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10 p, 1.2 MB |
Association of candidate gene polymorphisms with chronic kidney disease : Results of a case-control analysis in the NEFRONA cohort
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Valls, Joan (Instituto de Salud Carlos III) ;
Cambray, Serafí (Instituto de Salud Carlos III) ;
Pérez-Guallar, Carles (Instituto de Salud Carlos III) ;
Bozic, Milica (Instituto de Salud Carlos III) ;
Bermúdez-López, Marcelino (Instituto de Salud Carlos III) ;
Fernández, Elvira (Instituto de Salud Carlos III) ;
Betriu, Àngels (Instituto de Salud Carlos III) ;
Rodríguez, Isabel (Instituto de Salud Carlos III) ;
Valdivielso, José M. (Instituto de Salud Carlos III) ;
Aladrén Regidor, Mª José (Hospital Comarcal Ernest Lluch) ;
Almirall Daly, Jaume (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Ponz, Esther (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Arteaga Coloma, Jesús (Complejo Hospitalario de Navarra) ;
Bajo Rubio, Mª Auxiliadora (Raquel Hospital la Paz) ;
Díaz, Raquel (Raquel Hospital la Paz) ;
Belart Rodríguez, Montserrat (Sistemes Renals) ;
Gascón, Antonio (Hospital Obispo Polanco) ;
Bover, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Bronsoms Artero, Josep (Clínica Girona) ;
Cabezuelo Romero, Juan B. (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ;
Muray Cases, Salomé (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ;
Calviño Varela, Jesús (Hospital Universitario Lucus Augusti (Lugo)) ;
Caro Acevedo, Pilar (Clínica Ruber) ;
Carreras Bassa, Jordi (Diaverum Baix Llobregat) ;
Cases Amenós, Aleix (Hospital Clínic i Provincial de Barcelona) ;
Massó Jiménez, Elisabet (Hospital Clínic i Provincial de Barcelona) ;
Moreno López, Rosario (Hospital de la Defensa) ;
Cigarrán Guldris, Secundino (Hospital da Costa) ;
López Prieto, Saray (Hospital da Costa) ;
Comas Mongay, Lourdes (Hospital General de Vic) ;
Comerma, Isabel (Hospital General de Manresa) ;
Compte Jové, MªTeresa (Hospital de la Santa Creu de Jesús) ;
Cuberes Izquierdo, Marta (Hospital Universitario Reina Sofía (Córdoba, Espanya)) ;
De Álvaro, Fernando (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Hevia Ojanguren, Covadonga (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
De Arriba De La Fuente, Gabriel (Hospital Universitario de Guadalajara) ;
Del Pino Y Pino, Mª Dolores (Complejo Hospitalario Torrecardenas de Almeria) ;
Diaz-Tejeiro Izquierdo, Rafael (Francisco Hospital Virgen de la Salud) ;
Hormigos, Ahijado (Francisco Hospital Virgen de la Salud) ;
Dotori, Marta (USP Marbella) ;
Duarte, Verónica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Estupiñan Torres, Sara (Hospital Universitario de Canarias (La Laguna)) ;
Fernández Reyes, MªJosé (Hospital de Segovia) ;
Fernández Rodríguez, Mª Loreto (Hospital Príncipe de Asturias) ;
Fernández, Guilermina (Clínica Santa Isabel) ;
Galán Serrano, Antonio (Hospital General Universitari de València) ;
García Cantón, Cesar (Hospital Universitario Insular de Gran Canaria) ;
García Herrera, Antonio L. (Hospital Universitario Puerto Real (Cadis)) ;
García Mena, Mercedes (Hospital San Juan de Dios) ;
Gil Sacaluga, Luis (Hospital Virgen Del Rocío) ;
Aguilar, Maria (Hospital Virgen Del Rocío) ;
Górriz, José Luis (Hospital Universitari Doctor Peset (València)) ;
Huarte Loza, Emma (Hospital San Pedro de Alcántara) ;
Lerma, José Luis (Hospital Universitario de Salamanca) ;
Liebana Cañada, Antonio (Hospital de Jaén) ;
Marín Álvarez, Jesús Pedro. (Hospital San Pedro de Alcántara) ;
Martín Alemany, Nadia (Hospital Universitari de Girona Doctor Josep Trueta) ;
Martín García, Jesús (Hospital Nuestra Señora de Sonsoles (Àvila)) ;
Martínez Castelao, Alberto (Hospital Universitari de Bellvitge) ;
Martínez Villaescusa, María (Complejo Hospitalario Universitario de Albacete) ;
Martínez, Isabel (Hospital Galdakao) ;
Moina Eguren, Iñigo (Hospital Basurto) ;
Moreno Los Huertos, Silvia (Hospital Santa Bárbara) ;
Mouzo Mirco, Ricardo (Hospital El Bierzo Ponferrada) ;
Munar Vila, Antonia (Hospital Universitari Son Espases (Palma de Mallorca, Balears)) ;
Muñoz Díaz, Ana Beatriz (Hospital Vithas Nisa Virgen Del Consuelo) ;
Navarro González, Juan F. (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ;
Nieto, Javier (Hospital General Universitario de Ciudad Real) ;
Carreño, Agustín (Hospital General Universitario de Ciudad Real) ;
Novoa Fernández, Enrique (Complexo Hospitalario de Ourense) ;
Ortiz, Alberto (Fundacion Jimenez Diaz) ;
Fernandez, Beatriz (Fundacion Jimenez Diaz) ;
Paraíso, Vicente (Hospital Universitario del Henares (Madrid)) ;
Pérez Fontán, Miguel (Complejo Hospitalario Universitario de A Coruña) ;
Peris Domingo, Ana (Hospital Francesc de Borja) ;
Piñera Haces, Celestino (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Prados Garrido, Mª Dolores (Hospital Universitario San Cecilio (Granada)) ;
Prieto Velasco, Mario (Hospital Universitario de León) ;
Puig Marí, Carmina (Hospital D'Igualada) ;
Rivera Gorrín, Maite (Hospital Universitario Ramón y Cajal (Madrid)) ;
Rubio, Esther (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Ruiz, Pilar (Hospital de Sant Joan Despí Moisès Broggi) ;
Salgueira Lazo, Mercedes (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Martínez Puerto, Ana Isabel (Hospital Universitario Virgen Macarena (Sevilla, Andalusia)) ;
Sánchez Tomero, José Antonio (Hospital Universitario de la Princesa (Madrid)) ;
Sánchez, José Emilio (Hospital Universitario Central de Asturias) ;
Sans Lorman, Ramon (Hospital de Figueres) ;
Saracho, Ramon (Hospital de Santiago) ;
Sarrias, Maria (Hospital Universitari Vall d'Hebron) ;
Seron, Daniel (Hospital Universitari Vall d'Hebron) ;
Soler, María José (Hospital del Mar (Barcelona, Catalunya)) ;
Barrios, Clara (Hospital del Mar (Barcelona, Catalunya)) ;
Sousa, Fernando (Hospital Rio Carrión) ;
Toran, Daniel (Hospital General de Jerez) ;
Tornero Molina, Fernando (Hospital Universitario Del Sureste) ;
Usón Carrasco, José Javier (Hospital Virgen de La Luz (Cuenca)) ;
Valera Cortes, Iidefonso (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Vilaprinyo del Perugia, Mª Merce (Institut Catala d'Urologia i Nefrologia) ;
Virto Ruiz, Rafael C. (Hospital San Jorge) ;
Carratalá, Vicente Pallarés (Clinica MEDEFIS) ;
Altozano, Carlos Santos (CS Azuqueca de Henares) ;
Ródenas, Miguel Artigao (CS Zona III) ;
Gil, Inés Gil (Área Básica Sanitaria de Arán) ;
Gil, Francisco Adan (CS Alfaro) ;
Criado, Emilio García (Centro de Salud Del Carpio) ;
Belinchón, Rafael Durá (CS Godella) ;
Ma Fernández Toro, Jose (CS Zona Centro) ;
Antonio Divisón Garrote, Juan (Consultorio de Fuentealbilla) ;
Universitat Autònoma de Barcelona
Chronic kidney disease (CKD) is a major risk factor for end-stage renal disease, cardiovascular disease and premature death. Despite classical clinical risk factors for CKD and some genetic risk factors have been identified, the residual risk observed in prediction models is still high. [...]
2019 -  10.3389/fgene.2019.00118
Frontiers in genetics, Vol. 10 Núm. FEB (2019) , p. 118
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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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13 p, 1.6 MB |
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis
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König, Jens Christian (Department of General Pediatrics, University Children's Hospital Münster) ;
Karsay, Rebeka (Department of General Pediatrics, University Children's Hospital Münster) ;
Gerß, Joachim (Institute of Biostatistics and Clinical Research, University of Münster) ;
Schlingmann, Karl-Peter (Department of General Pediatrics, University Children's Hospital Münster) ;
Dahmer-Heath, Mareike (Department of General Pediatrics, University Children's Hospital Münster) ;
Telgmann, Anna-Katharina (Department of General Pediatrics, University Children's Hospital Münster) ;
Kollmann, Sabine (Department of General Pediatrics, University Children's Hospital Münster) ;
Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron) ;
Gillion, Valentine (Division of Nephrology, Saint-Luc Academic Hospital, Université Catholique Louvain) ;
Bockenhauer, Detlef (Great Ormond Street Hospital for Children (Londres)) ;
Bertholet-Thomas, Aurélia (Centre de Référence des Maladies Rénales Rares-Néphrogones-Hôpital Femme Mère Enfant, Hospices Civils de Lyon-Filière ORKiD) ;
Mastrangelo, Antonio (Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ca' Granda Ospedale Maggiore Policlinico) ;
Boyer, Olivia (Hôpital Necker-Enfants Malades, Université de Paris) ;
Lilien, Marc (Department of Pediatric Nephrology, University Medical Center Utrecht) ;
Decramer, Stéphane (Université Toulouse III Paul-Sabatier) ;
Schanstra, Joost. P. (Université Toulouse III Paul-Sabatier) ;
Pohl, Martin (Department of Pediatrics, University Hospital Freiburg) ;
Schild, Raphael (University Medical Center Hamburg-Eppendorf) ;
Weber, Stefanie (University Children's Hospital) ;
Hoefele, Julia (Institut für Humangenetik) ;
Drube, Jens (Departement of Pediatric Nephrology, Medical School Hannover) ;
Cetiner, Metin (Department of Pediatric Nephrology, University of Duisburg-Essen) ;
Hansen, Matthias (Clementine Kinderhospital) ;
Thumfart, Julia (Charité - Universitätsmedizin Berlin) ;
Tönshoff, Burkhard (Department of Pediatrics I, University Children's Hospital Heidelberg) ;
Habbig, Sandra (Department of Pediatric, University of Cologne) ;
Liebau, Max Christoph (University Hospital Cologne and Medical) ;
Bald, Martin (Children's Hospital (Alemanya)) ;
Bergmann, Carsten (Medizinische Genetik Mainz (Alemanya)) ;
Pennekamp, Petra (Department of General Pediatrics, University Children's Hospital Münster) ;
Konrad, Martin (Department of General Pediatrics, University Children's Hospital Münster) ;
Universitat Autònoma de Barcelona
Nephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% of end-stage kidney disease (ESKD) in children. Prediction of kidney prognosis poses a major challenge. We assessed differences in kidney survival, impact of variant type, and the association of clinical characteristics with declining kidney function. [...]
2022 - 10.1016/j.ekir.2022.05.035
Kidney International Reports, Vol. 7 (june 2022) , p. 2016-2028
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16 p, 1.1 MB |
Genetics in chronic kidney disease : conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
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Köttgen, Anna (Institute of Genetic Epidemiology. Faculty of Medicine and Medical Center. University of Freiburg) ;
Cornec-Le Gall, Emilie (Univ Brest. INSERM UMR 1078. GGB. CHU Brest) ;
Halbritter, Jan (Charité - Universitätsmedizin Berlin) ;
Kiryluk, Krzysztof (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ;
Mallett, Andrew (KidGen Collaborative. Australian Genomics Health Alliance) ;
Parekh, Rulan (Dalla Lana School of Public Health. and Health Policy. Management and Evaluation. University of Toronto) ;
Rasouly, Hila Milo (Division of Nephrology and Center for Precision Medicine and Genomics. Department of Medicine. Columbia University Irving Medical Center) ;
Sampson, Matthew G. (Kidney Disease Initiative. Broad Institute of MIT and Harvard) ;
Tin, Adrienne (Division of Nephrology. University of Mississippi Medical Center) ;
Antignac, Corinne (Department of Genetics. Necker Hospital. APHP) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Bergmann, Carsten (Department of Nephrology. Faculty of Medicine and Medical Center. University of Freiburg) ;
Bleyer, Anthony J. (Section on Nephrology. Wake Forest School of Medicine) ;
Bockenhauer, Detlef (Department of Renal Medicine. University College London) ;
Devuyst, Olivier (Department of Physiology. Mechanisms of Inherited Kidney Disorders Group. University of Zurich) ;
Florez, Jose C. (Department of Medicine. Harvard Medical School) ;
Fowler, Kevin J. (The Voice of the Patient. Inc.) ;
Franceschini, Nora (Department of Epidemiology. Gillings School of Global Public Health. University of North Carolina) ;
Fukagawa, Masafumi (Division of Nephrology. Endocrinology and Metabolism. Tokai University School of Medicine) ;
Gale, Daniel (Rare Renal Disease Registry. UK Renal Registry) ;
Gbadegesin, Rasheed A. (Department of Pediatrics. Division of Nephrology. Duke University Medical Center) ;
Goldstein, David B. (Department of Genetics and Development. Columbia University) ;
Grams, Morgan E. (Department of Nephrology. Johns Hopkins University School of Medicine) ;
Greka, Anna (Department of Medicine. Brigham and Women's Hospital. Harvard Medical School) ;
Gross, Oliver (University Medical Center Göttingen) ;
Guay-Woodford, Lisa M. (Center for Translational Science. Children's National Health System) ;
Harris, Peter C. (Division of Nephrology and Hypertension. Mayo Clinic) ;
Hoefele, Julia (Technische Universität München. Institut für Humangenetik) ;
Hung, Adriana M. (VA Tennessee Valley Healthcare System. Division of Nephrology and Hypertension. Department of Medicine. Vanderbilt Center for Kidney Disease. Vanderbilt Precision Nephrology Program. Vanderbilt University Medical Center) ;
Knoers, Nine V.A.M. (Department of Genetics. University Medical Center Groningen) ;
Kopp, Jeffrey B. (Kidney Disease Section. National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). National Institutes of Health (NIH)) ;
Kretzler, Matthias (Department of Computational Medicine and Bioinformatics. University of Michigan) ;
Lanktree, Matthew B. (Department of Medicine. McMaster University) ;
Lipska-Ziętkiewicz, Beata S. (Rare Diseases Centre and Clinical Genetics Unit. Department of Biology and Medical Genetics. Medical University of Gdansk) ;
Nicholls, Kathleen (Department of Nephrology. Royal Melbourne Hospital. University of Melbourne) ;
Nozu, Kandai (Department of Pediatrics. Kobe University Graduate School of Medicine) ;
Ojo, Akinlolu (University of Kansas School of Medicine) ;
Parsa, Afshin (Department of Medicine. University of Maryland School of Medicine) ;
Pattaro, Cristian (Eurac Research. Institute for Biomedicine (affiliated with the University of Lübeck)) ;
Pei, York (Division of Nephrology. University Health Network) ;
Pollak, Martin R. (Division of Nephrology. Beth Israel Deaconess Medical Center. Harvard Medical School) ;
Rhee, Eugene P. (Massachusetts General Hospital) ;
Sanna-Cherchi, Simone (Columbia University) ;
Savige, Judy (The University of Melbourne) ;
Sayer, John (NIHR Newcastle Biomedical Research Centre) ;
Scolari, Francesco (Department of Medical and Surgical Specialties. University of Brescia) ;
Sedor, John R. (Case Western Reserve University. Department of Physiology and Biophysics) ;
Sim, Xueling (Saw Swee Hock School of Public Health. National University of Singapore and National University Health System) ;
Somlo, Stefan (Yale University. Department of Genetics) ;
Susztak, Katalin (University of Pennsylvania. Perelman School of Medicine) ;
Tayo, Bamidele O. (Loyola University Chicago. Department of Public Health Sciences) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau) ;
van Eerde, Albertien M. (Utrecht University Medical Center. Department of Genetics) ;
Weinstock, André (Alport Syndrome Foundation) ;
Winkler, Cheryl A. (Frederick National Laboratory for Cancer Research. National Cancer Institute) ;
Wuttke, Matthias (University of Freiburg) ;
Zhang, Hong (Key Ministry of Health of China. Laboratory of Renal Disease) ;
King, Jennifer M. (August Editorial) ;
Cheung, Michael (KDIGO) ;
Jadoul, Michel (Université Catholique de Louvain. Cliniques Universitaires Saint Luc) ;
Winkelmayer, Wolfgang C. (Baylor College of Medicine. Selzman Institute for Kidney Health) ;
Gharavi, Ali G. (Columbia University Irving Medical Center) ;
Universitat Autònoma de Barcelona
Numerous genes for monogenic kidney diseases with classical patterns of inheritance, as well as genes for complex kidney diseases that manifest in combination with environmental factors, have been discovered. [...]
2022 - 10.1016/j.kint.2022.03.019
Kidney International, Vol. 101 Núm. 6 (june 2022) , p. 1126-1141
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0 p, 691.1 KB |
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity
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Haimel, Matthias (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Pazmandi, Julia (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Heredia, Raú Jiménez (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Dmytrus, Jasmin (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Bal, Sevgi Köstel (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
Zoghi, Samaneh (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (Vienna)) ;
van Daele, Paul (Erasmus University Medical Center (Rotterdam)) ;
Briggs, Tracy A. (University of Manchester) ;
Wouters, Carine (University Hospitals Leuven (Bèlgica)) ;
Bader-Meunier, Brigitte (Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE) (Paris)) ;
Aeschlimann, Florence A. (Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE),(Paris)) ;
Caorsi, Roberta (IRCCS Istituto Giannina Gaslini, Genova) ;
Eleftheriou, Despina (Hospital for Children NHS Foundation Trust (London)) ;
Hoppenreijs, Esther (Radboud University Medical Centre (Nijmegen)) ;
Salzer, Elisabeth (Medical University of Vienna) ;
Bakhtiar, Shahrzad (Goethe University) ;
Derfalvi, Beata (Dalhousie University/IWK Health Centre Halifax) ;
Saettini, Francesco (University of Milano Bicocca) ;
Kusters, Maaike A. A. (Hospital for Children NHS Foundation Trust) ;
Elfeky, Reem (Hospital for Children NHS Foundation Trust (London)) ;
Trück, Johannes (University Children's Hospital Zurich) ;
Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
van der Burg, Mirjam (Leiden University Medical Center) ;
Gattorno, Marco (IRCCS Istituto Giannina Gaslini (Genova)) ;
Seidel, Markus G. (Medical University Graz) ;
Burns, Siobhan (Royal Free Hospital NHS Foundation Trust) ;
Warnatz, Klaus (University of Freiburg) ;
Hauck, Fabian (Ludwig-Maximilians-Universität München (Munich)) ;
Brogan, Paul (Hospital for Children NHS Foundation Trust (London)) ;
Gilmour, Kimberly C. (Hospital for Children NHS Foundation Trust (London)) ;
Schuetz, Catharina (Technische Universität Dresden) ;
Simon, Anna (Radboud University Nijmegen Medical Centre) ;
Bock, Christoph (Medical University of Vienna) ;
Hambleton, Sophie (Newcastle University) ;
de Vries, Esther (Elisabeth-Tweesteden Hospital (Tilburg)) ;
Robinson, Peter N. (The Jackson Laboratory for Genomic Medicine (Farmington)) ;
van Gijn, Marielle (University Medical Center Groningen) ;
Boztug, Kaan (Medical University of Vienna) ;
Universitat Autònoma de Barcelona
Accurate, detailed, and standardized phenotypic descriptions are essential to support diagnostic interpretation of genetic variants and to discover new diseases. The Human Phenotype Ontology (HPO), extensively used in rare disease research, provides a rich collection of vocabulary with standardized phenotypic descriptions in a hierarchical structure. [...]
2021 - 10.1016/j.jaci.2021.04.033
The Journal of Allergy and Clinical Immunology, Vol. 149 (may 2021) , p. 369-378
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17 p, 1.3 MB |
Genome-wide association study of circulating interleukin 6 levels identifies novel loci
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Ahluwalia, Tarunveer Singh (University of Copenhagen) ;
Prins, Bram Peter (University of Groningen) ;
Abdollahi, Mohammadreza (University of Groningen) ;
Armstrong, Nicola (Murdoch University) ;
Aslibekyan, Stella (University of Alabama at Birmingham School of Public Health) ;
Bain, Lisa J (Qimr Berghofer Medical Research Institute) ;
Jefferis, Barbara (University College London) ;
Baumert, Jens (Helmholtz Zentrum München-German Research Center for Environmental Health) ;
Beekman, Marian (Leiden University Medical Center) ;
Ben-Shlomo, Yoav (University of Bristol) ;
Bis, Joshua C (University of Washington) ;
Mitchell, Braxton D. (University of Maryland School of Medicine) ;
de Geus, Eco J. C (Amsterdam UMC. University Medical Center) ;
Delgado, Graciela E. (University of Heidelberg) ;
Marek, Diana (Sib Swiss Institute of Bioinformatics) ;
Eriksson, Joel (University of Gothenburg) ;
Kajantie, Eero (Helsinki University Central Hospital and University of Helsinki) ;
Kanoni, Stavroula (Queen Mary University of London) ;
Kemp, John P. (University of Bristol) ;
Lu, Chen (Boston University School of Public Health) ;
Marioni, Riccardo E. (University of Edinburgh) ;
McLachlan, Stela (University of Edinburgh) ;
Milaneschi, Yuri (Amsterdam Umc. Vrije Universiteit) ;
Nolte, Ilja M. (University of Groningen) ;
Petrelis, Alexandros M. (Université de Lorraine) ;
Porcu, Eleonora (Consiglio Nazionale Delle Ricerche) ;
Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ;
Naderi, Elnaz (University of Groningen) ;
Seppälä, Ilkka (Tampere University) ;
Shah, Tina (University College London) ;
Singhal, Gaurav (University of Adelaide) ;
Standl, Marie (Helmholtz Zentrum München-German Research Center for Environmental Health) ;
Teumer, Alexander (University Medicine Greifswald) ;
Thalamuthu, Anbupalam (University of New South Wales) ;
Thiering, Elisabeth (Ludwig-Maximilians-University of Munich. Dr. von Hauner Children's Hospital) ;
Trompet, Stella (Leiden University Medical Center) ;
Ballantyne, Christie M. (Baylor College of Medicine) ;
Benjamin, Emelia J. (Boston University School of Medicine) ;
Casas, Juan P. (Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC). Va Boston Healthcare System) ;
Toben, Catherine (University of Adelaide) ;
Dedoussis, George (Harokopio University) ;
Deelen, Joris (Max Planck Institute for Biology of Ageing) ;
Durda, Peter (Larner College of Medicine. University of Vermont) ;
Engmann, Jorgen (University College London) ;
Feitosa, Mary (Washington University School of Medicine) ;
Grallert, Harald (German Center for Diabetes Research (DZD)) ;
Hammarstedt, Ann (Sahlgrenska Academy at the University of Gothenburg) ;
Harris, Sarah E (University of Edinburgh) ;
Homuth, Georg (University Medicine Greifswald) ;
Hottenga, Jouke Jan (Amsterdam UMC. University Medical Center) ;
Jalkanen, Sirpa (University of Turku) ;
Jamshidi, Yalda (St George's University of London) ;
Jawahar, Magdalene C. (University of Adelaide) ;
Jess, Tine (Statens Serum Institute) ;
Kivimaki, Mika (University College London) ;
Kleber, Marcus E. (University of Heidelberg) ;
Lahti, Jari (University of Helsinki) ;
Liu, Yongmei (Wake Forest School of Medicine) ;
Marques-Vidal, Pedro (University of Lausanne) ;
Mellström, Dan (Sahlgrenska Academy at the University of Gothenburg. Centre for Bone and Arthritis Research) ;
Mooijaart, Simon P. (Leiden University Medical Center) ;
Müller-Nurasyid, Martina (Johhanes Gutenberg University) ;
Penninx, Brenda WJH (Amsterdam Umc. Vrije Universiteit) ;
Revez, Joana A. (Qimr Berghofer Medical Research Institute) ;
Rossing, Peter (University of Copenhagen) ;
Raïkkönen, Katri (University of Helsinki) ;
Sattar, Naveed (Bhf Glasgow Cardiovascular Research Centre) ;
Scharnagl, Hubert (Medical University of Graz) ;
Sennblad, Bengt (Uppsala University) ;
Silveira, Angela (Karolinska Institutet (Estocolm, Suècia)) ;
Pourcain, Beate St (Radboud University) ;
Timpson, Nicholas J. (University of Bristol) ;
Trollor, Julian (University of New South Wales) ;
Van Dongen, Jenny (Amsterdam UMC. University Medical Center) ;
Van Heemst, Diana (Baylor College of Medicine) ;
Visvikis-Siest, Sophie (Université de Lorraine. Inserm. IGE-PCV) ;
Vollenweider, Peter (University of Lausanne) ;
Völker, Uwe (University of Turku) ;
Waldenberger, Melanie (Helmholtz Zentrum München-German Research Center for Environmental Health) ;
Willemsen, Gonneke (Amsterdam UMC. University Medical Center) ;
Zabaneh, Delilah (University College London Genetics Institute) ;
Morris, Richard W. (Bristol Medical School. University of Bristol) ;
Arnett, Donna K. (University of Kentucky) ;
Baune, Bernhard T. (University of Melbourne) ;
Boomsma, Dorret I. (Amsterdam UMC. University Medical Center) ;
Chang, Yen-Pei C. (University of Maryland School of Medicine) ;
Deary, Ian J. (University of Edinburgh) ;
Deloukas, Panos (Queen Mary University of London) ;
Eriksson, Johan G. (University of Helsinki) ;
Evans, David M. (University of Bristol) ;
Ferreira, Manuel A. (Qimr Berghofer Medical Research Institute) ;
Gaunt, Tom (University of Bristol) ;
Gudnason, Vilmundur (University of Iceland) ;
Hamsten, Anders (Karolinska Institutet (Estocolm, Suècia)) ;
Heinrich, Joachim (University of Melbourne) ;
Hingorani, Aroon (University College London) ;
Humphries, Steve E. (University College London) ;
Jukema, J. Wouter (Durrer Center for Cardiogenetic Research) ;
Koenig, Wolfgang (University of Ulm) ;
Kumari, Meena (University of Essex) ;
Kutalik, Zoltan (University of Lausanne) ;
Lawlor, Deborah A. (University of Bristol) ;
Lehtimäki, Terho (Tampere University) ;
März, Winfried (Synlab Academy. Synalb Holding Deutschland GmbH) ;
Mather, Karen A (Neuroscience Research Australia) ;
Naitza, Silvia. (Consiglio Nazionale Delle Ricerche) ;
Nauck, Matthias (Dzhk (German Center for Cardiovascular Research). Partner Site Greifswald) ;
Ohlsson, Claes (University of Gothenburg) ;
Price, Jackie F. (University of Edinburgh) ;
Raitakari, Olli (Turku University Hospital (Finlàndia)) ;
Rice, Ken (University of Washington) ;
Sachdev, Perminder S. (Prince of Wales Hospital (Australia)) ;
Slagboom, Pieternella Eline (Max Planck Institute for Biology of Ageing) ;
Sørensen, Thorkild I.A. (University of Copenhagen. Department of Public Health. Section on Epidemiology) ;
Spector, Tim (King's College London. Department of Twin Research and Genetic Epidemiology) ;
Stacey, David (University of Cambridge) ;
Stathopoulou, Maria G. (Université de Lorraine. Inserm. IGE-PCV) ;
Tanaka, Toshiko (National Institute on Aging (Estats Units d'Amèrica)) ;
Wannamethee, Sasiwarang Goya (University College London) ;
Whincup, Peter (University of London) ;
Rotter, Jerome I. (The Lundquist Institute at Harbor-UCLA Medical Center) ;
Dehghan, Abbas (Erasmus Mc) ;
Boerwinkle, Eric (Baylor College of Medicine) ;
Psaty, Bruce M. (University of Washington) ;
Snieder, Harold (University Medical Center Groningen) ;
Alizadeh, Behrooz Ziad (University Medical Center Groningen)
Interleukin 6 (IL-6) is a multifunctional cytokine with both pro-A nd anti-inflammatory properties with a heritability estimate of up to 61%. The circulating levels of IL-6 in blood have been associated with an increased risk of complex disease pathogenesis. [...]
2021 - 10.1093/hmg/ddab023
Human Molecular Genetics, Vol. 30 Núm. 5 (january 2021) , p. 393-409
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Validation and functional characterization of GWAS-identified variants for chronic lymphocytic leukemia : a CRuCIAL study
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García Martín, Paloma (Hospital Campus de la Salud (Granada)) ;
Moñiz Díez, Ana (Instituto de Investigación Sanitaria de Granada) ;
Sánchez Maldonado, José Manuel (Instituto de Investigación Sanitaria de Granada) ;
Cabrera Serrano, Antonio José (Instituto de Investigación Sanitaria de Granada) ;
ter Horst, Rob (CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences) ;
Benavente, Yolanda (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ;
Landi, Stefano (Department of Biology. University of Pisa) ;
Macauda, Angelica (German Cancer Research Center) ;
Clay-Gilmour, Alyssa (University of South Carolina) ;
Hernández-Mohedo, Francisca (Instituto de Investigación Sanitaria de Granada) ;
Niazi, Yasmeen (Hopp Children's Cancer Center) ;
González-Sierra, Pedro Antonio (Instituto de Investigación Sanitaria de Granada) ;
Espinet, Blanca (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Rodriguez-Sevilla, Juan Jose (Hospital del Mar (Barcelona, Catalunya)) ;
Maffei, Rossana (Department of Medical and Surgical Sciences. University of Modena and Reggio Emilia) ;
Blanco, Gonzalo (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Giaccherini, Matteo (Department of Biology. University of Pisa) ;
Puiggros, Anna (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Cerhan, James (Mayo Clinic) ;
Marasca, Roberto (Department of Medical and Surgical Sciences. University of Modena and Reggio Emilia) ;
Cañadas-Garre, Marisa (Instituto de Investigación Sanitaria de Granada) ;
Lopez Nevot, Miguel Angel (Hospital Universitario Virgen de las Nieves (Granada)) ;
Chen-Liang, Tzu (Hospital General Universitario Morales Meseguer (Múrcia)) ;
Thomsen, Hauke (ProtaGene CGT GmbH (Alemanya)) ;
Gámez, Irene (Hospital General Universitario Morales Meseguer (Múrcia)) ;
Morros, Rosa (Institut d'Investigació Biomèdica de Bellvitge) ;
Marcos-Gragera, Rafael (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
García-Álvarez, María (Hospital Universitario de Salamanca) ;
Llorca, Javier (Universidad de Cantabria) ;
Jerez, Andrés (Hospital General Universitario Morales Meseguer (Múrcia)) ;
Berndt, Sonja (National Institutes of Health (Estats Units d'Amèrica)) ;
Butrym, Aleksandra (Medical University of Wrocław) ;
Norman, Aaron D. (Mayo Clinic) ;
Casabonne, Delphine (CCIBER Epidemiología y Salud Pública (Madrid)) ;
Luppi, Mario (Department of Medical and Surgical Sciences. University of Modena and Reggio Emilia) ;
Slager, Susan L. (Mayo Clinic) ;
Hemminki, Kari (Charles University in Prague) ;
Li, Yang (CHannover Medical School) ;
Alcoceba, Miguel (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
Campa, Daniele (Department of Biology. University of Pisa) ;
Canzian, Federico (German Cancer Research Center (Alemanya)) ;
De Sanjose, Silvia (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ;
Försti, Asta (Hopp Children's Cancer Center) ;
Netea, Mihai G. (University of Bonn) ;
Jurado, Manuel (Instituto de Investigación Sanitaria de Granada) ;
Sainz, Juan (Universidad de Granada. Departamento de Bioquímica y Biología Molecular) ;
Universitat Autònoma de Barcelona
2022 - 10.1038/s41408-022-00676-8
Blood Cancer Journal, Vol. 12 Núm. 5 (may 2022) , p. 79
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12 p, 2.1 MB |
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome : A Cohort Study
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Furlano, Monica (Institut d'Investigació Biomèdica Sant Pau) ;
Martínez, V. (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Pybus, Marc (Institut d'Investigació Biomèdica Sant Pau) ;
Arce, Yolanda (Institut d'Investigació Biomèdica Sant Pau) ;
Crespí, Jaume (Institut d'Investigació Biomèdica Sant Pau) ;
Venegas, María del Prado (Institut d'Investigació Biomèdica Sant Pau) ;
Bullich Vilanova, Gemma (Centre de Regulació Genòmica) ;
Domingo, Andrea (Institut d'Investigació Biomèdica Sant Pau) ;
Ayasreh Fierro, Nadia (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Benito, S. (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Lorente, Laura (Institut d'Investigació Biomèdica Sant Pau) ;
Ruíz, Patricia (Institut d'Investigació Biomèdica Sant Pau) ;
Gonzalez, V.L. (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Arlandis, R. (Nephrology Department. Hospital General de la Palma) ;
Cabello, E. (Nephrology Department. Hospital General Universitario de Castellón) ;
Torres, F. (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Guirado, Luis (Institut d'Investigació Biomèdica Sant Pau) ;
Ars, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ;
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau)
Rationale & Objective: Alport syndrome is a common genetic kidney disease accounting for approximately 2% of patients receiving kidney replacement therapy (KRT). It is caused by pathogenic variants in the gene COL4A3, COL4A4, or COL4A5. [...]
2021 - 10.1053/j.ajkd.2021.02.326
American Journal of Kidney Diseases, Vol. 78 Núm. 4 (october 2021) , p. 560-570.e1
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