Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Christopher Watt"'
Autor:
Emilia M. Swietlik, Daniel Greene, Na Zhu, Karyn Megy, Marcella Cogliano, Smitha Rajaram, Divya Pandya, Tobias Tilly, Katie A. Lutz, Carrie C.L. Welch, Michael W. Pauciulo, Laura Southgate, Jennifer M. Martin, Carmen M. Treacy, Christopher J. Penkett, Jonathan C. Stephens, Harm J. Bogaard, Colin Church, Gerry Coghlan, Anna W. Coleman, Robin Condliffe, Christina A. Eichstaedt, Mélanie Eyries, Henning Gall, Stefano Ghio, Barbara Girerd, Ekkehard Grünig, Simon Holden, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Jim Lordan, Rajiv D. Machado, Robert V. MacKenzie Ross, Colm McCabe, Shahin Moledina, David Montani, Horst Olschewski, Joanna Pepke-Zaba, Laura Price, Christopher J. Rhodes, Werner Seeger, Florent Soubrier, Jay Suntharalingam, Mark R. Toshner, Anton Vonk Noordegraaf, John Wharton, James M. Wild, Stephen John Wort, Allan Lawrie, Martin R. Wilkins, Richard C. Trembath, Yufeng Shen, Wendy K. Chung, Andrew J. Swift, William C. Nichols, Nicholas W. Morrell, Stefan Gräf, Stephen Abbs, Lara Abulhoul, Julian Adlard, Munaza Ahmed, Timothy J. Aitman, Hana Alachkar, David J. Allsup, Philip Ancliff, Richard Antrobus, Ruth Armstrong, Gavin Arno, Sofie Ashford, William J. Astle, Anthony Attwood, Paul Aurora, Christian Babbs, Chiara Bacchelli, Tamam Bakchoul, Siddharth Banka, Tadbir Bariana, Julian Barwell, Joana Batista, Helen E. Baxendale, Phil L. Beales, David L. Bennett, Agnieszka Bierzynska, Tina Biss, Maria A.K. Bitner-Glindzicz, Graeme C. Black, Marta Bleda, Iulia Blesneac, Detlef Bockenhauer, Sara Boyce, John R. Bradley, Gerome Breen, Paul Brennan, Carole Brewer, Matthew Brown, Andrew C. Browning, Michael J. Browning, Rachel J. Buchan, Matthew S. Buckland, Teofila Bueser, Carmen Bugarin Diz, John Burn, Siobhan O. Burns, Oliver S. Burren, Nigel Burrows, Carolyn Campbell, Gerald Carr-White, Keren Carss, Ruth Casey, Mark J. Caulfield, Jenny Chambers, John Chambers, Melanie M.Y. Chan, Floria Cheng, Patrick F. Chinnery, Manali Chitre, Martin T. Christian, Jill Clayton-Smith, Maureen Cleary, Naomi Clements Brod, Elizabeth Colby, Trevor R.P. Cole, Janine Collins, Peter W. Collins, Cecilia J. Compton, H. Terence Cook, Stuart Cook, Nichola Cooper, Paul A. Corris, Nicola S. Curry, Matthew J. Daniels, Mehul Dattani, Louise C. Daugherty, John Davis, Anthony De Soyza, Sri V.V. Deevi, Timothy Dent, Charu Deshpande, Eleanor F. Dewhurst, Peter H. Dixon, Sofia Douzgou, Kate Downes, Anna M. Drazyk, Elizabeth Drewe, Daniel Duarte, Tina Dutt, J. David M. Edgar, Karen Edwards, William Egner, Melanie N. Ekani, Perry Elliott, Wendy N. Erber, Marie Erwood, Maria C. Estiu, Dafydd Gareth Evans, Gillian Evans, Tamara Everington, Hiva Fassihi, Remi Favier, Debra Fletcher, Frances A. Flinter, R. Andres Floto, Tom Fowler, James Fox, Amy J. Frary, Courtney E. French, Kathleen Freson, Mattia Frontini, Abigail Furnell, Daniel P. Gale, Vijeya Ganesan, Michael Gattens, Hossein-Ardeschir Ghofrani, J. Simon R. Gibbs, Kate Gibson, Kimberly C. Gilmour, Nicholas S. Gleadall, Sarah Goddard, Keith Gomez, Pavels Gordins, David Gosal, Jodie Graham, Luigi Grassi, Lynn Greenhalgh, Andreas Greinacher, Paolo Gresele, Philip Griffiths, Sofia Grigoriadou, Detelina Grozeva, Mark Gurnell, Scott Hackett, Charaka Hadinnapola, Rosie Hague, William M. Hague, Matthias Haimel, Matthew Hall, Helen L. Hanson, Eshika Haque, Kirsty Harkness, Andrew R. Harper, Claire L. Harris, Daniel Hart, Ahamad Hassan, Grant Hayman, Alex Henderson, Archana Herwadkar, Jonathan Hoffman, Rita Horvath, Henry Houlden, Arjan C. Houweling, Fengyuan Hu, Gavin Hudson, Aarnoud P. Huissoon, Matthew Hurles, Melita Irving, Louise Izatt, Roger James, Sally A. Johnson, Stephen Jolles, Jennifer Jolley, Dragana Josifova, Neringa Jurkute, Mary A. Kasanicki, Hanadi Kazkaz, Rashid Kazmi, Peter Kelleher, Anne M Kelly, Wilf Kelsall, Carly Kempster, Nathalie Kingston, Nils Koelling, Myrto Kostadima, Ania Koziell, Roman Kreuzhuber, Taco W. Kuijpers, Ajith Kumar, Dinakantha Kumararatne, Manju A. Kurian, Michael A. Laffan, Fiona Lalloo, Michele Lambert, Hana Lango Allen, D. Mark Layton, Claire Lentaigne, Tracy Lester, Adam P. Levine, Rachel Linger, Hilary Longhurst, Lorena E. Lorenzo, Eleni Louka, Paul A. Lyons, Bella Madan, Eamonn R. Maher, Jesmeen Maimaris, Samantha Malka, Sarah Mangles, Rutendo Mapeta, Kevin J. Marchbank, Stephen Marks, Hugh S. Markus, Hanns-Ulrich Marschall, Andrew Marshall, Mary Mathias, Emma Matthews, Heather Maxwell, Paul McAlinden, Mark I. McCarthy, Harriet McKinney, Stuart Meacham, Adam J. Mead, Sarju G. Mehta, Michel Michaelides, Carolyn Millar, Shehla N. Mohammed, Anthony T. Moore, Monika Mozere, Keith W. Muir, Andrew D. Mumford, Andrea H. Nemeth, William G. Newman, Michael Newnham, Sadia Noorani, Paquita Nurden, Jennifer O’Sullivan, Samya Obaji, Chris Odhams, Steven Okoli, Andrea Olschewski, Kai Ren Ong, S. Helen Oram, Elizabeth Ormondroyd, Willem H. Ouwehand, Claire Palles, Sofia Papadia, Soo-Mi Park, David Parry, Smita Patel, Joan Paterson, Andrew Peacock, Simon H. Pearce, Kathelijne Peerlinck, Romina Petersen, Clarissa Pilkington, Kenneth E.S. Poole, Bethan Psaila, Angela Pyle, Richard Quinton, Shamima Rahman, Anupama Rao, F. Lucy Raymond, Paula J. Rayner-Matthews, Augusto Rendon, Tara Renton, Andrew S.C. Rice, Alex Richter, Leema Robert, Irene Roberts, Sarah J. Rose, Robert Ross-Russell, Catherine Roughley, Noemi B.A. Roy, Deborah M. Ruddy, Omid Sadeghi-Alavijeh, Moin A. Saleem, Nilesh Samani, Crina Samarghitean, Alba Sanchis-Juan, Ravishankar B. Sargur, Robert N. Sarkany, Simon Satchell, Sinisa Savic, Genevieve Sayer, John A. Sayer, Laura Scelsi, Andrew M. Schaefer, Sol Schulman, Richard Scott, Marie Scully, Claire Searle, Arjune Sen, W.A. Carrock Sewell, Denis Seyres, Neil Shah, Olga Shamardina, Susan E. Shapiro, Adam C. Shaw, Keith Sibson, Lucy Side, Ilenia Simeoni, Michael A. Simpson, Matthew C. Sims, Suthesh Sivapalaratnam, Damian Smedley, Katherine R. Smith, Kenneth G.C. Smith, Katie Snape, Nicole Soranzo, Olivera Spasic-Boskovic, Simon Staines, Emily Staples, Hannah Stark, Kathleen E. Stirrups, Alex Stuckey, Petros Syrris, R. Campbell Tait, Kate Talks, Rhea Y.Y. Tan, Jenny C. Taylor, John M. Taylor, James E. Thaventhiran, Andreas C. Themistocleous, David Thomas, Ellen Thomas, Moira J. Thomas, Patrick Thomas, Kate Thomson, Adrian J. Thrasher, Chantal Thys, Marc Tischkowitz, Catherine Titterton, Cheng-Hock Toh, Ian P. Tomlinson, Matthew Traylor, Paul Treadaway, Salih Tuna, Ernest Turro, Philip Twiss, Tom Vale, Chris Van Geet, Natalie van Zuydam, Anthony M Vandersteen, Marta Vazquez-Lopez, Julie von Ziegenweidt, Annette Wagner, Quinten Waisfisz, Neil Walker, Suellen M. Walker, James S. Ware, Hugh Watkins, Christopher Watt, Andrew R. Webster, Lucy Wedderburn, Wei Wei, Steven B. Welch, Julie Wessels, Sarah K. Westbury, John-Paul Westwood, Deborah Whitehorn, James Whitworth, Andrew O.M. Wilkie, Catherine Williamson, Brian T. Wilson, Edwin K.S. Wong, Nicholas Wood, Yvette Wood, Christopher Geoffrey Woods, Emma R. Woodward, Austen Worth, Michael Wright, Katherine Yates, Patrick F.K. Yong, Timothy Young, Ping Yu, Patrick Yu-Wai-Man, Eliska Zlamalova, Russel Hirsch, R. James White, Marc Simon, David Badesch, Erika Rosenzweig, Charles Burger, Murali Chakinala, Thenappan Thenappan, Greg Elliott, Robert Simms, Harrison Farber, Robert Frantz, Jean Elwing, Nicholas Hill, Dunbar Ivy, James Klinger, Steven Nathan, Ronald Oudiz, Ivan Robbins, Robert Schilz, Terry Fortin, Jeffrey Wilt, Delphine Yung, Eric Austin, Ferhaan Ahmad, Nitin Bhatt, Tim Lahm, Adaani Frost, Zeenat Safdar, Zia Rehman, Robert Walter, Fernando Torres, Sahil Bakshi, Stephen Archer, Rahul Argula, Christopher Barnett, Raymond Benza, Ankit Desai, Veeranna Maddipati
Publikováno v:
Circulation: Genomic and Precision Medicine
Circulation: Genomic and Precision Medicine, American Heart Association, 2020, ⟨10.1161/CIRCGEN.120.003155⟩
Circulation. Genomic and Precision Medicine
Circulation. Genomic and precision medicine, 14(1):e003155. Lippincott Williams and Wilkins Ltd.
morrell 2021, ' Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension ', Circulation. Genomic and precision medicine, vol. 14, no. 1, e003155 . https://doi.org/10.1161/CIRCGEN.120.003155
Circulation: Genomic and Precision Medicine, 2020, ⟨10.1161/CIRCGEN.120.003155⟩
Circulation: Genomic and Precision Medicine, American Heart Association, 2020, ⟨10.1161/CIRCGEN.120.003155⟩
Circulation. Genomic and Precision Medicine
Circulation. Genomic and precision medicine, 14(1):e003155. Lippincott Williams and Wilkins Ltd.
morrell 2021, ' Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension ', Circulation. Genomic and precision medicine, vol. 14, no. 1, e003155 . https://doi.org/10.1161/CIRCGEN.120.003155
Circulation: Genomic and Precision Medicine, 2020, ⟨10.1161/CIRCGEN.120.003155⟩
Supplemental Digital Content is available in the text.
Background: Approximately 25% of patients with pulmonary arterial hypertension (PAH) have been found to harbor rare mutations in disease-causing genes. To identify missing heritability in PA
Background: Approximately 25% of patients with pulmonary arterial hypertension (PAH) have been found to harbor rare mutations in disease-causing genes. To identify missing heritability in PA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::524b66714d301fd180ea8d1d09ee8e86
https://hal.sorbonne-universite.fr/hal-03104099
https://hal.sorbonne-universite.fr/hal-03104099
Autor:
Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer, Natalie Frede, Michele Proietti, Alla Bulashevska, Nadezhda Camacho-Ordonez, Markku Varjosalo, Matias Kinnunen, Esther de Vries, Jos W.M. van der Meer, Rohan Ameratunga, Chaim M. Roifman, Yael D. Schejter, Robin Kobbe, Timo Hautala, Faranaz Atschekzei, Reinhold E. Schmidt, Claudia Schröder, Polina Stepensky, Bella Shadur, Luis A. Pedroza, Michiel van der Flier, Mónica Martínez-Gallo, Luis Ignacio Gonzalez-Granado, Luis M. Allende, Anna Shcherbina, Natalia Kuzmenko, Victoria Zakharova, João Farela Neves, Peter Svec, Ute Fischer, Winnie Ip, Oliver Bartsch, Safa Barış, Christoph Klein, Raif Geha, Janet Chou, Mohammed Alosaimi, Lauren Weintraub, Kaan Boztug, Tatjana Hirschmugl, Maria Marluce Dos Santos Vilela, Dirk Holzinger, Maximilian Seidl, Vassilios Lougaris, Alessandro Plebani, Laia Alsina, Monica Piquer-Gibert, Angela Deyà-Martínez, Charlotte A. Slade, Asghar Aghamohammadi, Hassan Abolhassani, Lennart Hammarström, Outi Kuismin, Merja Helminen, Hana Lango Allen, James E. Thaventhiran, Alexandra F. Freeman, Matthew Cook, Shahrzad Bakhtiar, Mette Christiansen, Charlotte Cunningham-Rundles, Niraj C. Patel, William Rae, Tim Niehues, Nina Brauer, Jaana Syrjänen, Mikko R.J. Seppänen, Siobhan O. Burns, Paul Tuijnenburg, Taco W. Kuijpers, Klaus Warnatz, Bodo Grimbacher, Zoe Adhya, Hana Alachkar, Ariharan Anantharachagan, Richard Antrobus, Gururaj Arumugakani, Sofie Ashford, William J. Astle, Anthony Attwood, Chiara Bacchelli, Joana Batista, Helen E. Baxendale, Claire Bethune, Shahnaz Bibi, Marta Bleda, Barbara Boardman, Claire Booth, John R. Bradley, Gerome Breen, Matthew Brown, Michael J. Browning, Mary Brownlie, Matthew S. Buckland, Oliver S. Burren, Keren Carss, John Chambers, Anita Chandra, Naomi Clements Brod, Hayley Clifford, Nichola Cooper, Louise C. Daugherty, E.G. Davies, Sophie Davies, John Davis, Sarah Deacock, Sri V.V. Deevi, John Dempster, Lisa A. Devlin, Eleanor F. Dewhurst, Kate Downes, Elizabeth Drewe, Daniel Duarte, J. David M. Edgar, Karen Edwards, William Egner, Tariq El-Shanawany, Marie Erwood, Debra Fletcher, James Fox, Amy J. Frary, Mattia Frontini, Abigail Furnell, H. Bobby Gaspar, Rohit Ghurye, Kimberly C. Gilmour, Nicholas S. Gleadall, Sarah Goddard, Pavels Gordins, Stefan Gräf, Luigi Grassi, Daniel Greene, Sofia Grigoriadou, Scott Hackett, Rosie Hague, Matthias Haimel, Lorraine Harper, Grant Hayman, Archana Herwadkar, Fengyuan Hu, Stephen Hughes, Aarnoud P. Huissoon, Roger James, Stephen Jolles, Jennifer Jolley, Julie Jones, Yousuf Karim, Mary A. Kasanicki, Peter Kelleher, Carly Kempster, Sorena Kiani, Nathalie Kingston, Nigel Klein, Myrto Kostadima, Roman Kreuzhuber, Dinakantha Kumararatne, James Laffan, Sara E. Lear, Rachel Linger, Hilary Longhurst, Lorena E. Lorenzo, Paul A. Lyons, Jesmeen Maimaris, Ania Manson, Rutendo Mapeta, Jennifer Martin, Mark I. McCarthy, Elizabeth M. McDermott, Harriet McKinney, Stuart Meacham, Karyn Megy, Hazel Millar, Anoop Mistry, Valerie Morrisson, Sai H.K. Murng, Iman Nasir, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Willem H. Ouwehand, Sofia Papadia, Christopher J. Penkett, Romina Petersen, Mark J. Ponsford, Waseem Qasim, Ellen Quinn, Isabella Quinti, F. Lucy Raymond, Paula J. Rayner-Matthews, Alex Richter, Nilesh Samani, Crina Samarghitean, Alba Sanchis-Juan, Ravishankar B. Sargur, Sinisa Savic, Suranjith L. Seneviratne, W.A. Carrock Sewell, Denis Seyres, Fiona Shackley, Olga Shamardina, Ilenia Simeoni, Michael A. Simpson, Kenneth G.C. Smith, Simon Staines, Emily Staples, Hannah Stark, Hans Stauss, Cathal L. Steele, Jonathan Stephens, Kathleen E. Stirrups, David Thomas, Moira J. Thomas, Patrick Thomas, Adrian J. Thrasher, Tobias Tilly, Catherine Titterton, Paul Treadaway, Salih Tuna, Ernest Turro, Rafal Urniaz, Julie von Ziegenweidt, Neil Walker, Christopher Watt, Steven B. Welch, Deborah Whitehorn, Lisa Willcocks, Nicholas Wood, Yvette Wood, Sarita Workman, Austen Worth, Katherine Yates, Nigel Yeatman, Patrick F.K. Yong, Timothy Young, Ping Yu, Eliska Zlamalova
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of Allergy and Clinical Immunology, 146(4), 901-911. Mosby Inc.
Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, J W M, Ameratunga, R, Roifman, C M, Schejter, Y D, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, R E, Schröder, C, Stepensky, P, Shadur, B, Pedroza, L A, van der Flier, M, Martínez-Gallo, M, Gonzalez-Granado, L I, Allende, L M, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, J F, Svec, P, Fischer, U, Ip, W, Bartsch, O, Barış, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Dos Santos Vilela, M M, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Piquer-Gibert, M, Deyà-Martínez, A, Slade, C A, Aghamohammadi, A, Abolhassani, H, Hammarström, L, Kuismin, O, Helminen, M, Allen, H L, Thaventhiran, J E, Freeman, A F, Cook, M, Bakhtiar, S, Christiansen, M, Cunningham-Rundles, C, Patel, N C, Rae, W, Niehues, T, Brauer, N, Syrjänen, J, Seppänen, M R J, Burns, S O, Tuijnenburg, P, Kuijpers, T W, Warnatz, K, Grimbacher, B & NIHR BioResource 2020, ' Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations ', Journal of Allergy and Clinical Immunology, vol. 146, no. 4, pp. 901-911 . https://doi.org/10.1016/j.jaci.2019.11.051
Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, J W M, Ameratunga, R, Roifman, C M, Schejter, Y D, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, R E, Schröder, C, Stepensky, P, Shadur, B, Pedroza, L A, van der Flier, M, Martínez-Gallo, M, Gonzalez-Granado, L I, Allende, L M, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, J F, Svec, P, Fischer, U, Ip, W, Bartsch, O, Barış, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Dos Santos Vilela, M M, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Christiansen, M & NIHR BioResource 2020, ' Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations ', Journal of Allergy and Clinical Immunology, vol. 146, no. 4, pp. 901-911 . https://doi.org/10.1016/j.jaci.2019.11.051
J Allergy Clin Immunol
Journal of allergy and clinical immunology, 146(4), 901-911. Mosby Inc.
Journal of Allergy and Clinical Immunology, 146, 901-911
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of Allergy and Clinical Immunology, 146, 4, pp. 901-911
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of Allergy and Clinical Immunology, 146(4), 901-911. Mosby Inc.
Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, J W M, Ameratunga, R, Roifman, C M, Schejter, Y D, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, R E, Schröder, C, Stepensky, P, Shadur, B, Pedroza, L A, van der Flier, M, Martínez-Gallo, M, Gonzalez-Granado, L I, Allende, L M, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, J F, Svec, P, Fischer, U, Ip, W, Bartsch, O, Barış, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Dos Santos Vilela, M M, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Piquer-Gibert, M, Deyà-Martínez, A, Slade, C A, Aghamohammadi, A, Abolhassani, H, Hammarström, L, Kuismin, O, Helminen, M, Allen, H L, Thaventhiran, J E, Freeman, A F, Cook, M, Bakhtiar, S, Christiansen, M, Cunningham-Rundles, C, Patel, N C, Rae, W, Niehues, T, Brauer, N, Syrjänen, J, Seppänen, M R J, Burns, S O, Tuijnenburg, P, Kuijpers, T W, Warnatz, K, Grimbacher, B & NIHR BioResource 2020, ' Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations ', Journal of Allergy and Clinical Immunology, vol. 146, no. 4, pp. 901-911 . https://doi.org/10.1016/j.jaci.2019.11.051
Lorenzini, T, Fliegauf, M, Klammer, N, Frede, N, Proietti, M, Bulashevska, A, Camacho-Ordonez, N, Varjosalo, M, Kinnunen, M, de Vries, E, van der Meer, J W M, Ameratunga, R, Roifman, C M, Schejter, Y D, Kobbe, R, Hautala, T, Atschekzei, F, Schmidt, R E, Schröder, C, Stepensky, P, Shadur, B, Pedroza, L A, van der Flier, M, Martínez-Gallo, M, Gonzalez-Granado, L I, Allende, L M, Shcherbina, A, Kuzmenko, N, Zakharova, V, Neves, J F, Svec, P, Fischer, U, Ip, W, Bartsch, O, Barış, S, Klein, C, Geha, R, Chou, J, Alosaimi, M, Weintraub, L, Boztug, K, Hirschmugl, T, Dos Santos Vilela, M M, Holzinger, D, Seidl, M, Lougaris, V, Plebani, A, Alsina, L, Christiansen, M & NIHR BioResource 2020, ' Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations ', Journal of Allergy and Clinical Immunology, vol. 146, no. 4, pp. 901-911 . https://doi.org/10.1016/j.jaci.2019.11.051
J Allergy Clin Immunol
Journal of allergy and clinical immunology, 146(4), 901-911. Mosby Inc.
Journal of Allergy and Clinical Immunology, 146, 901-911
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of Allergy and Clinical Immunology, 146, 4, pp. 901-911
Contains fulltext : 229571.pdf (Publisher’s version ) (Closed access) BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunologic phenotypes. OBJECTIVE: To characterize the clinical and cellula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24edd7c93abde79c231a292f1382db64
Autor:
Yoko Ito, Keren J. Carss, Sofia T. Duarte, Taila Hartley, Boris Keren, Manju A. Kurian, Isabelle Marey, Perinne Charles, Carla Mendonça, Caroline Nava, Rolph Pfundt, Alba Sanchis-Juan, Hans van Bokhoven, Anthony van Essen, Conny van Ravenswaaij-Arts, Kym M. Boycott, Kristin D. Kernohan, Sarah Dyack, F. Lucy Raymond, Timothy Aitman, David Bennett, Mark Caulfield, Patrick Chinnery, Daniel Gale, Ania Koziell, Taco W. Kuijpers, Michael A. Laffan, Eamonn Maher, Hugh S. Markus, Nicholas W. Morrell, Willem H. Ouwehand, David J. Perry, Irene Roberts, Kenneth G.C. Smith, Adrian Thrasher, Hugh Watkins, Catherine Williamson, Geoffrey Woods, Sofie Ashford, John R. Bradley, Debra Fletcher, Tracey Hammerton, Roger James, Nathalie Kingston, Christopher J. Penkett, Kathleen Stirrups, Marijke Veltman, Tim Young, Matthew Brown, Naomi Clements-Brod, John Davis, Eleanor Dewhurst, Helen Dolling, Marie Erwood, Amy Frary, Rachel Linger, Jennifer M. Martin, Sofia Papadia, Karola Rehnstrom, Hannah Stark, David Allsup, Steve Austin, Tamam Bakchoul, Tadbir K. Bariana, Paula Bolton-Maggs, Elizabeth Chalmers, Janine Collins, Peter Collins, Wendy N. Erber, Tamara Everington, Remi Favier, Kathleen Freson, Bruce Furie, Michael Gattens, Johanna Gebhart, Keith Gomez, Daniel Greene, Andreas Greinacher, Paolo Gresele, Daniel Hart, Johan W.M. Heemskerk, Yvonne Henskens, Rashid Kazmi, David Keeling, Anne M. Kelly, Michele P. Lambert, Claire Lentaigne, Ri Liesner, Mike Makris, Sarah Mangles, Mary Mathias, Carolyn M. Millar, Andrew Mumford, Paquita Nurden, Jeanette Payne, John Pasi, Kathelijne Peerlinck, Shoshana Revel-Vilk, Michael Richards, Matthew Rondina, Catherine Roughley, Sol Schulman, Harald Schulze, Marie Scully, Suthesh Sivapalaratnam, Matthew Stubbs, R. Campbell Tait, Kate Talks, Jecko Thachil, Cheng-Hock Toh, Ernest Turro, Chris Van Geet, Minka De Vries, Timothy Q. Warner, Henry Watson, Sarah Westbury, Abigail Furnell, Rutendo Mapeta, Paula Rayner-Matthews, Ilenia Simeoni, Simon Staines, Jonathan Stephens, Christopher Watt, Deborah Whitehorn, Antony Attwood, Louise Daugherty, Sri V.V. Deevi, Csaba Halmagyi, Fengyuan Hu, Vera Matser, Stuart Meacham, Karyn Megy, Olga Shamardina, Catherine Titterton, Salih Tuna, Ping Yu, Julie von Ziegenweldt, William Astle, Marta Bleda, Stefan Gräf, Matthias Haimel, Hana Lango-Allen, Sylvia Richardson, Paul Calleja, Stuart Rankin, Wojciech Turek, Julie Anderson, Christine Bryson, Jenny Carmichael, Coleen McJannet, Sophie Stock, Louise Allen, Gautum Ambegaonkar, Ruth Armstrong, Gavin Arno, Maria Bitner-Glindzicz, Angie Brady, Natalie Canham, Manali Chitre, Emma Clement, Virginia Clowes, Patrick Deegan, Charu Deshpande, Rainer Doffinger, Helen Firth, Frances Flinter, Courtney French, Alice Gardham, Neeti Ghali, Paul Gissen, Detelina Grozeva, Robert Henderson, Anke Hensiek, Simon Holden, Muriel Holder, Susan Holder, Jane Hurst, Dragana Josifova, Deepa Krishnakumar, Melissa Lees, Robert MacLaren, Anna Maw, Sarju Mehta, Michel Michaelides, Anthony Moore, Elaine Murphy, Soo-Mi Park, Alasdair Parker, Chris Patch, Joan Paterson, Julia Rankin, Evan Reid, Elisabeth Rosser, Richard Sandford, Saikat Santra, Richard Scott, Aman Sohal, Penelope Stein, Ellen Thomas, Dorothy Thompson, Marc Tischkowitz, Julie Vogt, Emma Wakeling, Evangeline Wassmer, Andrew Webster, Sonia Ali, Souad Ali, Harm J. Boggard, Colin Church, Gerry Coghlan, Victoria Cookson, Paul A. Corris, Amanda Creaser-Myers, Rosa DaCosta, Natalie Dormand, Mélanie Eyries, Henning Gall, Pavandeep K. Ghataorhe, Stefano Ghio, Ardi Ghofrani, J. Simon R. Gibbs, Barbara Girerd, Alan Greenhalgh, Charaka Hadinnapola, Arjan C. Houweling, Marc Humbert, Anna Huis in’t Veld, Fiona Kennedy, David G. Kiely, Gabor Kovacs, Allan Lawrie, Rob V. Mackenzie Ross, Rajiv Machado, Larahmie Masati, Sharon Meehan, Shahin Moledina, David Montani, Shokri Othman, Andrew J. Peacock, Joanna Pepke-Zaba, Val Pollock, Gary Polwarth, Lavanya Ranganathan, Christopher J. Rhodes, Kevin Rue-Albrecht, Gwen Schotte, Debbie Shipley, Florent Soubrier, Laura Southgate, Laura Scelsi, Jay Suntharalingam, Yvonne Tan, Mark Toshner, Carmen M. Treacy, Richard Trembath, Anton Vonk Noordegraaf, Sara Walker, Ivy Wanjiku, John Wharton, Martin Wilkins, Stephen J. Wort, Katherine Yates, Hana Alachkar, Richard Antrobus, Gururaj Arumugakani, Chiara Bacchelli, Helen Baxendale, Claire Bethune, Shahnaz Bibi, Claire Booth, Michael Browning, Siobhan Burns, Anita Chandra, Nichola Cooper, Sophie Davies, Lisa Devlin, Elizabeth Drewe, David Edgar, William Egner, Rohit Ghurye, Kimberley Gilmour, Sarah Goddard, Pavel Gordins, Sofia Grigoriadou, Scott Hackett, Rosie Hague, Lorraine Harper, Grant Hayman, Archana Herwadkar, Aarnoud Huissoon, Stephen Jolles, Peter Kelleher, Dinakantha Kumararatne, Sara Lear, Hilary Longhurst, Lorena Lorenzo, Jesmeen Maimaris, Ania Manson, Elizabeth McDermott, Sai Murng, Sergey Nejentsev, Sadia Noorani, Eric Oksenhendler, Mark Ponsford, Waseem Qasim, Isabella Quinti, Alex Richter, Crina Samarghitean, Ravishankar Sargur, Sinisa Savic, Suranjith Seneviratne, Carrock Sewell, Emily Staples, Hans Stauss, James Thaventhiran, Moira Thomas, Steve Welch, Lisa Willcocks, Nigel Yeatman, Patrick Yong, Phil Ancliff, Christian Babbs, Mark Layton, Eleni Louka, Simon McGowan, Adam Mead, Noémi Roy, Jenny Chambers, Peter Dixon, Cecelia Estiu, Bill Hague, Hanns-Ulrich Marschall, Michael Simpson, Sam Chong, Ingrid Emmerson, Lionel Ginsberg, David Gosal, Rob Hadden, Rita Horvath, Mohamed Mahdi-Rogers, Adnan Manzur, Andrew Marshall, Emma Matthews, Mark McCarthy, Mary Reilly, Tara Renton, Andrew Rice, Andreas Themistocleous, Tom Vale, Natalie Van Zuydam, Suellen Walker, Liz Ormondroyd, Gavin Hudson, Wei Wei, Patrick Yu Wai Man, James Whitworth, Maryam Afzal, Elizabeth Colby, Moin Saleem, Omid S. Alavijeh, H. Terry Cook, Sally Johnson, Adam P. Levine, Edwin K.S. Wong, Rhea Tan, Alex MacKenzie, Jacek Majewski, Michael Brudno, Dennis Bulman, David Dyment
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Ito, Y, Carss, K J, Duarte, S T, Hartley, T, Keren, B, Kurian, M A, Marey, I, Charles, P, Mendonca, C, Nava, C, Pfundt, R, Sanchis-Juan, A, van Bokhoven, H, van Essen, A, van Ravenswaaij-Arts, C, Koziell, A, Boycott, K M & Kernohan, K D & Dyack, S & Raymond, F L 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. ', American Journal of Human Genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001
NIHR BioResource & Care4Rare Canada Consortium 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures ', American journal of human genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001
American Journal of Human Genetics, 103, 1, pp. 144-153
American journal of human genetics, 103(1), 144-153. Cell Press
American Journal of Human Genetics, 103, 144-153
American Journal of Human Genetics, 103(1), 144-153. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 103(1), 144-153. CELL PRESS
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Ito, Y, Carss, K J, Duarte, S T, Hartley, T, Keren, B, Kurian, M A, Marey, I, Charles, P, Mendonca, C, Nava, C, Pfundt, R, Sanchis-Juan, A, van Bokhoven, H, van Essen, A, van Ravenswaaij-Arts, C, Koziell, A, Boycott, K M & Kernohan, K D & Dyack, S & Raymond, F L 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures. ', American Journal of Human Genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001
NIHR BioResource & Care4Rare Canada Consortium 2018, ' De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures ', American journal of human genetics, vol. 103, no. 1, pp. 144-153 . https://doi.org/10.1016/j.ajhg.2018.06.001
American Journal of Human Genetics, 103, 1, pp. 144-153
American journal of human genetics, 103(1), 144-153. Cell Press
American Journal of Human Genetics, 103, 144-153
American Journal of Human Genetics, 103(1), 144-153. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 103(1), 144-153. CELL PRESS
Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e43f56c5f8f4fc2a8ec6c48ba94bc318
https://lirias.kuleuven.be/handle/123456789/625653
https://lirias.kuleuven.be/handle/123456789/625653
Autor:
Khalid M. El-Moselhy, Adam McNair, Gitau J. Gikonyo, Kim Milferstedt, Jeongmi Seo, Jérôme Hamelin, Christopher Watt, Chul Park, Wenye Camilla Kuo-Dahab, Ahmed S. Abouhend, Caitlyn S. Butler
Publikováno v:
Environmental Science and Technology
Environmental Science and Technology, American Chemical Society, 2018, 52 (6), pp.3503-3511. ⟨10.1021/acs.est.8b00403⟩
Environmental Science and Technology, American Chemical Society, 2018, 52 (6), pp.3503-3511. ⟨10.1021/acs.est.8b00403⟩
This study presents the oxygenic photogranule (OPG) process, a light-driven process for wastewater treatment, developed based on photogranulation of filamentous cyanobacteria, nonphototrophic bacteria, and microalgae. Unlike other biogranular process
Autor:
Emilse Bermejo, Michele P. Lambert, Chris Van Geet, Samya Obaji, Marie-Christine Alessi, Sofia Papadia, Matthias Canault, Shoshana Revel-Vilk, Daniel Greene, Andrew D Mumford, Ernest Turro, Salih Tuna, Sarah K Westbury, Kate Downes, Willem H. Ouwehand, Carolyn M. Millar, Christopher Watt, Kathleen Freson, Katharine Hanlon, Paquita Nurden, Michael Laffan
Publikováno v:
Blood
Blood, American Society of Hematology, 2017, 130 (8), pp.1026-1030. ⟨10.1182/blood-2017-03-776773⟩
Blood, American Society of Hematology, 2017, 130 (8), pp.1026-1030. 〈10.1182/blood-2017-03-776773〉
Westbury, S K, Canault, M, Greene, D, Bermejo, E, Hanlon, K, Lambert, M P, Millar, C M, Nurden, P, Obaji, S G, Revel-Vilk, S, Van Geet, C, Downes, K, Papadia, S, Tuna, S, Watt, C, Consortium, N B-R D, Freson, K, Laffan, M A, Ouwehand, W H, Alessi, M-C, Turro, E & Mumford, A D 2017, ' Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding ', Blood, vol. 130, no. 8 . https://doi.org/10.1182/blood-2017-03-776773
Blood, 2017, 130 (8), pp.1026-1030. ⟨10.1182/blood-2017-03-776773⟩
Blood, American Society of Hematology, 2017, 130 (8), pp.1026-1030. ⟨10.1182/blood-2017-03-776773⟩
Blood, American Society of Hematology, 2017, 130 (8), pp.1026-1030. 〈10.1182/blood-2017-03-776773〉
Westbury, S K, Canault, M, Greene, D, Bermejo, E, Hanlon, K, Lambert, M P, Millar, C M, Nurden, P, Obaji, S G, Revel-Vilk, S, Van Geet, C, Downes, K, Papadia, S, Tuna, S, Watt, C, Consortium, N B-R D, Freson, K, Laffan, M A, Ouwehand, W H, Alessi, M-C, Turro, E & Mumford, A D 2017, ' Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding ', Blood, vol. 130, no. 8 . https://doi.org/10.1182/blood-2017-03-776773
Blood, 2017, 130 (8), pp.1026-1030. ⟨10.1182/blood-2017-03-776773⟩
International audience; Heritable platelet function disorders (PFDs) are genetically heterogeneous and poorly characterised. Pathogenic variants in RASGRP2, which encodes calcium and diacylglycerol-regulated guanine exchange factor I (CalDAG-GEFI), h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1a8f07e9111c356adb245eb5eeef2346
https://hal-amu.archives-ouvertes.fr/hal-01753596
https://hal-amu.archives-ouvertes.fr/hal-01753596
Autor:
Paul, Tuijnenburg, Hana, Lango Allen, Siobhan O, Burns, Daniel, Greene, Machiel H, Jansen, Emily, Staples, Jonathan, Stephens, Keren J, Carss, Daniele, Biasci, Helen, Baxendale, Moira, Thomas, Anita, Chandra, Sorena, Kiani-Alikhan, Hilary J, Longhurst, Suranjith L, Seneviratne, Eric, Oksenhendler, Ilenia, Simeoni, Godelieve J, de Bree, Anton T J, Tool, Ester M M, van Leeuwen, Eduard H T M, Ebberink, Alexander B, Meijer, Salih, Tuna, Deborah, Whitehorn, Matthew, Brown, Ernest, Turro, Adrian J, Thrasher, Kenneth G C, Smith, James E, Thaventhiran, Taco W, Kuijpers, Christopher, Watt
Publikováno v:
The Journal of Allergy and Clinical Immunology
Background The genetic cause of primary immunodeficiency disease (PID) carries prognostic information. Objective We conducted a whole-genome sequencing study assessing a large proportion of the NIHR BioResource–Rare Diseases cohort. Methods In the
Autor:
Sarah K, Westbury, Matthias, Canault, Daniel, Greene, Emilse, Bermejo, Katharine, Hanlon, Michele P, Lambert, Carolyn M, Millar, Paquita, Nurden, Samya G, Obaji, Shoshana, Revel-Vilk, Chris, Van Geet, Kate, Downes, Sofia, Papadia, Salih, Tuna, Christopher, Watt, Kathleen, Freson, Michael A, Laffan, Willem H, Ouwehand, Marie-Christine, Alessi, Ernest, Turro, Andrew D, Mumford
Publikováno v:
Blood. 130(8)
Eleven pedigrees were identified with biallelic pathogenic variants in RASGPR2, which encodes platelet CalDAG-GEFI.CalDAG-GEFI deficiency is a severe, recessive, nonsyndromic platelet function disorder with defective aggregation to multiple agonists.
Publikováno v:
Sociologica, Vol 15, Iss 3, Pp 125-143 (2022)
Attempts to control the current pandemic through public health interventions have been driven by predictions based on modelling, thus bringing epidemiological models to the forefront of policy and public interest. It is almost inevitable that there w
Externí odkaz:
https://doaj.org/article/7f72a4da8dfa436184be38397112c68a
Publikováno v:
Journal of Wood Chemistry and Technology. 16:21-34
Effects of urea addition to oriented strandboard (OSB) binder phenol-formaldehyde (PF) resol resins were investigated at 0, 10, 18, and 26% urea addition levels. PF resins were synthesized at these urea levels with the resin solids levels and viscosi
Autor:
Navkaranbir S, Bajaj, Christopher, Watt, Denis, Hadjiliadis, Colin, Gillespie, Andrew R, Haas, Alberto, Pochettino, James, Mendez, Daniel H, Sterman, Lynn M, Schuchter, Jason D, Christie, James C, Lee, Vivek N, Ahya
Publikováno v:
Transplant international : official journal of the European Society for Organ Transplantation. 23(7)
In the current era of organ shortages and long wait times for life-saving transplants, marginal or extended donors are increasingly being considered; one such category of marginal organs is from donors with a previous history of malignancy. Melanoma