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Infevers: An evolving mutation database for auto-inflammatory syndromes
Author / Creator:Touitou, Isabelle ; Lesage, Suzanne ; McDermott, Michael ; Cuisset, Laurence ; Hoffman, Hal ; Dode, Catherine ; Shoham, Nitza ; Aganna, Ebun ; Hugot, Jean-Pierre ; Wise, Carol ; Waterham, Hans ; Pugnere, Denis ; Demaille, Jacques ; de Menthiere, Cyril Sarrauste
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2004-09, Vol.24 (3), p.194-198
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P01-022 – MEFV gene mutations registered to infevers
Author / Creator:Berdeli, A ; Nalbantoglu, S ; Tigli, D ; Demirel, I ; Atan, M
Publisher:BioMed Central
Journal title:Pediatric rheumatology online journal, 2013-11, Vol.11 (S1), p.A26-A26, Article A26
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New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)
Author / Creator:Van Gijn, Marielle E ; Ceccherini, Isabella ; Shinar, Yael ; Carbo, Ellen C ; Slofstra, Mariska ; Arostegui, Juan I ; Sarrabay, Guillaume ; Rowczenio, Dorota ; Omoyımnı, Ebun ; Balci-Peynircioglu, Banu ; Hoffman, Hal M ; Milhavet, Florian ; Swertz, Morris A ; Touitou, Isabelle
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2018-08, Vol.55 (8), p.530-537
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A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry
Author / Creator:Papa, Riccardo ; Doglio, Matteo ; Lachmann, Helen J. ; Ozen, Seza ; Frenkel, Joost ; Simon, Anna ; Neven, Bénédicte ; Kuemmerle-Deschner, Jasmin ; Ozgodan, Huri ; Caorsi, Roberta ; Federici, Silvia ; Finetti, Martina ; Trachana, Maria ; Brunner, Jurgen ; Bezrodnik, Liliana ; Pinedo Gago, Mari Carmen ; Maggio, Maria Cristina ; Tsitsami, Elena ; Al Suwairi, Wafaa ; Espada, Graciela ; Shcherbina, Anna ; Aksu, Guzide ; Ruperto, Nicolino ; Martini, Alberto ; Ceccherini, Isabella ; Gattorno, Marco
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2017-10, Vol.12 (1), p.167-41, Article 167
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Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach
Author / Creator:Burillo-Sanz, Sergio ; Montes-Cano, Marco-Antonio ; García-Lozano, José-Raúl ; Ortiz-Fernández, Lourdes ; Ortego-Centeno, Norberto ; García-Hernández, Francisco-José ; Espinosa, Gerard ; Graña-Gil, Genaro ; Sánchez-Bursón, Juan ; Rosa Juliá, María ; Solans, Roser ; Blanco, Ricardo ; Barnosi-Marín, Ana-Celia ; Gómez De la Torre, Ricardo ; Fanlo, Patricia ; Rodríguez-Carballeira, Mónica ; Rodríguez-Rodríguez, Luis ; Camps, Teresa ; Castañeda, Santos ; Alegre-Sancho, Juan-Jose ; Martín, Javier ; González-Escribano, María Francisca
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-08, Vol.7 (1), p.8453-9, Article 8453
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Var3PPred: variant prediction based on 3-D structure and sequence analyses of protein-protein interactions on autoinflammatory diseases
Author / Creator:Bülbül, Alper ; Timucin, Emel ; Timuçin, Ahmet Can ; Sezerman, Osman Uğur ; Tahir Turanli, Eda
Publisher:PeerJ. Ltd
Journal title:PeerJ (San Francisco, CA), 2024-05, Vol.12, p.e17297, Article e17297
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Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies
Author / Creator:Paim-Marques, Luciana B ; Cavalcante, Amanda ; Castro, Catherine ; Muskardin Theresa L Wampler ; de Oliveira João Bosco ; Niewold, Timothy B ; Appenzeller Simone
Publisher:Heidelberg: Springer Nature B.V
Journal title:Rheumatology international, 2021-01, Vol.41 (1), p.219-225
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An Ensemble Model Based on Combining BayesDel and Revel Scores Indicates Outstanding Performance: Importance of Outlier Detection and Comparison of Models
Author / Creator:Mustafa Tarık Alay
Publisher:AVES
Journal title:Cerrahpaşa Medical Journal, 2024-08, Vol.48 (2), p.179-184
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FRI0619 Comparing canakimumab and anakinra in young greek women with resistant recurring pericarditis
Author / Creator:Kiryttopoulos, P ; Michailidis, T ; Papchianou, E ; Charalampidis, M ; Dimitriadis, P ; Agorastos, A ; Mpektsis, T
Publisher:Kidlington: Elsevier Limited
Journal title:Annals of the rheumatic diseases, 2017-06, Vol.76 (Suppl 2), p.723
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AB0915 A Low-Penetrance NLRP3 Variant in A NOD2 Carrier Possibly Worsens The Phenotype of Blau Syndrome
Author / Creator:Galozzi, P. ; Sfriso, P. ; Basso, D. ; Scanu, A. ; Oliviero, F. ; Plebani, M. ; Punzi, L.
Publisher:Kidlington: Elsevier Limited
Journal title:Annals of the rheumatic diseases, 2016-06, Vol.75 (Suppl 2), p.1215
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THU0472 Successful Administration of Canakinumab in Adult Patients with Autoinflammatory Syndrome Resistant to Previous Treatment
Author / Creator:Zakalka, M. ; Koutourli, K. ; Michailidou, M. ; Lada, F. ; Dimopoulou, D. ; Kontogiannis, V. ; Kotrotsios, A. ; Settas, L. ; Garyfallos, A.
Publisher:Kidlington: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2013-06, Vol.72 (Suppl 3), p.A324
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Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic disease
Author / Creator:Gava, A ; Furlan, A ; Navaglia, F ; Miorin, M ; Razetti, M ; Basso, D ; Plebani, M ; Punzi, L
Publisher:Italy
Journal title:Reumatismo, 2009-07, Vol.61 (3), p.187
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Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic fevers of autoinflammatory nature suspicion
Author / Creator:Gava, A. ; Furlan, A. ; Navaglia, F. ; Miorin, M. ; Razetti, M. ; Basso, D. ; Plebani, M. ; Punzi, L.
Publisher:PAGEPress Publications
Journal title:Reumatismo, 2011-06, Vol.61 (3), p.187-196
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PAPA, PASH and PAPASH Syndromes: Pathophysiology, Presentation and Treatment
Author / Creator:Cugno, Massimo ; Borghi, Alessandro ; Marzano, Angelo V.
Publisher:Cham: Springer International Publishing
Journal title:American journal of clinical dermatology, 2017-08, Vol.18 (4), p.555-562
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A patient heterozygous for R92Q mutation with periodic fever and aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype
Author / Creator:Batu, Ezgi Deniz ; Sönmez, Hafize Emine ; Bilginer, Yelda ; Özen, Seza
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2018, Vol.60 (6), p.726-728
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THU0509 First 18 Month Report of Iranian Periodic Fever and Autoinflammatory Registry (IPFAIR)
Author / Creator:Mehregan, F. ; Ziaee, V. ; Moradinejad, M.H. ; Aghighi, Y. ; Raeeskarimi, S.R.
Publisher:Kidlington: Elsevier Limited
Journal title:Annals of the rheumatic diseases, 2015-06, Vol.74 (Suppl 2), p.384
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The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry
Author / Creator:Lachmann, H J ; Papa, R ; Gerhold, K ; Obici, L ; Touitou, I ; Cantarini, L ; Frenkel, J ; Anton, J ; Kone-Paut, I ; Cattalini, M ; Bader-Meunier, B ; Insalaco, A ; Hentgen, V ; Merino, R ; Modesto, C ; Toplak, N ; Berendes, R ; Ozen, S ; Cimaz, R ; Jansson, A ; Brogan, P A ; Hawkins, P N ; Ruperto, N ; Martini, A ; Woo, P ; Gattorno, M
Publisher:England: Elsevier Limited
Journal title:Annals of the rheumatic diseases, 2014-12, Vol.73 (12), p.2160-2167
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A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever
Author / Creator:Moghaddas, Fiona ; Llamas, Rafael ; De Nardo, Dominic ; Martinez-Banaclocha, Helios ; Martinez-Garcia, Juan J ; Mesa-del-Castillo, Pablo ; Baker, Paul J ; Gargallo, Vanessa ; Mensa-Vilaro, Anna ; Canna, Scott ; Wicks, Ian P ; Pelegrin, Pablo ; Arostegui, Juan I ; Masters, Seth L
Publisher:United States: BMJ Publishing Group Ltd and European League Against Rheumatism
Journal title:Annals of the rheumatic diseases, 2017-12, Vol.76 (12), p.2085-2094
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An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7
Author / Creator:Caseley, Emily A ; Lara-Reyna, Samuel ; Poulter, James A ; Topping, Joanne ; Carter, Clive ; Nadat Fatima ; Spickett, Gavin P ; Savic Sinisa ; McDermott, Michael F
Publisher:New York: Springer Nature B.V
Journal title:Journal of clinical immunology, 2022-01, Vol.42 (1), p.158-170
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Determining the origin of different variants associated with familial mediterranean fever by machine-learning
Author / Creator:Adato, Orit ; Brenner, Ronen ; Levy, Avi ; Shinar, Yael ; Shemer, Asaf ; Dvir, Shalem ; Ben-Zvi, Ilan ; Livneh, Avi ; Unger, Ron ; Kivity, Shaye
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-09, Vol.12 (1), p.15206-8, Article 15206
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Showing 1 to 20 of 35 results

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Infevers: An evolving mutation database for auto-inflammatory syndromes

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P01-022 – MEFV gene mutations registered to infevers

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New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)

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A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

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Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach

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Var3PPred: variant prediction based on 3-D structure and sequence analyses of protein-protein interactions on autoinflammatory diseases

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Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies

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An Ensemble Model Based on Combining BayesDel and Revel Scores Indicates Outstanding Performance: Importance of Outlier Detection and Comparison of Models

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FRI0619 Comparing canakimumab and anakinra in young greek women with resistant recurring pericarditis

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AB0915 A Low-Penetrance NLRP3 Variant in A NOD2 Carrier Possibly Worsens The Phenotype of Blau Syndrome

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THU0472 Successful Administration of Canakinumab in Adult Patients with Autoinflammatory Syndrome Resistant to Previous Treatment

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Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic disease

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Utility of denaturing high performance liquid chromatography (DHPLC) for the diagnosis of mevalonate kinase deficiency in periodic fevers of autoinflammatory nature suspicion

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PAPA, PASH and PAPASH Syndromes: Pathophysiology, Presentation and Treatment

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A patient heterozygous for R92Q mutation with periodic fever and aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome-like phenotype

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THU0509 First 18 Month Report of Iranian Periodic Fever and Autoinflammatory Registry (IPFAIR)

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The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry

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A novel Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis mutation further defines 14-3-3 binding of pyrin and distinction to Familial Mediterranean Fever

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An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7

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Determining the origin of different variants associated with familial mediterranean fever by machine-learning

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