região de Joinville) ;
Demathe, Alexandro (Universidade do Sul de Santa Catarina) ;
Pereira dos santos, Adriana M. (Museu Arqueológico de Sambaqui de Joinville) ;
Fossile, Thiago (Universitat Autònoma de Barcelona. Institut de Ciència i Tecnologia Ambientals) ;
Talbot, Helen M. (University of York. Department of Archaeology) ;
Bondetti, Manon (University of York. Department of Archaeology) ;
Lucquin, Alexandre (University of York. Department of Archaeology) ;
Montalvo-Cabrera, Javier (University of York. Department of Archaeology) ;
Prates, Luciano (Universidad Nacional de La Plata. División Arqueología) ;
Serna, Alejandro (University of York. Department of Archaeology) ;
Craig, Oliver E. (University of York. Department of Archaeology) ;
Universitat Autònoma de Barcelona.
Departament de Prehistòria
Understanding long-term dynamics of past socio-ecological systems is essential for their future management. The southern Atlantic Forest coast of Brazil with its biodiverse littoral zone and artisanal fishing communities, is a priority for conservation. [...]
2023 - 10.1038/s41598-023-42662-5
Scientific reports, Vol. 13 (2023) , art. 16771
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