Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Tracy A Briggs"'
Publikováno v:
Clinical Case Reports, Vol 8, Iss 11, Pp 2181-2185 (2020)
Abstract Hypothyroidism and diabetes insipidus present in children with Aicardi Goutières Syndrome (AGS) often years after disease onset and frequently resolve spontaneously. Screening and regular reassessment for both conditions are recommended in
Externí odkaz:
https://doaj.org/article/2313d5318d694fc3aafffa1c4330fca1
Autor:
Stuart Stewart, Louise Newson, Tracy A Briggs, Dimitris Grammatopoulos, Lawrence Young, Paramjit Gill
Publikováno v:
The Lancet Regional Health. Europe, Vol 11, Iss , Pp 100242- (2021)
Externí odkaz:
https://doaj.org/article/b3a4b06cae8f459dbf075aed35447c7c
Autor:
Sarah E. Withers, Charlie F. Rowlands, Victor S. Tapia, Frances Hedley, Ioana-Emilia Mosneag, Siobhan Crilly, Gillian I. Rice, Andrew P. Badrock, Andrew Hayes, Stuart M. Allan, Tracy A. Briggs, Paul R. Kasher
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Aicardi-Goutières syndrome (AGS1-9) is a genetically determined encephalopathy that falls under the type I interferonopathy disease class, characterized by excessive type I interferon (IFN-I) activity, coupled with upregulation of IFN-stimulated gen
Externí odkaz:
https://doaj.org/article/21996985323c40e7b3c222331fcef159
Autor:
Anna K. Taylor, Tom Kingstone, Tracy A. Briggs, Catherine A. O'Donnell, Helen Atherton, David N. Blane, Carolyn A. Chew‐Graham
Publikováno v:
Health Expectations, Vol 24, Iss 3, Pp 833-842 (2021)
Abstract Background The coronavirus disease (COVID‐19) pandemic has had far‐reaching effects upon lives, healthcare systems and society. Some who had an apparently 'mild' COVID‐19 infection continue to suffer from persistent symptoms, including
Externí odkaz:
https://doaj.org/article/dfbd095aa86a4d83b4d6429ef49b604f
Autor:
Jennifer W. Leiding, Tiphanie P. Vogel, Valentine G.J. Santarlas, Rahul Mhaskar, Madison R. Smith, Alexandre Carisey, Alexander Vargas-Hernández, Manuel Silva-Carmona, Maximilian Heeg, Anne Rensing-Ehl, Bénédicte Neven, Jérôme Hadjadj, Sophie Hambleton, Timothy Ronan Leahy, Kornvalee Meesilpavikai, Charlotte Cunningham-Rundles, Cullen M. Dutmer, Svetlana O. Sharapova, Mervi Taskinen, Ignatius Chua, Rosie Hague, Christian Klemann, Larysa Kostyuchenko, Tomohiro Morio, Akaluck Thatayatikom, Ahmet Ozen, Anna Scherbina, Cindy S. Bauer, Sarah E. Flanagan, Eleonora Gambineri, Lisa Giovannini-Chami, Jennifer Heimall, Kathleen E. Sullivan, Eric Allenspach, Neil Romberg, Sean G. Deane, Benjamin T. Prince, Melissa J. Rose, John Bohnsack, Talal Mousallem, Rohith Jesudas, Maria Marluce Dos Santos Vilela, Michael O’Sullivan, Jana Pachlopnik Schmid, Štěpánka Průhová, Adam Klocperk, Matthew Rees, Helen Su, Sami Bahna, Safa Baris, Lisa M. Bartnikas, Amy Chang Berger, Tracy A. Briggs, Shannon Brothers, Vanessa Bundy, Alice Y. Chan, Shanmuganathan Chandrakasan, Mette Christiansen, Theresa Cole, Matthew C. Cook, Mukesh M. Desai, Ute Fischer, David A. Fulcher, Silvanna Gallo, Amelie Gauthier, Andrew R. Gennery, José Gonçalo Marques, Frédéric Gottrand, Bodo Grimbacher, Eyal Grunebaum, Emma Haapaniemi, Sari Hämäläinen, Kaarina Heiskanen, Tarja Heiskanen-Kosma, Hal M. Hoffman, Luis Ignacio Gonzalez-Granado, Anthony L. Guerrerio, Leena Kainulainen, Ashish Kumar, Monica G. Lawrence, Carina Levin, Timi Martelius, Olaf Neth, Peter Olbrich, Alejandro Palma, Niraj C. Patel, Tamara Pozos, Kahn Preece, Saúl Oswaldo Lugo Reyes, Mark A. Russell, Yael Schejter, Christine Seroogy, Jan Sinclair, Effie Skevofilax, Daniel Suan, Daniel Suez, Paul Szabolcs, Helena Velasco, Klaus Warnatz, Kelly Walkovich, Austen Worth, Mikko R.J. Seppänen, Troy R. Torgerson, Georgios Sogkas, Stephan Ehl, Stuart G. Tangye, Megan A. Cooper, Joshua D. Milner, Lisa R. Forbes Satter, Svetlana Aleshkevich, Luis M. Allende, T. Prescott Atkinson, Faranaz Atschekzei, Sezin Aydemir, Utku Aygunes, Vincent Barlogis, Ulrich Baumann, John Belko, Liliana Bezrodnik, Ariane Biebl, Lori Broderick, Nancy J. Bunin, Maria Soledad Caldirola, Martin Castelle, Fatih Celmeli, Louis-Marie Charbonnier, Talal A. Chatila, Deepak Chellapandian, Haluk Cokugras, Niall Conlon, Fionnuala Cox, Etienne Crickx, Buket Dalgic, Virgil ASH Dalm, Silvia Danielian, Nerea Dominguez-Pinilla, Tal Dujovny, Mikael Ebbo, Ahmet Eken, Brittany Esty, Alexandre Fabre, Alain Fischer, Mark Hannibal, Laura Huppert, Marc D. Ikeda, Stephen Jolles, Kent W. Jolly, Neil Jones, Maria Kanariou, Elif Karakoc-Aydiner, Theoni Karamantziani, Charikleia Kelaidi, Mary Keogan, Ayşenur Pac Kisaarslan, Ayca Kiykim, Kosmas Kotsonis, Natalia Kuzmenko, Sylvie Leroy, Dimitra Lianou, Hilary Longhurst, Myriam Ricarda Lorenz, Patrick Maffucci, Ania Manson, Sarah Marchal, Marion Malphettes, Lia Furlaneto Marega, Andrea A. Mauracher, Holly Miller, Joy Mombourquette, Noel G. Morgan, Anna Mukhina, Aladjidi Nathalie, Brigitte Nelken, David Nolan, Anna-Carin Norlin, Matias Oleastro, Alper Ozcan, Marlene Pasquet, José Roberto Pegler, Capucine Picard, Sophia Polychronopoulou, Pierre Quartier, Juan Francisco Quesada, Jan Ramakers, Katrina L. Randall, V. Koneti Rao, Allison Remiker, Geraldine Resin, Peter Richmond, Frederic Rieux-Laucat, Yulia Rodina, Pierre Rohrlich, Johnathan Sachs, Inga Sakovich, Christopher Santarlas, Sinan Sari, Gregory Sawicki, Uwe Schauer, Selma C. Scheffler Mendoza, Oksana Schvetz, Reinhold Ernst Schmidt, Klaus Schwarz, Anna Sediva, Kyle Sinclair, Mary Slatter, John Sleasman, Katerina Stergiou, Narissara Suratannon, Kay Tanita, Grace Thompson, Stephen Travis, Timothy Trojan, Maria Tsinti, Ekrem Unal, Luciano Urdinez, Felisa Vazquez-Gomez, Mariana Villa, Michael Weinrich, Mitchell J. Weiss, Benjamin Wright, Ebru Yilmaz, Radana Zachova, Yu Zhang
Publikováno v:
Journal of Allergy and Clinical Immunology, 151(4), 1081-1095. Mosby Inc.
Background: In 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity. Objective: This pi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffe7ac03982685dd66aed0013774cc7d
https://pure.eur.nl/en/publications/d18b5abe-edf5-41dc-a269-bb2f2b226ae6
https://pure.eur.nl/en/publications/d18b5abe-edf5-41dc-a269-bb2f2b226ae6
Publikováno v:
Clinical Case Reports, Vol 8, Iss 11, Pp 2181-2185 (2020)
Clinical Case Reports
Clinical Case Reports
Hypothyroidism and diabetes insipidus present in children with Aicardi Goutières Syndrome (AGS) often years after disease onset and frequently resolve spontaneously. Screening and regular reassessment for both conditions are recommended in all child
Autor:
Tracy A Briggs, Paramjit Gill, Dimitris K. Grammatopoulos, Lawrence Young, Stuart Stewart, Louise Newson
Publikováno v:
The Lancet Regional Health. Europe, Vol 11, Iss, Pp 100242-(2021)
The Lancet Regional Health-Europe
The Lancet Regional Health-Europe
Autor:
Leslie P Molina-Ramírez, Sofia Douzgou, Kay Metcalfe, Kate Chandler, Claire Kyle, John H McDermott, Tracy A Briggs, Haroon Saeed, D A Gokhale, Jill Clayton-Smith, Ronnie Wright, Claire Forde, Emma Burkitt-Wright, Audrey Smith, Siddharth Banka, Graeme C.M. Black, Algy Taylor, Iain A. Bruce, Sanjeev S. Bhaskar, Laura Dutton, Christopher Campbell, William G. Newman
Publikováno v:
Molina-Ramírez, L P, Burkitt-Wright, E M, Saeed, H, McDermott, J H, Kyle, C, Wright, R, Campbell, C, Bhaskar, S S, Taylor, A, Dutton, L, Forde, C, Metcalfe, K, Smith, A, Clayton-Smith, J, Douzgou, S, Chandler, K, Briggs, T A, Banka, S, Newman, W G, Gokhale, D, Bruce, I A & Black, G C 2021, ' The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders : A single-institution experience ', Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery, vol. 46, no. 6, pp. 1257-1262 . https://doi.org/10.1111/coa.13826
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0144cec164424f974b59aa2bf8ba5463
https://doi.org/10.1111/coa.13826
https://doi.org/10.1111/coa.13826
Autor:
Laura Furness, Phil Riley, Neville Wright, Siddharth Banka, Stephen Eyre, Adam Jackson, Tracy A. Briggs
Publikováno v:
Pediatric rheumatology online journal. 20(1)
Background Juvenile idiopathic arthritis is the most common chronic rheumatic disease of childhood. The term JIA encompasses a heterogenous group of diseases. The variability in phenotype of patients affected by the disease means it is not uncommon f
Publikováno v:
Al Shiekh, E, Arkwright, P, Herwadkar, A, Hussell, T & Briggs, T 2021, ' TCF3 Dominant Negative Variant Causes an Early Block in B-Lymphopoiesis and Agammaglobulinemia ', Journal of Clinical Immunology, vol. 41, no. 6, pp. 1391-1394 . https://doi.org/10.1007/s10875-021-01049-9
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::454939799309a7bcdf74f6f16837c7ce
https://www.research.manchester.ac.uk/portal/en/publications/tcf3-dominant-negative-variant-causes-an-early-block-in-blymphopoiesis-and-agammaglobulinemia(0443e61d-2877-4bed-84ec-7587a3f7d7bb).html
https://www.research.manchester.ac.uk/portal/en/publications/tcf3-dominant-negative-variant-causes-an-early-block-in-blymphopoiesis-and-agammaglobulinemia(0443e61d-2877-4bed-84ec-7587a3f7d7bb).html