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10 p, 1.8 MB |
Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome
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Tessadori, Federico (Hubrecht Institute-KNAW) ;
Duran, Karen (Utrecht University) ;
Knapp, Karen (University of Otago) ;
Fellner, Matthias (University of Otago) ;
Smithson, Sarah (University Hospitals Bristol and Weston NHS Foundation Trust) ;
Beleza Meireles, Ana (University Hospitals Bristol and Weston NHS Foundation Trust) ;
Elting, Mariet W. (Amsterdam UMC) ;
Waisfisz, Quinten (Amsterdam UMC) ;
O'Donnell-Luria, Anne (Manton Center for Orphan Disease Research) ;
Nowak, Catherine (Manton Center for Orphan Disease Research) ;
Douglas, Jessica (Manton Center for Orphan Disease Research) ;
Ronan, Anne (Clinical Genetics) ;
Brunet, Theresa (Helmholtz Zentrum München) ;
Kotzaeridou, Urania (Heidelberg University Hospital (Alemanya)) ;
Svihovec, Shayna (University of Colorado Anschutz Medical Campus) ;
Saenz, Margarita S. (University of Colorado Anschutz Medical Campus) ;
Thiffault, Isabelle (Children's Mercy Hospital) ;
Del Viso, Florencia (Children's Mercy Hospital) ;
Devine, Patrick (University of California) ;
Rego, Shannon (University of California) ;
Tenney, Jessica (University of California) ;
van Haeringen, Arie (Leiden University Medical Center) ;
Ruivenkamp, Claudia A.L. (Leiden University Medical Center) ;
Koene, Saskia (Leiden University Medical Center) ;
Robertson, Stephen P. (University of Otago) ;
Deshpande, Charulata (Guy's and St Thomas' NHS Foundation Trust) ;
Pfundt, Rolph (Radboud University Medical Centre) ;
Verbeek, Nienke (University Medical Centre Utrecht) ;
van de Kamp, Jiddeke M. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Weiss, Janneke M.M. (Radboud University Medical Centre) ;
Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Banne, Ehud (Kaplan Medical Center) ;
Pepler, Alexander (Praxis für Humangenetik Tübingen) ;
Bottani, Armand (Geneva University Hospitals) ;
Laurent, Sacha (Geneva University Hospitals) ;
Guipponi, Michel (Geneva University Hospitals) ;
Bijlsma, Emilia (Leiden University Medical Center) ;
Bruel, Ange-Line (Dijon Bourgogne University Hospital) ;
Sorlin, Arthur (Dijon Bourgogne University Hospital) ;
Willis, Mary (Naval Medical Center San Diego) ;
Powis, Zoe (Ambry Genetics) ;
Smol, Thomas (Institut de Génétique Médicale) ;
Vincent-Delorme, Catherine (CHU Lille) ;
Baralle, Diana (University of Southampton) ;
Colin, Estelle (CHU d'Angers) ;
Revencu, Nicole (Université Catholique de Louvain) ;
Calpena, Eduardo (University of Oxford) ;
Wilkie, Andrew O.M. (University of Oxford) ;
Chopra, Maya (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ;
Cormier-Daire, Valerie (Université de Paris) ;
Keren, Boris (Pitié-Salpêtrière Hospital) ;
Afenjar, Alexandra (Sorbonne Université) ;
Niceta, Marcello (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ;
Terracciano, Alessandra (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ;
Specchio, Nicola (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ;
Tartaglia, Marco (Ospedale Pediatrico Bambino Gesù) ;
Rio, Marlene (Paris Descartes-Sorbonne Paris Cité University) ;
Barcia, Giulia (Paris Descartes-Sorbonne Paris Cité University) ;
Rondeau, Sophie (Paris Descartes-Sorbonne Paris Cité University) ;
Colson, Cindy (CHU Lille) ;
Bakkers, Jeroen (University Medical Center Utrecht) ;
Mace, Peter D. (University of Otago) ;
Bicknell, Louise S. (University of Otago) ;
van Haaften, Gijs (University Medical Center Utrecht) ;
Universitat Autònoma de Barcelona
Chromatin is essentially an array of nucleosomes, each of which consists of the DNA double-stranded fiber wrapped around a histone octamer. This organization supports cellular processes such as DNA replication, DNA transcription, and DNA repair in all eukaryotes. [...]
2022 -  10.1016/j.ajhg.2022.02.003
American Journal of Human Genetics, Vol. 109 (february 2022) , p. 750-758
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8 p, 329.7 KB |
Bronchial Thermoplasty Global Registry (BTGR) : 2-year results
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Torrego, Alfons (Institut d'Investigació Biomèdica Sant Pau) ;
Herth, F. J. (Thoraxklinik University of Heidelberg) ;
Munoz-Fernandez, A. M. (Hospital Universitari de Girona Doctor Josep Trueta) ;
Puente, L. (Hospital General Universitario Gregorio Marañón) ;
Facciolongo, N. (AUSL-IRCCS Reggio Emilia Pulmonology Unit. IRCCS Reggio Emilia Pulmonology Unit) ;
Bicknell, S. (Respiratory Department. Gartnavel General Hospital) ;
Novali, M. (Respiratory Department. Azienda Ospedaliera Spedali Civili di Brescia) ;
Gasparini, S. (Respiratory Department. Università Politecnica Delle Marche) ;
Bonifazi, M. (Respiratory Department. Università Politecnica Delle Marche) ;
Dheda, K. (Respiratory Department. University of Cape Town) ;
Andreo García, Felipe (Institut Germans Trias i Pujol) ;
Votruba, P. (Respiratory Department. Klinika Tuberkulozy A Respiracnich Onemocneni) ;
Langton, D. (Respiratory Department. Frankston Hospital Peninsula Health) ;
Flandes, Javier (Hospital Universitario Fundación Jiménez Díaz) ;
Fielding, D. (Respiratory Department. Royal Brisbane and Women's Hospital - Brisbane/AUS) ;
Bonta, P. I. (Department of Respiratory Medicine. Amsterdam University Medical Centers) ;
Skowasch, D. (Department of Cardiology and Pneumology. University of Bonn) ;
Schulz, C. (Respiratory Department. University Hospital Regensburg) ;
Darwiche, K. (Respiratory Department. Ruhrlandklinik - West German Lung Center. University Medicine Essen) ;
McMullen, E. (Boston Scientific Corp) ;
Grubb, G. M. (Boston Scientific Corp) ;
Niven, R. (Respiratory Department. Central Manchester University Hospitals NHS Foundation Trust) ;
Universitat Autònoma de Barcelona
Objectives Bronchial thermoplasty (BT) is a device-based treatment for subjects ≥18 years with severe asthma not well controlled with inhaled corticosteroids and long-acting beta-agonists. The Bronchial Thermoplasty Global Registry (BTGR) collected real-world data on subjects undergoing this procedure. [...]
2021 - 10.1136/bmjopen-2021-053854
BMJ open, Vol. 11 Núm. 12 (january 2021) , p. e053854
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