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A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1
Author / Creator:Tao, Panfeng ; Sun, Jinqiao ; Wu, Zheming ; Wang, Shihao ; Wang, Jun ; Li, Wanjin ; Pan, Heling ; Bai, Renkui ; Zhang, Jiahui ; Wang, Ying ; Lee, Pui Y. ; Ying, Wenjing ; Zhou, Qinhua ; Hou, Jia ; Wang, Wenjie ; Sun, Bijun ; Yang, Mi ; Liu, Danru ; Fang, Ran ; Han, Huan ; Yang, Zhaohui ; Huang, Xin ; Li, Haibo ; Deuitch, Natalie ; Zhang, Yuan ; Dissanayake, Dilan ; Haude, Katrina ; McWalter, Kirsty ; Roadhouse, Chelsea ; MacKenzie, Jennifer J. ; Laxer, Ronald M. ; Aksentijevich, Ivona ; Yu, Xiaomin ; Wang, Xiaochuan ; Yuan, Junying ; Zhou, Qing
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2020-01, Vol.577 (7788), p.109-114
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Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease
Author / Creator:Kahr, Walter H. A. ; Pluthero, Fred G. ; Elkadri, Abdul ; Warner, Neil ; Drobac, Marko ; Chen, Chang Hua ; Lo, Richard W. ; Li, Ling ; Li, Ren ; Li, Qi ; Thoeni, Cornelia ; Pan, Jie ; Leung, Gabriella ; Lara-Corrales, Irene ; Murchie, Ryan ; Cutz, Ernest ; Laxer, Ronald M. ; Upton, Julia ; Roifman, Chaim M. ; Yeung, Rae S. M. ; Brumell, John H ; Muise, Aleixo M
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2017-04, Vol.8 (1), p.14816-14816, Article 14816
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Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)
Author / Creator:Cox, Allison J. ; Darbro, Benjamin W. ; Laxer, Ronald M. ; Velez, Gabriel ; Bing, Xinyu ; Finer, Alexis L. ; Erives, Albert ; Mahajan, Vinit B. ; Bassuk, Alexander G. ; Ferguson, Polly J.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-03, Vol.12 (3), p.e0169687-e0169687
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Childhood Takayasu arteritis: disease course and response to therapy
Author / Creator:Aeschlimann, Florence A. ; Eng, Simon W. M. ; Sheikh, Shehla ; Laxer, Ronald M. ; Hebert, Diane ; Noone, Damien ; Twilt, Marinka ; Pagnoux, Christian ; Benseler, Susanne M. ; Yeung, Rae S. M.
Publisher:England: BioMed Central Ltd
Journal title:Arthritis research & therapy, 2017-11, Vol.19 (1), p.255-255, Article 255
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Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans
Author / Creator:Abe, Koichiro ; Cox, Allison ; Takamatsu, Nobuhiko ; Velez, Gabriel ; Laxer, Ronald M. ; Tse, Shirley M. L. ; Mahajan, Vinit B. ; Bassuk, Alexander G. ; Fuchs, Helmut ; Ferguson, Polly J. ; de Angelis, Martin Hrabe
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2019-06, Vol.116 (24), p.11872-11877
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Lost bones: differential diagnosis of acro-osteolysis seen by the pediatric rheumatologist
Author / Creator:Limenis, Elizaveta ; Stimec, Jennifer ; Kannu, Peter ; Laxer, Ronald M.
Publisher:England: BioMed Central Ltd
Journal title:Pediatric Rheumatology, 2021-07, Vol.19 (1), p.113-113, Article 113
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Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature
Author / Creator:Martinez-Rios, Claudia ; Jariwala, Mehul P. ; Highmore, Kerri ; Duffy, Karen Watanabe ; Spiegel, Lynn ; Laxer, Ronald M. ; Stimec, Jennifer
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Pediatric radiology, 2019-01, Vol.49 (1), p.23-36
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In silico validation of the Autoinflammatory Disease Damage Index
Author / Creator:ter Haar, Nienke M ; van Delft, Amber Laetitia Justine ; Annink, Kim Valerie ; van Stel, Henk ; Al-Mayouf, Sulaiman M ; Amaryan, Gayane ; Anton, Jordi ; Barron, Karyl S ; Benseler, Susanne ; Brogan, Paul A ; Cantarini, Luca ; Cattalini, Marco ; Cochino, Alexis-Virgil ; de Benedetti, Fabrizio ; Dedeoglu, Fatma ; de Jesus, Adriana Almeida ; Demirkaya, Erkan ; Dolezalova, Pavla ; Durrant, Karen L ; Fabio, Giovanna ; Gallizzi, Romina ; Goldbach-Mansky, Raphaela ; Hachulla, Eric ; Hentgen, Veronique ; Herlin, Troels ; Hofer, Michaël ; Hoffman, Hal M ; Insalaco, Antonella ; Jansson, Annette F ; Kallinich, Tilmann ; Kone-Paut, Isabelle ; Kozlova, Anna ; Kuemmerle-Deschner, Jasmin Beate ; Lachmann, Helen J ; Laxer, Ronald M ; Martini, Alberto ; Nielsen, Susan ; Nikishina, Irina ; Ombrello, Amanda K ; Özen, Seza ; Papadopoulou-Alataki, Efimia ; Quartier, Pierre ; Rigante, Donato ; Russo, Ricardo ; Simon, Anna ; Trachana, Maria ; Uziel, Yosef ; Ravelli, Angelo ; Schulert, Grant ; Gattorno, Marco ; Frenkel, Joost
Publisher:England: Elsevier Limited
Journal title:Annals of the rheumatic diseases, 2018-11, Vol.77 (11), p.1599-1605
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ArticlesPeer ReviewedFull Text
Ultrasound-guided steroid tendon sheath injections in juvenile idiopathic arthritis: a 10-year single-center retrospective study
Author / Creator:Peters, Shannon E. ; Laxer, Ronald M. ; Connolly, Bairbre L. ; Parra, Dimitri A.
Publisher:England: BioMed Central
Journal title:Pediatric Rheumatology, 2017-04, Vol.15 (1), p.22-22, Article 22
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ArticlesPeer ReviewedFull Text
Lengthening sleep reduces pain in childhood arthritis: a crossover randomised controlled trial
Author / Creator:Clairman, Hayyah ; Dover, Saunya ; Tomlinson, George ; Beebe, Dean ; Cameron, Bonnie ; Laxer, Ronald M ; Levy, Deborah ; Narang, Indra ; Paetkau, Susan ; Schneider, Rayfel ; Spiegel, Lynn ; Stephens, Samantha ; Stinson, Jennifer ; Tse, Shirley ; Weiss, Shelly ; Whitney, Kristi ; Feldman, Brian M
Publisher:London: EULAR
Journal title:Rheumatic & musculoskeletal diseases open, 2023-10, Vol.9 (4), p.e003352
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ArticlesPeer ReviewedFull Text
Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report
Author / Creator:Schnappauf, Oskar ; Heale, Liane ; Dissanayake, Dilan ; Tsai, Wanxia L. ; Gadina, Massimo ; Leto, Thomas L. ; Kastner, Daniel L. ; Malech, Harry L. ; Kuhns, Douglas B. ; Aksentijevich, Ivona ; Laxer, Ronald M.
Publisher:England: BioMed Central Ltd
Journal title:Pediatric Rheumatology, 2021-04, Vol.19 (1), p.54-54, Article 54
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ArticlesPeer ReviewedFull Text
Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review
Author / Creator:Alsharief, Alaa N. ; Laxer, Ronald M. ; Wang, Qiuyan ; Stimec, Jennifer ; Man, Carina ; Babyn, Paul ; Doria, Andrea S.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Insights into imaging, 2020-07, Vol.11 (1), p.87-87, Article 87
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Clinical and psychosocial stress factors are associated with decline in physical activity over time in children with juvenile idiopathic arthritis
Author / Creator:Heale, Liane D. ; Houghton, Kristin M. ; Rezaei, Elham ; Baxter-Jones, Adam D. G. ; Tupper, Susan M. ; Muhajarine, Nazeem ; Benseler, Susanne M. ; Boire, Gilles ; Cabral, David A. ; Campillo, Sarah ; Chédeville, Gaëlle ; Chetaille, Anne-Laure ; Dancey, Paul ; Duffy, Ciaran ; Duffy, Karen Watanabe ; Ellsworth, Janet ; Guzman, Jaime ; Huber, Adam M. ; Jurencak, Roman ; Lang, Bianca ; Laxer, Ronald M. ; Morishita, Kimberly ; Oen, Kiem G. ; Petty, Ross E. ; Ramsey, Suzanne E. ; Roth, Johannes ; Schneider, Rayfel ; Scuccimarri, Rosie ; Spiegel, Lynn ; Stringer, Elizabeth ; Tse, Shirley M. L. ; Tucker, Lori B. ; Turvey, Stuart E. ; Yeung, Rae S. M. ; Rosenberg, Alan M.
Publisher:England: BioMed Central Ltd
Journal title:Pediatric Rheumatology, 2021-06, Vol.19 (1), p.97-97, Article 97
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Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)
Author / Creator:Cox, Allison J. ; Darbro, Benjamin W. ; Laxer, Ronald M. ; Velez, Gabriel ; Bing, Xinyu ; Finer, Alexis L. ; Erives, Albert ; Mahajan, Vinit B. ; Bassuk, Alexander G. ; Ferguson, Polly J.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2017-07, Vol.12 (7), p.e0181222-e0181222
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Hallmark trials in ANCA-associated vasculitis (AAV) for the pediatric rheumatologist
Author / Creator:Lee, Jennifer J. Y. ; Alsaleem, Alhanouf ; Chiang, Grace P. K. ; Limenis, Elizaveta ; Sontichai, Watchareewan ; Yeung, Rae S. M. ; Akikusa, Jonathan ; Laxer, Ronald M.
Publisher:England: BioMed Central Ltd
Journal title:Pediatric Rheumatology, 2019-06, Vol.17 (1), p.31-31, Article 31
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Developing comparative effectiveness studies for a rare, understudied pediatric disease: lessons learned from the CARRA juvenile localized scleroderma consensus treatment plan pilot study
Author / Creator:Li, Suzanne C. ; Fuhlbrigge, Robert C. ; Laxer, Ronald M. ; Pope, Elena ; Ibarra, Maria F. ; Stewart, Katie ; Mason, Thomas ; Becker, Mara L. ; Hong, Sandy ; Dedeoglu, Fatma ; Torok, Kathryn S. ; Rabinovich, C. Egla ; Ferguson, Polly J. ; Punaro, Marilynn ; Feldman, Brian M. ; Andrews, Tracy ; Higgins, Gloria C.
Publisher:England: BioMed Central Ltd
Journal title:Pediatric Rheumatology, 2019-07, Vol.17 (1), p.43-12, Article 43
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A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease
Author / Creator:Aeschlimann, Florence A ; Batu, Ezgi D ; Canna, Scott W ; Go, Ellen ; Gül, Ahmet ; Hoffmann, Patrycja ; Leavis, Helen L ; Ozen, Seza ; Schwartz, Daniella M ; Stone, Deborah L ; van Royen-Kerkof, Annet ; Kastner, Daniel L ; Aksentijevich, Ivona ; Laxer, Ronald M
Publisher:England: Elsevier Limited
Journal title:Annals of the rheumatic diseases, 2018-05, Vol.77 (5), p.728-735
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ArticlesPeer ReviewedFull Text
Classification criteria for autoinflammatory recurrent fevers
Author / Creator:Gattorno, Marco ; Hofer, Michael ; Federici, Silvia ; Vanoni, Federica ; Bovis, Francesca ; Aksentijevich, Ivona ; Anton, Jordi ; Arostegui, Juan Ignacio ; Barron, Karyl ; Ben-Cherit, Eldad ; Brogan, Paul A ; Cantarini, Luca ; Ceccherini, Isabella ; De Benedetti, Fabrizio ; Dedeoglu, Fatma ; Demirkaya, Erkan ; Frenkel, Joost ; Goldbach-Mansky, Raphaela ; Gul, Ahmet ; Hentgen, Veronique ; Hoffman, Hal ; Kallinich, Tilmann ; Kone-Paut, Isabelle ; Kuemmerle-Deschner, Jasmin ; Lachmann, Helen J ; Laxer, Ronald M ; Livneh, Avi ; Obici, Laura ; Ozen, Seza ; Rowczenio, Dorota ; Russo, Ricardo ; Shinar, Yael ; Simon, Anna ; Toplak, Nataša ; Touitou, Isabelle ; Uziel, Yosef ; van Gijn, Marielle ; Foell, Dirk ; Garassino, Claudia ; Kastner, Dan ; Martini, Alberto ; Sormani, Maria Pia ; Ruperto, Nicolino
Publisher:England: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2019-08, Vol.78 (8), p.1025-1032
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Treating juvenile idiopathic arthritis to target: recommendations of an international task force
Author / Creator:Ravelli, Angelo ; Consolaro, Alessandro ; Horneff, Gerd ; Laxer, Ronald M ; Lovell, Daniel J ; Wulffraat, Nico M ; Akikusa, Jonathan D ; Al-Mayouf, Sulaiman M ; Antón, Jordi ; Avcin, Tadej ; Berard, Roberta A ; Beresford, Michael W ; Burgos-Vargas, Ruben ; Cimaz, Rolando ; De Benedetti, Fabrizio ; Demirkaya, Erkan ; Foell, Dirk ; Itoh, Yasuhiko ; Lahdenne, Pekka ; Morgan, Esi M ; Quartier, Pierre ; Ruperto, Nicolino ; Russo, Ricardo ; Saad-Magalhães, Claudia ; Sawhney, Sujata ; Scott, Christiaan ; Shenoi, Susan ; Swart, Joost F ; Uziel, Yosef ; Vastert, Sebastiaan J ; Smolen, Josef S
Publisher:England: Elsevier Limited
Journal title:Annals of the rheumatic diseases, 2018-06, Vol.77 (6), p.819-828
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A Toddler Presenting with Pulmonary Renal Syndrome
Author / Creator:Aeschlimann, Florence A. ; Yeung, Rae S.M. ; Laxer, Ronald M. ; Hebert, Diane ; Cooper, Ashley ; Chami, Rose ; Noone, Damien
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Case reports in nephrology and dialysis, 2017-06, Vol.7 (2), p.73-80
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A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

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Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

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Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

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Childhood Takayasu arteritis: disease course and response to therapy

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Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans

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Lost bones: differential diagnosis of acro-osteolysis seen by the pediatric rheumatologist

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Imaging findings of sterile pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome: differential diagnosis and review of the literature

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In silico validation of the Autoinflammatory Disease Damage Index

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Ultrasound-guided steroid tendon sheath injections in juvenile idiopathic arthritis: a 10-year single-center retrospective study

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Lengthening sleep reduces pain in childhood arthritis: a crossover randomised controlled trial

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Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report

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Monogenic autoinflammatory diseases in children: single center experience with clinical, genetic, and imaging review

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Clinical and psychosocial stress factors are associated with decline in physical activity over time in children with juvenile idiopathic arthritis

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Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

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Hallmark trials in ANCA-associated vasculitis (AAV) for the pediatric rheumatologist

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Developing comparative effectiveness studies for a rare, understudied pediatric disease: lessons learned from the CARRA juvenile localized scleroderma consensus treatment plan pilot study

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A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease

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Classification criteria for autoinflammatory recurrent fevers

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Treating juvenile idiopathic arthritis to target: recommendations of an international task force

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A Toddler Presenting with Pulmonary Renal Syndrome

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